XXXXX syndrome

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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.

Effects

Physical traits

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.

Internal organs

The heart is usually affected by patent ductus arteriosus, atrial septal defect, ventricular septal defect, and aortic dextroposition. There is abnormal lobulation of the lungs and neonatal asphyxia. The ovaries are abnormally shaped with a small uterus and kidney hypoplasia.

Growth and development

XXXXX syndrome affects mental, growth, and motor retardation. There is occasional delayed puberty. Behavior and performance is affected by Opisthotonoid posture.

References

• Linden MG, Bender BG, Robinson A (1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics 96 (4 Pt 1): 672-82. PMID 7567329.

External links

• Tetrasomy & Pentasomy X Syndrome Information and Support
• DDB 32625
• [1]

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .