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X-linked congenital generalized hypertrichosis(HTC2)

MedGen UID:: 341002
•Concept ID:: C1855900
•: Disease or Syndrome

Synonyms:	CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME; HYPERTRICHOSIS, CONGENITAL GENERALIZED; HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2; Macias-Flores Garcia-Cruz Rivera syndrome
SNOMED CT:	X-linked congenital generalized hypertrichosis (1010628009); Congenital generalized hypertrichosis Macias-Flores type (1010628009); Macias-Flores Garcia-Cruz Rivera syndrome (1010628009)
Modes of inheritance:	X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record X-linked dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0010614
OMIM®:	307150
Orphanet:	ORPHA79495

Definition

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. [from ORDO]