DISEASE: Congenital hypotrichosis with juvenile macular dystrophy
Entry
H00785 Disease
Name
Congenital hypotrichosis with juvenile macular dystrophy
Description
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H00785 Congenital hypotrichosis with juvenile macular dystrophy
Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J
Title
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
