genito-palato-cardiac syndrome
MONDO:0009270Mondo
Findings
No curated finding names genito-palato-cardiac syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009270), read 2026-09-29. CC BY 4.0.
Features
25 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 cardiac septum morphologyHPOHP:0001671
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Male pseudohermaphroditismHPOHP:0000037
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Gonadal dysgenesis, maleHPOHP:0008668
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
Show the remaining 13
- Abnormal mesentery morphologyHPOHP:0100016
- Occasional (5% to 29% of cases)
- Abnormality of the gallbladderHPOHP:0005264
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Occasional (5% to 29% of cases)
- Downturned corners of mouthHPOHP:0002714
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: genito-palato-cardiac syndrome
- Also called
- Gardner-Silengo-Wachtel syndrome