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Anosmia

MedGen UID:
1950
Concept ID:
C0003126
Finding
Synonym: Defective sense of smell
SNOMED CT: No sense of smell (44169009); Sense of smell lost (44169009); Sense of smell absent (44169009); Anosmia (loss of sense of smell) (44169009); Loss of sense of smell (44169009); Absent smell (44169009); Anosmia (44169009); Loss of the sense of smell (44169009)
 
HPO: HP:0000458
Monarch Initiative: MONDO:0010528

Definition

An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. [from HPO]

Conditions with this feature

Phytanic acid storage disease
MedGen UID:
11161
Concept ID:
C0034960
Disease or Syndrome
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Congenital anosmia
MedGen UID:
95992
Concept ID:
C0393778
Congenital Abnormality
This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).
Hereditary motor and sensory neuropathy with optic atrophy
MedGen UID:
140747
Concept ID:
C0393807
Disease or Syndrome
MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Hypogonadotropic hypogonadism 1 with or without anosmia
MedGen UID:
295872
Concept ID:
C1563719
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 2 with or without anosmia
MedGen UID:
289648
Concept ID:
C1563720
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
PCWH syndrome
MedGen UID:
373160
Concept ID:
C1836727
Disease or Syndrome
PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.
Kallmann syndrome with spastic paraplegia
MedGen UID:
333437
Concept ID:
C1839911
Disease or Syndrome
Solitary median maxillary central incisor syndrome
MedGen UID:
326686
Concept ID:
C1840235
Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
Hyperostosis cranialis interna
MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Kufor-Rakeb syndrome
MedGen UID:
338281
Concept ID:
C1847640
Disease or Syndrome
Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).
Absent thumb-short stature-immunodeficiency syndrome
MedGen UID:
338553
Concept ID:
C1848818
Disease or Syndrome
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
Anosmia for butyl mercaptan
MedGen UID:
341400
Concept ID:
C1849192
Finding
Musk, inability to smell
MedGen UID:
342594
Concept ID:
C1850807
Disease or Syndrome
Isovaleric acid, inability to smell
MedGen UID:
383751
Concept ID:
C1855714
Finding
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
MedGen UID:
344563
Concept ID:
C1855739
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Hypogonadotropic hypogonadism 12 with or without anosmia
MedGen UID:
347328
Concept ID:
C1856897
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MedGen UID:
347880
Concept ID:
C1859432
Disease or Syndrome
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Arrhinia with choanal atresia and microphthalmia syndrome
MedGen UID:
355084
Concept ID:
C1863878
Disease or Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006). Also see absence of nasal bones (161480).
Waardenburg syndrome type 2E
MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Peroxisome biogenesis disorder 9B
MedGen UID:
440765
Concept ID:
C2749346
Disease or Syndrome
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
Waardenburg syndrome type 4C
MedGen UID:
413310
Concept ID:
C2750452
Disease or Syndrome
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).
Hypogonadotropic hypogonadism 14 with or without anosmia
MedGen UID:
761703
Concept ID:
C3540450
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 13 with or without anosmia
MedGen UID:
762090
Concept ID:
C3541462
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 3 with or without anosmia
MedGen UID:
763392
Concept ID:
C3550478
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 4 with or without anosmia
MedGen UID:
765257
Concept ID:
C3552343
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 5 with or without anosmia
MedGen UID:
765467
Concept ID:
C3552553
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 6 with or without anosmia
MedGen UID:
765488
Concept ID:
C3552574
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 8 with or without anosmia
MedGen UID:
766755
Concept ID:
C3553841
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 9 with or without anosmia
MedGen UID:
766756
Concept ID:
C3553842
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 10 with or without anosmia
MedGen UID:
766757
Concept ID:
C3553843
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 15 with or without anosmia
MedGen UID:
766891
Concept ID:
C3553977
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 16 with or without anosmia
MedGen UID:
766935
Concept ID:
C3554021
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
X-linked chondrodysplasia punctata 1
MedGen UID:
777171
Concept ID:
C3669395
Disease or Syndrome
X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability.
Bardet-Biedl syndrome 17
MedGen UID:
811538
Concept ID:
C3714980
Disease or Syndrome
Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Hypogonadotropic hypogonadism 18 with or without anosmia
MedGen UID:
815305
Concept ID:
C3808975
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 20 with or without anosmia
MedGen UID:
815313
Concept ID:
C3808983
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 22 with or without anosmia
MedGen UID:
863425
Concept ID:
C4014988
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Kartagener syndrome
MedGen UID:
1646059
Concept ID:
C4551906
Disease or Syndrome
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the LRRC6 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the PIH1D3 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
MedGen UID:
1638030
Concept ID:
C4693522
Finding
Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability (Saeed et al., 2018).
Hypogonadotropic hypogonadism 25 with anosmia
MedGen UID:
1717461
Concept ID:
C5394246
Disease or Syndrome
Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020). For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.
Anosmia, isolated congenital, X-linked
MedGen UID:
1794322
Concept ID:
C5562112
Disease or Syndrome
X-linked form of anosmia, isolated congenital.
Hypogonadotropic hypogonadism 26 with or without anosmia
MedGen UID:
1811919
Concept ID:
C5676903
Disease or Syndrome
HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis (Davis et al., 2020). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.
Hypogonadotropic hypogonadism 27 without anosmia
MedGen UID:
1810165
Concept ID:
C5676921
Disease or Syndrome
Hypogonadotropic hypogonadism-27 without anosmia (HH27) is characterized by lack of pubertal development associated with onset of obesity in early adolescence (Topaloglu et al., 2022). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'

