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Marie Unna syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Marie Unna hereditary hypotrichosis
SNOMED CT: Marie Unna syndrome (254234005); Marie Unna hereditary hypotrichosis (254234005); Marie Unna congenital hypotrichosis (254234005)
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.
Related genes: HRURF, EPS8L3
Monarch Initiative: MONDO:0018631
Orphanet: ORPHA444


A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Marie Unna syndrome in Orphanet.

Recent clinical studies


Huang Y, Cai C, Ren L, Cui C, Zhang X, Liu W
J Dermatol 2019 May;46(5):413-417. Epub 2019 Feb 27 doi: 10.1111/1346-8138.14811. PMID: 30809827
Celik HH, Surucu SH, Aldur MM, Ozdemir BM, Karaduman AA, Cumhur MM
Saudi Med J 2004 Nov;25(11):1648-51. PMID: 15573195
Wakkers-Garritsen BG
Dermatologica 1974;148(1):51-2. PMID: 4831965

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