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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.
Features include: Aganglionic megacolon, Type D brachydactyly, and Short thumb.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:45 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hirschsprung disease-type D brachydactyly syndrome
AI-curated news mentioning Hirschsprung disease-type D brachydactyly syndrome
Updated Sep 4, 2026
A new study explores CYP4F22-related autosomal recessive congenital ichthyosis, highlighting its association with Hirschsprung disease and Bartter-like renal manifestations. This research adds to the understanding of genetic links between these rare conditions.
A systematic review examines operative strategies for managing Hirschsprung disease in adults, highlighting the need for tailored surgical approaches. This research contributes to the understanding of adult presentations of this rare condition.
A recent study provides indirect evidence supporting the volume-outcome relationship in corrective surgery for Hirschsprung disease, drawing insights from adult colorectal surgery. This research may influence surgical practices and outcomes for patients with this rare condition.