48,XYYY syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

48,XYYY syndrome

A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech) normal to mild intellectual disability large irregular teeth with poor enamel tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia while hypogonadism and infertility is frequently reported in adult males.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
48,XYYY syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.