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Thick hair

MedGen UID:
892635
Concept ID:
C4073184
Finding
Synonyms: Increased follicular density; Increased hair density
 
HPO: HP:0100874

Definition

Increased density of hairs, i.e., and elevated number of hairs per unit area. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThick hair

Conditions with this feature

Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
Neonatal ichthyosis-sclerosing cholangitis syndrome
MedGen UID:
334382
Concept ID:
C1843355
Disease or Syndrome
A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.
Cornelia de Lange syndrome 3
MedGen UID:
339902
Concept ID:
C1853099
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Wiedemann-Steiner syndrome
MedGen UID:
340266
Concept ID:
C1854630
Disease or Syndrome
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.
Dysmorphism-conductive hearing loss-heart defect syndrome
MedGen UID:
767688
Concept ID:
C3554774
Disease or Syndrome
A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, ?at nares, Cupid''s bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
MedGen UID:
894554
Concept ID:
C4085597
Disease or Syndrome
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.\n\nChildren with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.\n\nMost affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.\n\nPeople with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).\n\nOther features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).
COG4-congenital disorder of glycosylation
MedGen UID:
929221
Concept ID:
C4303552
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MedGen UID:
1620960
Concept ID:
C4540096
Disease or Syndrome
Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).
Intellectual disability, autosomal recessive 61
MedGen UID:
1622296
Concept ID:
C4540424
Mental or Behavioral Dysfunction
MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).
Zimmermann-Laband syndrome 1
MedGen UID:
1639277
Concept ID:
C4551773
Disease or Syndrome
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). Genetic Heterogeneity of Zimmermann-Laband Syndrome ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.
Mitochondrial complex 1 deficiency, nuclear type 17
MedGen UID:
1648418
Concept ID:
C4748786
Disease or Syndrome
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
MedGen UID:
1679105
Concept ID:
C5193066
Disease or Syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.
Zimmermann-laband syndrome 3
MedGen UID:
1684740
Concept ID:
C5231447
Disease or Syndrome
Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).

Professional guidelines

PubMed

Shokeir H, Samy N, Taymour M
J Cosmet Dermatol 2021 Nov;20(11):3517-3525. Epub 2021 Mar 9 doi: 10.1111/jocd.14027. PMID: 33629488
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522

Recent clinical studies

Etiology

Li X, Xu W
J Voice 2021 Jan;35(1):113-115. Epub 2019 Jul 23 doi: 10.1016/j.jvoice.2019.06.018. PMID: 31350115
Okochi M, Fukushima T, Okochi H, Takita K, Onda M
J Plast Surg Hand Surg 2020 Jun;54(3):172-176. Epub 2020 Feb 25 doi: 10.1080/2000656X.2020.1729778. PMID: 32093524
Heo JH, Yeom SD, Byun JW, Shin J, Choi GS
J Dermatol 2020 Apr;47(4):334-341. Epub 2020 Jan 9 doi: 10.1111/1346-8138.15220. PMID: 31919884
Uyar B, Saklamaz A
J Dermatol 2012 May;39(5):430-2. Epub 2012 Jan 10 doi: 10.1111/j.1346-8138.2011.01480.x. PMID: 22229689
Desai S, Mahmoud BH, Bhatia AC, Hamzavi IH
Dermatol Surg 2010 Mar;36(3):291-8. Epub 2010 Jan 19 doi: 10.1111/j.1524-4725.2009.01433.x. PMID: 20100274

Diagnosis

Montenegro YHA, Baldo G, Giugliani R, Poswar FO, Sobrinho RPO, Steiner CE
Psychiatr Genet 2021 Oct 1;31(5):199-204. doi: 10.1097/YPG.0000000000000294. PMID: 34347683
Heo JH, Yeom SD, Byun JW, Shin J, Choi GS
J Dermatol 2020 Apr;47(4):334-341. Epub 2020 Jan 9 doi: 10.1111/1346-8138.15220. PMID: 31919884
Van Neste DJ
Skin Res Technol 2015 Aug;21(3):373-9. Epub 2015 Jan 13 doi: 10.1111/srt.12207. PMID: 25639154
Van Neste D
Eur J Dermatol 2014 Sep-Oct;24(5):568-76. doi: 10.1684/ejd.2014.2428. PMID: 25445091
Hofmeyr GJ, Nikodem VC, Gülmezoĝlu AM, Bunn AE
Br J Obstet Gynaecol 1993 Jul;100(7):649-52. doi: 10.1111/j.1471-0528.1993.tb14232.x. PMID: 8369248