Professional guidelines

PubMed

Patel ZM, Holbrook EH, Turner JH, Adappa ND, Albers MW, Altundag A, Appenzeller S, Costanzo RM, Croy I, Davis GE, Dehgani-Mobaraki P, Doty RL, Duffy VB, Goldstein BJ, Gudis DA, Haehner A, Higgins TS, Hopkins C, Huart C, Hummel T, Jitaroon K, Kern RC, Khanwalkar AR, Kobayashi M, Kondo K, Lane AP, Lechner M, Leopold DA, Levy JM, Marmura MJ, Mclelland L, Miwa T, Moberg PJ, Mueller CA, Nigwekar SU, O'Brien EK, Paunescu TG, Pellegrino R, Philpott C, Pinto JM, Reiter ER, Roalf DR, Rowan NR, Schlosser RJ, Schwob J, Seiden AM, Smith TL, Soler ZM, Sowerby L, Tan BK, Thamboo A, Wrobel B, Yan CH
Int Forum Allergy Rhinol 2022 Apr;12(4):327-680. doi: 10.1002/alr.22929. PMID: 35373533
Jankovic J, Tan EK
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):795-808. Epub 2020 Jun 23 doi: 10.1136/jnnp-2019-322338. PMID: 32576618
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Yan CH, Jang SS, Lin HC, Ma Y, Khanwalkar AR, Thai A, Patel ZM
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J Integr Neurosci 2022 Apr 6;21(3):77. doi: 10.31083/j.jin2103077. PMID: 35633158
Kaye R, Chang CWD, Kazahaya K, Brereton J, Denneny JC 3rd
Otolaryngol Head Neck Surg 2020 Jul;163(1):132-134. Epub 2020 Apr 28 doi: 10.1177/0194599820922992. PMID: 32340555
Rees RN, Noyce AJ, Schrag A
Eur J Neurosci 2019 Feb;49(3):320-327. Epub 2018 Dec 5 doi: 10.1111/ejn.14269. PMID: 30447019Free PMC Article
Boesveldt S, Postma EM, Boak D, Welge-Luessen A, Schöpf V, Mainland JD, Martens J, Ngai J, Duffy VB
Chem Senses 2017 Sep 1;42(7):513-523. doi: 10.1093/chemse/bjx025. PMID: 28531300Free PMC Article

Diagnosis

Dong Y, Li Y, Liu K, Han X, Liu R, Ren Y, Cong L, Zhang Q, Hou T, Song L, Tang S, Shi L, Luo Y, Kalpouzos G, Laukka EJ, Winblad B, Wang Y, Du Y, Qiu C
Alzheimers Dement 2023 Feb;19(2):589-601. Epub 2022 Sep 15 doi: 10.1002/alz.12777. PMID: 36341691
Butowt R, von Bartheld CS
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Roy D, Ghosh R, Dubey S, Dubey MJ, Benito-León J, Kanti Ray B
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Boesveldt S, Postma EM, Boak D, Welge-Luessen A, Schöpf V, Mainland JD, Martens J, Ngai J, Duffy VB
Chem Senses 2017 Sep 1;42(7):513-523. doi: 10.1093/chemse/bjx025. PMID: 28531300Free PMC Article
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704

