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.

Accelerate your rare disease diagnosis with us

Learn more

Alternate names

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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7