Hirschsprung disease-type D brachydactyly syndrome
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0021189
intestinal motility disease
is_a
Hirschsprung disease type d brachydactyly
related
Hirschsprung disease with type d brachydactyly
exact
familial Hirschsprung's disease and type D brachydactyly
related