XY type gonadal dysgenesis-associated anomalies syndrome
Findings
No curated finding names XY type gonadal dysgenesis-associated anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009302), read 2026-09-29. CC BY 4.0.
Features
26 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 hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- Abnormality of the ureterHPOHP:0000069
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
- Preauricular pitHPOHP:0004467
- Very frequent (80% to 99% of cases)
- Umbilical herniaHPOHP:0001537
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
Where it sits
- A kind of