Therapy

Watanabe Y, Nagashima T, Hanzawa N, Ishino A, Nakazawa Y, Ogo M, Iwabuchi T, Tajima M
Int J Cosmet Sci 2015 Dec;37(6):579-87. Epub 2015 May 18 doi: 10.1111/ics.12235. PMID: 25925959
Uyar B, Saklamaz A
J Dermatol 2012 May;39(5):430-2. Epub 2012 Jan 10 doi: 10.1111/j.1346-8138.2011.01480.x. PMID: 22229689
Desai S, Mahmoud BH, Bhatia AC, Hamzavi IH
Dermatol Surg 2010 Mar;36(3):291-8. Epub 2010 Jan 19 doi: 10.1111/j.1524-4725.2009.01433.x. PMID: 20100274
Oura H, Iino M, Nakazawa Y, Tajima M, Ideta R, Nakaya Y, Arase S, Kishimoto J
J Dermatol 2008 Dec;35(12):763-7. doi: 10.1111/j.1346-8138.2008.00564.x. PMID: 19239555
Kirschner MA
Spec Top Endocrinol Metab 1984;6:55-93. PMID: 6084314

Prognosis

Shokeir H, Samy N, Taymour M
J Cosmet Dermatol 2021 Nov;20(11):3517-3525. Epub 2021 Mar 9 doi: 10.1111/jocd.14027. PMID: 33629488
Li X, Xu W
J Voice 2021 Jan;35(1):113-115. Epub 2019 Jul 23 doi: 10.1016/j.jvoice.2019.06.018. PMID: 31350115
Iwabuchi T, Takeda S, Yamanishi H, Ideta R, Ehama R, Tsuruda A, Shibata H, Ito T, Komatsu N, Terai K, Oka S
J Cosmet Dermatol 2016 Jun;15(2):176-84. Epub 2016 Mar 31 doi: 10.1111/jocd.12216. PMID: 27030543
Van Neste D
Eur J Dermatol 2014 Sep-Oct;24(5):568-76. doi: 10.1684/ejd.2014.2428. PMID: 25445091
Van Neste D
Skin Pharmacol Physiol 2006;19(3):168-76. Epub 2006 May 4 doi: 10.1159/000093051. PMID: 16679818

Clinical prediction guides

Baltenneck F, Genty G, Samra EB, Richena M, Harland DP, Clerens S, Leccia E, Le Balch M, Doucet J, Michelet JF, Commo S
J Struct Biol 2022 Dec;214(4):107908. Epub 2022 Oct 17 doi: 10.1016/j.jsb.2022.107908. PMID: 36265530
Watanabe Y, Nagashima T, Hanzawa N, Ishino A, Nakazawa Y, Ogo M, Iwabuchi T, Tajima M
Int J Cosmet Sci 2015 Dec;37(6):579-87. Epub 2015 May 18 doi: 10.1111/ics.12235. PMID: 25925959
Van Neste DJ
Skin Res Technol 2015 Aug;21(3):373-9. Epub 2015 Jan 13 doi: 10.1111/srt.12207. PMID: 25639154
Buggio L, Vercellini P, Somigliana E, Viganò P, Frattaruolo MP, Fedele L
Gynecol Endocrinol 2012 Oct;28(10):753-7. Epub 2012 Mar 6 doi: 10.3109/09513590.2012.662545. PMID: 22394274
Hofmeyr GJ, Nikodem VC, Gülmezoĝlu AM, Bunn AE
Br J Obstet Gynaecol 1993 Jul;100(7):649-52. doi: 10.1111/j.1471-0528.1993.tb14232.x. PMID: 8369248

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