Symptoma

X-Linked Syndromic Mental Retardation Type Turner

Juberg-Marsidi Syndrome

Acronym MRXST Synonyms Mental retardation and macrocephaly syndrome MRXS-Turner Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. [ncbi.nlm.nih.gov]

The mutation arose as a de novo event in the mother and is also present in her other affected son as well as two of her daughters ( figure 1 C). [bmjopen.bmj.com]

This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility. [diapedia.org]

The presentation of epilepsy varies according to the syndrome and also with age. For example, in Angelman syndrome seizures are present in infancy but become less frequent with the passage of time. [intellectualdisability.info]

  • Hyperextensible Joints

    Additional features were brachydactyly, decreased musculature of the distal legs, foot deformation (right foot everted, left foot with midfoot varus), scoliosis, flexion of the hips, genu vara, soft loose skin over the hands and hyperextensible joints [bmjopen.bmj.com]

  • Esotropia

    […] two affected brothers and a nephew were generalised intrauterine and postnatal growth retardation, severe intellectual disability, triangular-shaped face, low posterior hairline, bifrontal narrowness, malar flatness, blepharophimosis, optic atrophy, esotropia [bmjopen.bmj.com]

    %611222 SYNDROMIC MICROPHTHALMIA 11 Microphthalmia, optic nerve hypoplasia AR VAX1 #614402 SYNDROMIC MICROPHTHALMIA 12 Anophthalmia, microphthalmia AD RARB #615524 SYNDROMIC MICROPHTHALMIA 13 Microphthalmia, microcornea, ptosis, coloboma, nystagmus, esotropia [eyewiki.aao.org]

  • Small Palpebral Fissures

    Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or [ncbi.nlm.nih.gov]

  • Coarse Face

    The older brother also has cupped ears, thick eyebrows and coarse face. , presence of mutation; , normal;, proband;, affected;, carrier. [bmjopen.bmj.com]

  • Bulbous Nose

    nose, low-set and cupped ears, short philtrum, thin tented upper lip and pectus excavatum ( figure 1 B). 10 They were poorly coordinated and became self-abusive, hyperactive and spastic with large joint contractures. [bmjopen.bmj.com]

  • Thin Lips

    Our clinical re-evaluation of the surviving male in the original JMS family showed findings that were not consistent with ATRX -associated XLID, specifically bifrontal narrowing, hypotelorism, prominent nose and thin lips, prompting us to question their [bmjopen.bmj.com]

  • Broad Nasal Bridge

    Craniofacial features include deep-set eyes, broad nasal bridge and nasal tip, a wide mouth, a thin upper lip and prognathism ( figure 1 C and table 1 ). [bmjopen.bmj.com]

  • Poor or Absent Speech

    Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. [ncbi.nlm.nih.gov]

Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup to assess the structure and function of the heart. This will include an echocardiogram. [rarediseases.org]

Many will go undiagnosed until maturity as adults undergoing infertility workups. Fetuses are typically identified during amniocentesis performed for advanced maternal age. They are not normally identified because of an abnormal ultrasound finding. [chw.org]

Norm-referenced testing for IQ and adaptive functioning (a.k.a. neuropsychological, neurocognitive or psychoeducational testing) is critical to confirm the diagnosis, provide some idea of the child's prognosis, guide therapeutic interventions, and a diagnostic workup [medicalhomeportal.org]

  • Delayed Bone Age

    Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). [ncbi.nlm.nih.gov]

    Skeletal surveys in both boys demonstrated only brachycephaly and delayed bone age (prior to treatment with growth hormone). [bmjopen.bmj.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]

Treatment Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties. [medicalnewstoday.com]

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]

A sleep study may lead to diagnosis of a causative factor, such as seizures, apnea,, or restless leg syndrome, which have potential treatments. Nonspecific treatments, such as melatonin or sleep medications, may also be useful. [medicalhomeportal.org]

Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Treatment is completely dependent on the disorder or syndrome, the prognosis of the disorder and parental wishes. Some disorders have very short life expectancies for which treatment would not be beneficial. [chw.org]

Prognosis Edit While most of the physical findings are harmless, there can be significant medical problems associated with the syndrome. [psychology.wikia.com]

Norm-referenced testing for IQ and adaptive functioning (a.k.a. neuropsychological, neurocognitive or psychoeducational testing) is critical to confirm the diagnosis, provide some idea of the child's prognosis, guide therapeutic interventions, and a diagnostic [medicalhomeportal.org]

Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]

Overview Intellectual disability (ID) describes a heterogeneous group of conditions characterized by low or very low intelligence and deficits in adaptive behaviors without reference to etiology. [medicalhomeportal.org]

A genetic etiology is reported to account for as many as 60% of cases (McLaren and Bryson. 1987. PubMed ID: 3322329; Kaufman et al. 2010. PubMed ID: 21124998; Fieremans et al. 2016. PubMed ID: 27159028). [preventiongenetics.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Journal of Epidemiology and Community Health 40 (2): 97–102. 10.0 10.1 10.2 10.3 10.4 10.5 Mazzanti L, Cacciari E (Nov 1998). Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J. [psychology.wikia.com]

[…] an embryo, which is carried by the Turner syndrome woman. [44] Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy. [47] Epidemiology [checkrare.com]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

Prevention - Wilson-Turner X-linked mental retardation syndrome Not supplied. Diagnosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]

Fortunately, preventative measures, such as good diet and physiotherapy, can ameliorate the consequences of medical and behavioural complications. [intellectualdisability.info]

Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. [medicalnewstoday.com]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

None of these traits prevent them from being socially accepted as ordinary adult women. Individuals who are genetic mosaics (XX/XXX) have less noticeable symptoms. Triple-X syndrome is less rare than Turner syndrome, but little is known about it. [www2.palomar.edu]