brain malformation-congenital heart disease-postaxial polydactyly syndrome
Findings
No curated finding names brain malformation-congenital heart disease-postaxial polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0019153), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellar vermisHPOHP:0006817
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- Brittle hairHPOHP:0002299
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Also called
- Goossens-Devriendt syndrome