camptodactyly-taurinuria syndrome
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
MONDO:0019054
congenital limb malformation
is_a
camptodactyly taurinuria
related
camptodactyly with taurinuria
related
familial streblodactyly with amino-aciduria
exact