Definition for XXXXX Syndrome

XXXXX syndrome (also called pentasomy X) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. more

XXXXX syndrome (also called pentasomy X) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. Approximately 25 females have been described in medical literature worldwide with this rare condition. The condition was first described in 1963.XXXXX syndrome is associated with microcephaly, micrognathia, and round face. The ears are generally low-set and malformed. Eyes are upslanting and show palpebral fissures, hypertelorism, and strabismus. Usually the nose is shaped with a broad and depressed nasal bridge and epicanthus, with the mouth having a cleft palate, highly arched palate, dental abnormalities, and thick, furrowed, and everted lips. The neck is webbed, much like the underarms of a woman with Turner's Syndrome. The hands and feet are small with overlapping toes, camptodactyly, clinodactyly, talipes equinovarus, and metatarsus varus. Scoliosis generally affects the spine and hypotonia affects the muscles. less