A genetic disorder of females who present in infancy with patent ductus arteriosus, mental and growth retardation, upward slanting of eyes, carpal hypoplasia, and clinodactyly of the 5th finger XXXXX syndrome 49, XXXXX, penta-X syndrome A ♀ presenting [medical-dictionary.thefreedictionary.com]

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. [scholars.opb.msu.edu]

Cardiovascular malformations may also be present. External genitalia are generally normal but gonadal dysfunction has been reported. [orpha.net]

Abstract A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral [unboundmedicine.com]

The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions. [ingentaconnect.com]

• Delayed Speech Development

  The characteristic phenotype associated with a 49,XXXXX karyotype is more severe than in X trisomies and tetrasomies [ 25, 31 ], including severe mental retardation with delayed speech development, short stature, coarse facial features, osseous and articular [doi.org]

• Pleural Effusion

  Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

• Hyperlaxity

  1/19 [−] Congenital Heart Disease 9/20 [+] upward slanting palpebral fissures 8/19 [−] Skeletal Anomalies hypertelorism 2/6 [−] proximal radioulnar synostosis 2/6 [−] ear anomalies 11/20 [+] hand arachnodactyly 1/6 [−] depressed nasal bridge 1/6 [−] hyperlaxity [ncbi.nlm.nih.gov]

• Cranial Asymmetry

  She had microcephaly but no cranial asymmetry, and normal pinnae with some posterior rotation of the right. An epicanthic fold was indicated on the right; the nasal bridge was broad, but there was no hyper- telorism. [documents.tips]

• Depressed Nasal Bridge

  nasal bridge [4] Hyperextension of the elbows [4] [5] Dental abnormalities and cleft palate [4] [5] Clinodactyly of the fifth finger [4] [5] Deformities of the feet [4] [5] Heart defects [5] [6] Causes [ edit ] The aneuploidy is thought to be caused [en.wikipedia.org]

  nasal bridge 1/6 [−] hyperlaxity of joints 2/7 [−] flat nasal bridge 1/6 [−] thenar atrophy 1/6 [+] a flat upturned nose 1/6 [−] Neurological Anomalies micrognathia 2/6 [+] hypotonia 4/7 [+] retrognathia 3/7 [−] cleft palate 1/6 [−] short neck 9/20 [ [ncbi.nlm.nih.gov]

• Pleural Effusion

  Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Penta X Syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

However, the intellectual disabilities observed in pentasomy X are rare in Turner syndrome.[5] Prognosis[edit] The long-term prognosis of pentasomy X is unclear, due to its low prevalence.[1] Though some reviews claim a poor prognosis due to the congenital [en.wikipedia.org]

The prognosis of tetrasomy girls is relatively good, if mental retardation is not too severe. Many will need estrogen therapy during puberty to help initiate breast development. [nethealthbook.com]

The patients with pentasomy X syndrome have a poor prognosis due to severe cardiac failure and infectious diseases [ 2, 9 – 12 ]. [ncbi.nlm.nih.gov]

Etiology Pentasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. [orpha.net]

Each chapter includes the etiology of each disorder (including genetics), its prevalence, clinical presentation, assessment considerations, and evidence-based treatments. [books.google.com]

Summary Epidemiology The prevalence is unknown but less than 40 cases have been described in the literature so far. [orpha.net]

Geophagia syndrome] 1988 Oct [A comparative epidemiologic study of chronic juvenile arthritis in the western section of Paris and Brittany (1982)] [Epidemiology, over an 8 year period, of attempted suicides in children, seen in emergency service] 1972 [database.pherobase.com]

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Currently, 49,XXXXX Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development. [childrenscolorado.org]

Adopting measures to promote health, as well as early preventive and curative actions is important when providing dental care for patients with special needs. [revodonto.bvsalud.org]