Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
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 Nov 3, 2026, 10:18 PM 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 21, 2026
A recent study explores the link between mental health and quality of life in adolescents with anorectal malformations and Hirschsprung disease. The findings highlight the importance of addressing mental health in this patient population to improve overall well-being.
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.