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4p partial monosomy syndrome(WHS)

MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Synonyms: Chromosome 4p syndrome; CHROMOSOME 4p16.3 DELETION SYNDROME; Mental retardation, unusual facies, and intrauterine growth retardation; Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; Pitt syndrome; Prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech; WHS; Wittwer syndrome; Wolf syndrome; Wolf-Hirschhorn Syndrome
SNOMED CT: Deletion of short arm of chromosome 4 (17122004); 4p partial monosomy syndrome (17122004); Chromosome 4 short arm deletion syndrome (17122004); 4p minus syndrome (17122004); Midline fusion defect syndrome (17122004); Wolf Hirschhorn syndrome (718226002)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): CPLX1 (4p16.3); CTBP1 (4p16.3); FGFRL1 (4p16.3); LETM1 (4p16.3); NSD2 (4p16.3)
 
Monarch Initiative: MONDO:0008684
OMIM®: 194190
Orphanet: ORPHA280

Definition

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, and seizures.

Almost everyone with this disorder has distinctive facial features, including a broad nasal bridge, large and protruding eyes, and a high forehead.  This combination is described as a "Greek warrior helmet" appearance. Other characteristic facial features include a shortened distance between the nose and upper lip (a short philtrum), a downturned mouth, a small chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of skin (tags). Additionally, affected individuals may have asymmetrical facial features and an unusually small head (microcephaly).

People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature.

Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, but verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age.

Additional features of Wolf-Hirschhorn syndrome include skin changes, such as mottled or dry skin; skeletal abnormalities, such as abnormal curvature of the spine (scoliosis and kyphosis); dental problems including, missing teeth; and an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, and genitourinary tract.

A condition called Pitt-Rogers-Danks syndrome has features that overlap with those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions are actually part of a single syndrome with variable signs and symptoms.  https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Abnormality of the genitourinary system
MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
The presence of any abnormality of the genitourinary system.
Aplasia of the uterus
MedGen UID:
98421
Concept ID:
C0425913
Finding
Aplasia of the uterus.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Pseudoepiphyses of the metacarpals
MedGen UID:
349766
Concept ID:
C1860253
Finding
A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and blood vessels.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Severe postnatal growth retardation
MedGen UID:
347510
Concept ID:
C1857641
Finding
Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Biliary tract abnormality
MedGen UID:
108201
Concept ID:
C0549613
Finding
An abnormality of the biliary tree.
Malrotation of small bowel
MedGen UID:
395442
Concept ID:
C1860244
Congenital Abnormality
A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
An abnormal narrowing of the external auditory canal.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Tethered cord
MedGen UID:
36387
Concept ID:
C0080218
Disease or Syndrome
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Absent septum pellucidum
MedGen UID:
96561
Concept ID:
C0431371
Congenital Abnormality
Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Periventricular cysts
MedGen UID:
326980
Concept ID:
C1839858
Finding
Cavum septum pellucidum
MedGen UID:
327087
Concept ID:
C1840380
Finding
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Morphological central nervous system abnormality
MedGen UID:
892343
Concept ID:
C4021765
Anatomical Abnormality
A structural abnormality of the central nervous system.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Radioulnar synostosis
MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Abnormal form of the vertebral bodies
MedGen UID:
374194
Concept ID:
C1839326
Finding
Abnormal morphology of vertebral body.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormal sternal ossification
MedGen UID:
348058
Concept ID:
C1860243
Finding
Any anomaly in the formation of the bony substance of the sternum.
Rib segmentation abnormalities
MedGen UID:
369388
Concept ID:
C1968999
Finding
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Craniofacial asymmetry
MedGen UID:
870860
Concept ID:
C4025320
Anatomical Abnormality
Asymmetry of the bones of the skull and the face.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Accessory spleen
MedGen UID:
75619
Concept ID:
C0266631
Congenital Abnormality
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Short upper lip
MedGen UID:
338587
Concept ID:
C1848977
Finding
Decreased width of the upper lip.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.
Prominent glabella
MedGen UID:
349761
Concept ID:
C1860247
Finding
Forward protrusion of the glabella.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Orofacial cleft
MedGen UID:
472000
Concept ID:
C3266076
Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Preauricular pit
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Hyperconvex fingernails
MedGen UID:
337095
Concept ID:
C1844825
Finding
When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
Aplasia cutis congenita of scalp
MedGen UID:
343411
Concept ID:
C1855698
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Rieger anomaly
MedGen UID:
78558
Concept ID:
C0265341
Disease or Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.\n\nAbout half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.\n\nResearchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.\n\nThe signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.
Congenital ectopic pupil
MedGen UID:
224790
Concept ID:
C1271219
Congenital Abnormality
Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV4p partial monosomy syndrome
Follow this link to review classifications for 4p partial monosomy syndrome in Orphanet.

