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 Segen's Medical Dictionary. © 2012 Farlex, Inc. [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]

This text presents a comprehensive overview of the psychopathological disorders of childhood and adolescence from a brain-based perspective. [books.google.com]

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]

• Short Stature

  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]

  Clinical description Pentasomy X is associated with developmental delays, short stature, craniofacial anomalies and musculoskeletal abnormalities. [orpha.net]

  Stature) Turner Syndrome Society of the US (Turner's Syndrome, Short Stature) [lhsc.on.ca]

  Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scielo.org.co]

  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 stasis, pyelonephritis [ortho.studio]

• Disability

  More on Wide nasal bridge » Intellectual disability : Intellectual disability, also known as mental retardation, is a term used when there are limits to a person’s ability to learn at an expected level and function in daily 1 ... ... [familydiagnosis.com]

  Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. [wikiwand.com]

  […] other known cases have been intellectually disabled, with an average IQ of 50.[1] The overall portrait is one of moderate intellectual disability,[3] defined by an adult cognitive capacity similar to that of a six- to eight-year-old and the ability to [en.wikipedia.org]

• Developmental Delay

  Developmental profiles usually show global developmental delay and intellectual disability; however, receptive language skills are usually less severely affected than expressive language abilities. [orpha.net]

  Developmental profiles usually show global developmental delay and intellectual disability ; however, receptive language skills are usually less severely affected than expressive language abilities. [rarediseases.info.nih.gov]

• Increased Susceptibility to Infections

  Immunoglobulin anomalies and an increased susceptibility to infection have also been reported. Cardiovascular malformations may also be present. External genitalia are generally normal but gonadal dysfunction has been reported. [orpha.net]

• Recurrent Infection

  There was no history of an increased incidence of recurrent infections. Figure 2 (A) Photograph showing the facial appearance of the patient 11 months after birth. [doi.org]

  However, history of a greatly increased incidence of recurrent infections and fever was found in our case, whereas Boeck et al. [ 13 ] described their patient as having a lifelong history of eczema, recurrent pneumonia and staphylococcal abscess. [ncbi.nlm.nih.gov]

• Malocclusion

  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]

  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 stasis, pyelonephritis [ortho.studio]

  The patient presented a cleft palate, impacted teeth, malocclusion, high caries activity, gingivitis and multiple tooth loss due to caries. [revodonto.bvsalud.org]

  Klisak Division of Medical Genetics, Department of Psychiatry, University of California- Los Angeles, School of Medicine A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth [documents.tips]

• Small Head

  Is a feature very rare, since only is has knowledge of some 25 cases in the world.It was discovered in 1963 and is associated with microcephaly (small head), micrognathia (small jaw) and round face. [wordmeaning.org]

  Children with this genetic abnormality have microcephaly and micrognathia (small head and small jaw). The neck is webbed much like Turner syndrome. There is scoliosis and hypotonia (weak muscles). Toes are overlapping. [nethealthbook.com]

  head that appears to be not proportionate to the body; retardation on fetal growth; & many other physical defects. [signssymptoms.org]

  head [5] Ear abnormalities [5] Widely spaced eyes with upward slanting palpebral fissures and epicanthal folds [5] Short neck [5] Broad nose with a depressed nasal bridge [4] Hyperextension of the elbows [4] [5] Dental abnormalities and cleft palate [en.wikipedia.org]

  Most such patients have had low birth weight, failure to thrive, small head circumference, short stature, delayed psychomotor development, and mental retarda- tion (MR). [documents.tips]

• 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]

• Prolapse

  […] discussion of the literature] 1991 Oct [A rare and little known cause of cyanosis: pulmonary arteriovenous aneurysm] [Arterial blood pressure in Moroccan children and adolescents] 1969 Jun-Jul [A rare cause of "genital" hemorrhage in a little girl: prolapse [database.pherobase.com]

• Psychomotor Retardation

  Abstract Cytogenetic investigations of children with psychomotor retardation gave evidence of pentasomia X in a twelve-month-old girl. [ncbi.nlm.nih.gov]

  Low birth weight Failure to thrive Small head circumference Short stature Mental or psychomotor retardation Flat nasal bridge Mongoloid slant of palpebral fissures Ears abnormal in position or structure Lips everted and furrowed/thick Dental malocclusion [documents.tips]

• Hypertelorism

  The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios. [ncbi.nlm.nih.gov]

  The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first [scholars.northwestern.edu]

  The craniofacial anomalies may include microcephaly, micrognathia, plagiocephaly, hypertelorism, upslanting palpebral fissures, a flat nasal bridge and ear malformations. [orpha.net]

  Characteristic facial features such as hypertelorism, a flat broad nose, and micrognathia are well portrayed. (B) Cleft in the soft palate of our patient. [doi.org]

• Phenylketonuria

  […] higher when there is a close relative with one.[28] Environmental[edit] Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria [en.wikipedia.org]

• Global Developmental Delay

  Developmental profiles usually show global developmental delay and intellectual disability; however, receptive language skills are usually less severely affected than expressive language abilities. [orpha.net]

  […] puberty Intellectual disability Muscular hypotonia Global developmental delay Plagiocephaly Hip dysplasia Patent ductus arteriosus Abnormality of the cardiac septa ... ... [familydiagnosis.com]

• Tremor

  "Seizures and Tremor in People with X & Y Chromosome Variations" (PDF). AXYS: Association for X and Y Chromosome Variations. Retrieved 7 April 2021. ^ Wood A, Kleis L, Toriello H, Cemeroglu AP (17 May 2011). [en.wikipedia.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The therapeutic success of the treatment was strongly supported by the significant cooperation and relationship that grew up along the period of the treatment, as well as the desire to have the treatment done by both the patient and her parents. [scielo.br]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

With early diagnosis and proper treatments, many of those conditions can be minimized or even avoided. [intratec.us]

Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. [wikiwand.com]

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]

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]

More @ themedicalnotes.com Download Image Klinefelter Syndrome Practice Essentials Pathophysiology... More @ medscapestatic.com Download Image Cabin Fever Indoor Winter Outings for Kids Niagara Mommy... [auto-kfz.info]

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]