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Hypotrichosis-deafness syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Hypotrichosis and deafness syndrome; hypotrichosis-deafness syndrome; Hypotrichosis-hearing loss syndrome
SNOMED CT: Hypotrichosis and deafness syndrome (783555001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0018021
Orphanet: ORPHA330029


A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis-deafness syndrome

Recent clinical studies

Clinical prediction guides

de Zwart-Storm EA, Rosa RF, Martin PE, Foelster-Holst R, Frank J, Bau AE, Zen PR, Graziadio C, Paskulin GA, Kamps MA, van Geel M, van Steensel MA
Exp Dermatol 2011 May;20(5):408-12. Epub 2011 Mar 17 doi: 10.1111/j.1600-0625.2010.01222.x. PMID: 21410767

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