Professional guidelines

PubMed

Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L
Arch Gynecol Obstet 2018 Aug;298(2):289-295. Epub 2018 May 28 doi: 10.1007/s00404-018-4798-1. PMID: 29808250
Zhen L, Fan SS, Huang LY, Pan M, Han J, Yang X, Li DZ
Eur J Obstet Gynecol Reprod Biol 2018 Jun;225:19-21. Epub 2018 Mar 31 doi: 10.1016/j.ejogrb.2018.03.047. PMID: 29626710
Battaglia A, Carey JC
Am J Med Genet 1999 Jun 25;89(2):111-5. doi: 10.1002/(sici)1096-8628(19990625)89:2<111::aid-ajmg9>3.0.co;2-g. PMID: 10559766

Curated

Battaglia A, South S, Carey JC
Eur J Hum Genet 2011 Apr;19(4) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.186. PMID: 21150881Free PMC Article

Recent clinical studies

Etiology

Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Garne E, Tan J, Loane M, Baldacci S, Ballardini E, Brigden J, Cavero-Carbonell C, García-Villodre L, Gissler M, Given J, Heino A, Jordan S, Limb E, Neville AJ, Rissmann A, Santoro M, Scanlon L, Urhoj SK, Wellesley DG, Morris J
BMJ Paediatr Open 2022 Jun;6(1) doi: 10.1136/bmjpo-2022-001526. PMID: 36053618Free PMC Article
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Bergemann AD, Cole F, Hirschhorn K
Trends Genet 2005 Mar;21(3):188-95. doi: 10.1016/j.tig.2005.01.008. PMID: 15734578
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Diagnosis

Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Zhen L, Fan SS, Huang LY, Pan M, Han J, Yang X, Li DZ
Eur J Obstet Gynecol Reprod Biol 2018 Jun;225:19-21. Epub 2018 Mar 31 doi: 10.1016/j.ejogrb.2018.03.047. PMID: 29626710
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Battaglia A, Carey JC, South ST
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):216-23. Epub 2015 Aug 4 doi: 10.1002/ajmg.c.31449. PMID: 26239400
Battaglia A, Carey JC
Brain Dev 2005 Aug;27(5):362-4. Epub 2005 Apr 22 doi: 10.1016/j.braindev.2004.02.017. PMID: 16023553

Therapy

Horiguchi A, Koichihara R, Kikuchi K, Nonoyama H, Daida A, Oba D, Hirata Y, Matsuura R, Ohashi H, Hamano SI
Neuropediatrics 2023 Oct;54(5):339-343. Epub 2023 Apr 19 doi: 10.1055/a-2077-1988. PMID: 37075791
Tamai M, Kasai S, Akahane K, Thu TN, Kagami K, Komatsu C, Abe M, Watanabe A, Goi K, Miyake K, Inaba T, Takita J, Goto H, Minegishi M, Iwamoto S, Sugita K, Inukai T
J Steroid Biochem Mol Biol 2022 Apr;218:106068. Epub 2022 Feb 4 doi: 10.1016/j.jsbmb.2022.106068. PMID: 35124168
Want MY, Tsuji T, Singh PK, Thorne JL, Matsuzaki J, Karasik E, Gillard B, Cortes Gomez E, Koya RC, Lugade A, Odunsi K, Battaglia S
J Immunother Cancer 2021 Feb;9(2) doi: 10.1136/jitc-2020-001374. PMID: 33589522Free PMC Article
Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G
Am J Med Genet A 2018 Feb;176(2):409-414. Epub 2017 Nov 28 doi: 10.1002/ajmg.a.38554. PMID: 29193639
Vougiouklakis T, Hamamoto R, Nakamura Y, Saloura V
Epigenomics 2015 Aug;7(5):863-74. Epub 2015 May 5 doi: 10.2217/epi.15.32. PMID: 25942451

Prognosis

Yan J, Zhang MY, Lin J, Li KX, Zhao ZM, Gao YM, Deng XL, Wang CS, Wang HS
J Cell Mol Med 2023 May;27(10):1436-1441. Epub 2023 Apr 18 doi: 10.1111/jcmm.17743. PMID: 37073435Free PMC Article
Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Paradowska-Stolarz AM
Adv Clin Exp Med 2014 May-Jun;23(3):485-9. doi: 10.17219/acem/24111. PMID: 24979523
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Clinical prediction guides

Yan J, Zhang MY, Lin J, Li KX, Zhao ZM, Gao YM, Deng XL, Wang CS, Wang HS
J Cell Mol Med 2023 May;27(10):1436-1441. Epub 2023 Apr 18 doi: 10.1111/jcmm.17743. PMID: 37073435Free PMC Article
Tang F, Zeng Y, Wang L, Yin D, Chen L, Xie D, Wang J
Mol Genet Genomic Med 2023 Jun;11(6):e2155. Epub 2023 Feb 27 doi: 10.1002/mgg3.2155. PMID: 36849216Free PMC Article
Tran Q, Lee H, Jung JH, Chang SH, Shrestha R, Kong G, Park J, Kim SH, Park KS, Rhee HW, Yun J, Cho MH, Kim KP, Park J
Cell Death Dis 2022 Jun 10;13(6):543. doi: 10.1038/s41419-022-04993-5. PMID: 35680871Free PMC Article
Paradowska-Stolarz AM
Adv Clin Exp Med 2014 May-Jun;23(3):485-9. doi: 10.17219/acem/24111. PMID: 24979523
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768

Recent systematic reviews

Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S, Kluger G, Striano P
Seizure 2024 Mar;116:14-23. Epub 2022 Dec 8 doi: 10.1016/j.seizure.2022.12.001. PMID: 36526544
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

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