Therapy

Premraj L, Kannapadi NV, Briggs J, Seal SM, Battaglini D, Fanning J, Suen J, Robba C, Fraser J, Cho SM
J Neurol Sci 2022 Mar 15;434:120162. Epub 2022 Jan 29 doi: 10.1016/j.jns.2022.120162. PMID: 35121209Free PMC Article
Malik P, Patel K, Pinto C, Jaiswal R, Tirupathi R, Pillai S, Patel U
J Med Virol 2022 Jan;94(1):253-262. Epub 2021 Sep 7 doi: 10.1002/jmv.27309. PMID: 34463956Free PMC Article
Jankovic J, Tan EK
J Neurol Neurosurg Psychiatry 2020 Aug;91(8):795-808. Epub 2020 Jun 23 doi: 10.1136/jnnp-2019-322338. PMID: 32576618
Kwah JH, Peters AT
Allergy Asthma Proc 2019 Nov 1;40(6):380-384. doi: 10.2500/aap.2019.40.4252. PMID: 31690375
Sedaghat AR
Am Fam Physician 2017 Oct 15;96(8):500-506. PMID: 29094889

Prognosis

Ladani AP, Loganathan M, Kolikonda MK, Lippmann S
South Med J 2021 Dec;114(12):751-759. doi: 10.14423/SMJ.0000000000001337. PMID: 34853850Free PMC Article
Kaye R, Chang CWD, Kazahaya K, Brereton J, Denneny JC 3rd
Otolaryngol Head Neck Surg 2020 Jul;163(1):132-134. Epub 2020 Apr 28 doi: 10.1177/0194599820922992. PMID: 32340555
Boesveldt S, Postma EM, Boak D, Welge-Luessen A, Schöpf V, Mainland JD, Martens J, Ngai J, Duffy VB
Chem Senses 2017 Sep 1;42(7):513-523. doi: 10.1093/chemse/bjx025. PMID: 28531300Free PMC Article
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
Gaines AD
Allergy Asthma Proc 2010 May-Jun;31(3):185-9. doi: 10.2500/aap.2010.31.3357. PMID: 20615320

Clinical prediction guides

Yan CH, Jang SS, Lin HC, Ma Y, Khanwalkar AR, Thai A, Patel ZM
Int Forum Allergy Rhinol 2023 Jun;13(6):989-997. Epub 2022 Dec 21 doi: 10.1002/alr.23116. PMID: 36507615Free PMC Article
Thorstensen WM, Oie MR, Dahlslett SB, Sue-Chu M, Steinsvag SK, Helvik AS
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Mullol J, Bachert C, Amin N, Desrosiers M, Hellings PW, Han JK, Jankowski R, Vodicka J, Gevaert P, Daizadeh N, Khan AH, Kamat S, Patel N, Graham NMH, Ruddy M, Staudinger H, Mannent LP
J Allergy Clin Immunol Pract 2022 Apr;10(4):1086-1095.e5. Epub 2021 Oct 7 doi: 10.1016/j.jaip.2021.09.037. PMID: 34628065
Rouadi PW, Idriss SA, Bousquet J
Curr Opin Allergy Clin Immunol 2021 Jun 1;21(3):229-244. doi: 10.1097/ACI.0000000000000735. PMID: 33560742
Hsieh JW, Daskalou D, Detroux V, Sipione R, Senn P, Hugentobler M, Landis BN
Laryngoscope 2020 Oct;130(10):2442-2447. Epub 2020 Aug 1 doi: 10.1002/lary.28918. PMID: 32738075

Recent systematic reviews

Vance DE, Del Bene VA, Kamath V, Frank JS, Billings R, Cho DY, Byun JY, Jacob A, Anderson JN, Visscher K, Triebel K, Martin KM, Li W, Puga F, Fazeli PL
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Lopez-Leon S, Wegman-Ostrosky T, Ayuzo Del Valle NC, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2022 Jun 23;12(1):9950. doi: 10.1038/s41598-022-13495-5. PMID: 35739136Free PMC Article
Malik P, Patel K, Pinto C, Jaiswal R, Tirupathi R, Pillai S, Patel U
J Med Virol 2022 Jan;94(1):253-262. Epub 2021 Sep 7 doi: 10.1002/jmv.27309. PMID: 34463956Free PMC Article
Gómez-Ochoa SA, Franco OH, Rojas LZ, Raguindin PF, Roa-Díaz ZM, Wyssmann BM, Guevara SLR, Echeverría LE, Glisic M, Muka T
Am J Epidemiol 2021 Jan 4;190(1):161-175. doi: 10.1093/aje/kwaa191. PMID: 32870978Free PMC Article
Hwang K, Yeom SH, Hwang SH
J Craniofac Surg 2017 May;28(3):803-805. doi: 10.1097/SCS.0000000000003482. PMID: 28468171

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