Hirschsprung disease-type D brachydactyly syndrome
Findings
No curated finding names Hirschsprung disease-type D brachydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016294), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- Aplastic/hypoplastic toenailHPOHP:0010624
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Hypoplastic fingernailHPOHP:0001804
- Frequent (30% to 79% of cases)
- Short distal phalanx of the thumbHPOHP:0009650
- Frequent (30% to 79% of cases)
- Short phalanx of halluxHPOHP:0010111
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Hirschsprung disease-type D brachydactyly syndrome
- Also called
- Hirschsprung disease with type d brachydactyly