Presentation
Acronym MRXSSD Synonyms Mental retardation X-linked Siderius type Siderius-Hamel syndrome Siderius X-linked mental retardation syndrome Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational [uniprot.org]
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Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. [rarediseases.info.nih.gov]
Entire Body System
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Physician
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their [books.google.com]
Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]
Am Fam Physician 61 (4): 1059–67, 1070. PMID 10706158 5. Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (September 2006). “The Ciliopathies : An Emerging Class of Human Genetic Disorders”. [aegyokawaiisneurodiversityblog.wordpress.com]
Because service provision is tied to the designation developmental disability, it is used by many parents, direct support professionals, and physicians. [cognopedia.com]
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Atrial Septal Defect
Malformations in other systems commonlyaccompany the cardiovascular anomalies (Fig. 1).TARP syndrome is defined by four key findingstalipes equi-novarus, atrial septal defect, Robin sequence, and persistence of theleft superior vena cava [Gripp et al. [docslide.com.br]
Respiratoric
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Nasal Voice
voice 0001611 Pes planus Flat feet Flat foot [ more ] 0001763 Prominent supraorbital ridges Prominent brow 0000336 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Thoracic kyphosis 0002942 Upslanted palpebral fissure Upward slanting [rarediseases.info.nih.gov]
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Delayed Speech Development
speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]
Musculoskeletal
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Large Hand
Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. [rarediseases.info.nih.gov]
Affected individuals may also have low-set ears and large hands. While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. [ghr.nlm.nih.gov]
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Long Hands
[…] various sources for Siderius type X-linked mental retardation syndrome includes the 12 symptoms listed below: * Mental retardation * Unusual facial appearance * Long face * Broad nose tip * Cleft lip * Cleft palate * Extra thumb * Undescended testes * Long [checkorphan.org]
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Thin Fingers
Causes - Siderius X-linked mental retardation syndrome Other Possible Causes of these Symptoms * Cleft lip * Cleft palate * Flat feet * Long face * Long thin fingers * Mental retardation * Unusual facial appearance Prevention - Siderius X-linked mental [checkorphan.org]
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Long Toes
toe Increased length of toes Long toes [ more ] 0010511 Nasal speech Nasal voice 0001611 Pes planus Flat feet Flat foot [ more ] 0001763 Prominent supraorbital ridges Prominent brow 0000336 Sloping forehead Inclined forehead Receding forehead [ more [rarediseases.info.nih.gov]
Face, Head & Neck
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Cleft Lip and-or Palate
Orpha Number: 85287 Disease definition X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip /palate. [rarediseases.info.nih.gov]
Urogenital
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Cryptorchidism
Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. [rarediseases.info.nih.gov]
Neurologic
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Language Delays
delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Intellectual disability Mental deficiency Mental retardation [rarediseases.info.nih.gov]
delays or with suspected hearing loss) Nutritionists (who help with treatment of undernutrition) Social workers (who help reduce environmental deprivation and identify key resources) Although there is no specific medication for intellectual disability [aegyokawaiisneurodiversityblog.wordpress.com]
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Delayed Speech and Language Development
speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]
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Nasal Speech
speech Nasal voice 0001611 Pes planus Flat feet Flat foot [ more ] 0001763 Prominent supraorbital ridges Prominent brow 0000336 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Thoracic kyphosis 0002942 Upslanted palpebral fissure [rarediseases.info.nih.gov]
Treatment
More Symptoms of Siderius X-linked mental retardation syndrome » Genetics of Siderius X-linked mental retardation syndrome Treatments See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal information [familydiagnosis.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 - Siderius X-linked mental retardation syndrome Not supplied. Resources - Siderius X-linked mental retardation syndrome Not supplied. [checkorphan.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Certain infections in pregnancy Preterm birth Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. [medlineplus.gov]
Prognosis
X-linked mental retardation syndrome These home medical tests may be relevant to Siderius type X-linked mental retardation syndrome: * Concentration -- Home Testing * ADHD -- Home Testing * Mental Health: Home Testing: o Home Emotional Stress Tests Prognosis [checkorphan.org]
Realistic methods of caring for affected children must be established.[9] As soon as ID is confirmed or strongly suspected, the parents should be informed and given ample time to discuss causes, effects, prognosis, education and training of the child, [aegyokawaiisneurodiversityblog.wordpress.com]
Etiology
Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. [books.google.com]
"Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects". Birth Defects Research. Part C, Embryo Today. 84 (1): 16–29. doi : 10.1002/bdrc.20117. PMC 2570345. PMID 18383123. [ipfs.io]
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]
“Absence of arcuate fasciculus in children with global developmental delay of unknown etiology: a diffusion tensor imaging study”. J Pediatr 152 (2): 250–5. doi:10.1016/j.jpeds.2007.06.037. PMID 18206698. 7. 8. 9. Posted from WordPress for Android [aegyokawaiisneurodiversityblog.wordpress.com]
The primary anatomicabnormalities, which provide diagnostic clues to the specific syn-drome and its etiology, can be further divided into generalizedskeletal dysplasias and specific focal skeletal malformations(Tables VI and VII).Long bone deficiencies [docslide.com.br]
Epidemiology
Relevant External Links for PHF8 Genetic Association Database (GAD) PHF8 Human Genome Epidemiology (HuGE) Navigator PHF8 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PHF8 No data available for Genatlas for PHF8 Gene Enzymatic and structural [genecards.org]
Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Buscher A, Weber LT, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Koster L, Bruckner T, Schnitzler P, Hirsch HH, Tonshoff B: Epidemiology [forschdb.verwaltung.uni-freiburg.de]
Use of psychotropic medications such as benzodiazepines in people with mental retardation requires monitoring and vigilance as side effects occur commonly and are often misdiagnosed as behavioural and psychiatric problems. [11] Epidemiology Mental retardation [cognopedia.com]
Prevention
Causes - Siderius X-linked mental retardation syndrome Other Possible Causes of these Symptoms * Cleft lip * Cleft palate * Flat feet * Long face * Long thin fingers * Mental retardation * Unusual facial appearance Prevention - Siderius X-linked mental [checkorphan.org]
Developmental Disabilities Centers for Disease Control and Prevention Facts about Developmental Disabilities Centers for Disease Control and Prevention Intellectual and Developmental Disabilities National Institute of Child Health and Human Development [chcrr.org]
Further, chapters are focused on emerging cancer prevention using nutritional components and anti-cancer therapies particularly with histone deacetylase inhibitors, which have already been approved for the treatment of cutaneous T-cell lymphoma. [books.google.com]
While the exact disease mechanism is unknown, it is likely that a lack of PHF8 protein in the nucleus of brain cells before birth prevents chromatin remodeling, altering the normal expression of genes involved in intellectual function and formation of [ghr.nlm.nih.gov]