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Ambras type hypertrichosis universalis congenita(HTC1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Ambras syndrome; HTC 1; Hypertrichosis Universalis Congenita
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0007787
OMIM®: 145701
Orphanet: ORPHA1023


Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by Fantauzzo et al., 2012). Genetic Heterogeneity of Congenital Generalized Hypertrichosis HTC1 has been mapped to chromosome 8q. HTC2 (307150) is caused by palindrome-mediated interchromosomal insertion at chromosome Xq27. HTC3 (135400), which can occur with or without associated gingival hyperplasia, is caused by deletion or duplication at chromosome 17q24 or by mutation in the ABCA5 gene (612503) on chromosome 17q24. Also see lanugo-like generalized congenital hypertrichosis (145700). [from OMIM]

Clinical features

From HPO
Congenital, generalized hypertrichosis
MedGen UID:
Concept ID:
Disease or Syndrome
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmbras type hypertrichosis universalis congenita
Follow this link to review classifications for Ambras type hypertrichosis universalis congenita in Orphanet.

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