Cure My Disease

Don't miss your cure!

 Log in / Sign up

XY type gonadal dysgenesis-associated anomalies syndrome

MONDO:0009302

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.

Also known as: gonadal dysgenesis XY type associated anomalies, gonadal dysgenesis, 10Y type, with associated anomalies, gonadal dysgenesis, XY type, with associated anomalies

5 clinical trials for this condition and its sub-types, 0 tagged with XY type gonadal dysgenesis-associated anomalies syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ 46,XY disorder of sex development (10)
Including sub-types (5) Tagged with XY type gonadal dysgenesis-associated anomalies syndrome (0)
Trials to join now! 4 Not yet finished but already full! 1
Sort by