Klinefelter syndrome

Definition

A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

Also known as 47,XXY syndrome, Klinefelter syndrome, Klinefelter's syndrome, Klinefelter's syndrome, XXY, XXY syndrome, XXY syndrome (Klinefelter syndrome) — per MONDO

Also identified as

• DOID 1921 per MONDO
• MESH D007713 per MONDO
• NCIT C34752 per MONDO
• SCTID 405769009 per MONDO
• UMLS C0022735 per MONDO

Affected Organs