XY type gonadal dysgenesis-associated anomalies syndrome https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies https://www.malacards.org/card/xy_type_gonadal_dysgenesis_associated_anomalies_syndrome gonadal dysgenesis, 10Y type, with associated anomalies GARD:0002541 UMLS:C1856272 gonadal dysgenesis, XY type, with associated anomalies MEDGEN:344696 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. Orphanet:1770 MESH:C565536 OMIM:233430 MONDO:0009302 gonadal dysgenesis XY type associated anomalies 46,XY disorder of sex development