tibial aplasia-ectrodactyly syndrome
Findings
No curated finding names tibial aplasia-ectrodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0018050), read 2026-09-29. CC BY 4.0.
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.
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the tibiaHPOHP:0005772
- Frequent (30% to 79% of cases)
- EctrodactylyHPOHP:0100257
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Occasional (5% to 29% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the ulnaHPOHP:0006495
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Femoral bowingHPOHP:0002980
- Occasional (5% to 29% of cases)
- Fibular hypoplasiaHPOHP:0003038
- Occasional (5% to 29% of cases)
- Finger syndactylyHPOHP:0006101
- Occasional (5% to 29% of cases)
- OmphaloceleHPOHP:0001539
- Occasional (5% to 29% of cases)
Show the remaining 6
- Overfolded helixHPOHP:0000396
- Occasional (5% to 29% of cases)
- Patellar aplasiaHPOHP:0006443
- Occasional (5% to 29% of cases)
- Popliteal pterygiumHPOHP:0009756
- Occasional (5% to 29% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Occasional (5% to 29% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Occasional (5% to 29% of cases)
- Short femurHPOHP:0003097
- Occasional (5% to 29% of cases)
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.
- BHLHA9HGNC:35126
- Strong · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
8 names
Resolves to: tibial aplasia-ectrodactyly syndrome
- Also called
- aplasia of tibia with split-hand/split-foot deformitySHFLD syndromeSHFM associated with aplasia of long bonessplit hand/foot malformation with long bone deficiencysplit-hand/foot malformation associated with aplasia of long bonesTH-SHFMtibial hemimelia with split hand/foot malformationtibial hemimelia-ectrodactyly syndrome