split hand-foot malformation 1 with sensorineural hearing loss
ORPHA: 71271
Overview
split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:71271split hand-foot malformation 1 with sensorineural hearing loss
| Orphanet | ORPHA:71271 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO