split hand-foot malformation 1

ORPHA: 2440

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region

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 split hand-foot malformation 1, sourced from HPO and Orphanet clinical annotations.

OligodactylySplit footHand monodactylyFinger syndactylySensorineural hearing impairmentAniridiaSplit handAbsent hand

Classification & Codes

Orphanet Code

ORPHA:2440

split hand-foot malformation 1

Orphanet	`ORPHA:2440`
Treatments	0 drug(s)
Symptoms on record	8 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO