heart defect - tongue hamartoma - polysyndactyly syndrome
MONDO:0009008Mondo
Findings
No curated finding names heart defect - tongue hamartoma - polysyndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Coarctation of aortaHPOHP:0001680
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Hamartoma of tongueHPOHP:0011802
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Postaxial polydactyly type AHPOHP:0005696
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- Very frequent (80% to 99% of cases)
- Subvalvular aortic stenosisHPOHP:0001682
- Very frequent (80% to 99% of cases)
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- Frequent (30% to 79% of cases)
- Benign neoplasm of the central nervous systemHPOHP:0100835
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 0 of 1 reported patient
Show the remaining 2
- HypertelorismHPOHP:0000316
- 0 of 1 reported patient
- Orofacial cleftHPOHP:0000202
- 0 of 1 reported patient
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.
- HGNC:28027HGNC:28027
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: heart defect - tongue hamartoma - polysyndactyly syndrome
- Also called
- Ostravik-Lindemann-Solberg syndrome