split hand-foot malformation 1
MONDO:0008464Mondo
Findings
No curated finding names split hand-foot malformation 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Split-hand/foot malformation mapped to chromosome 7q21.3
Definition from the Mondo Disease Ontology (MONDO:0008464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Finger aplasiaHPOHP:0009380
- Frequent (30% to 79% of cases)
- Foot oligodactylyHPOHP:0001849
- Frequent (30% to 79% of cases)
- SyndactylyHPOHP:0001159
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- 35% of reported patients
- Hearing impairmentHPOHP:0000365
- 35% of reported patients
- Intellectual disabilityHPOHP:0001249
- 33% of reported patients
- Abnormal cardiovascular system morphologyHPOHP:0030680
Show the remaining 6
- Lacrimal duct aplasiaHPOHP:0007925
- Median cleft upper lipHPOHP:0000161
- Sensorineural hearing impairmentHPOHP:0000407
- Split footHPOHP:0001839
- Split handHPOHP:0001171
- Toe syndactylyHPOHP:0001770
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DLX5HGNC:2918
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
5 names
Resolves to: split hand-foot malformation 1
- Also called
- SHFD1SHFM1split hand-foot malformation type 1split hand/foot malformation 1split-hand/foot malformation type 1