Hypertrichosis Universalis Congenita, Ambras Type; Htc1

Description

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 HypertrichosisHTC1 has been mapped to chromosome 8q. HTC2 (OMIM ) is caused by palindrome-mediated interchromosomal insertion at chromosome Xq27. HTC3 (OMIM ), 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 (OMIM ) on chromosome 17q24.Also see lanugo-like generalized congenital hypertrichosis (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypertrichosis Universalis Congenita, Ambras Type; Htc1

  • Abnormal facial shape
  • Hypertrichosis
  • Congenital, generalized hypertrichosis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Alternate names

Hypertrichosis Universalis Congenita, Ambras Type; Htc1 Is also known as ambras syndrome, hypertrichosis, congenital generalized;ambras syndrome.


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