Hirschsprung disease-type D brachydactyly syndrome
MeSH: C538319ORPHA: 2150
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Hirschsprung disease-type D brachydactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Aganglionic megacolonAplastic/hypoplastic toenailBrachydactylyHypoplastic fingernailShort distal phalanx of the thumbShort phalanx of hallux
Classification & Codes
MeSH Code
C538319Orphanet Code
ORPHA:2150Hirschsprung disease-type D brachydactyly syndrome
| MeSH | C538319 |
| Orphanet | ORPHA:2150 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO