49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape normal to tall stature moderate to severe intellectual disability distinctive facial features (e.g. prominent forehead epicanthic folds broad nasal bridge prognathism) gynecomastia hypogonadism cryptorchidism small penis and behavioral abnormalities (incl. solitary passive disposition but prone to aggressive outbursts autistic). Skeletal malformations such as delayed bone age fifth finger clinodactyly elbow malformations and slow molar development may also be associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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