Presentation
There has always been a question regarding his visual ability and mentally he is presently considered to be regressing with age. [jmg.bmj.com]
Curtis Rogers Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features Presents clinical and laboratory data on 150 syndromes Defines each syndrome and provides information on somatic features [global.oup.com]
Below are five such discoveries made so far that are presented as visualizations of the typical facial shape and form (called a “gestalt”) of patients with these syndromes. [fdna.com]
Entire Body System
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Disability
[…] deafness Eyes: external ophthalmoplegia Growth: growth retardation Clinical features from OMIM: 312840 Human phenotypes related to Schimke X-Linked Mental Retardation Syndrome: 32 (show all 7) # Description HPO Frequency HPO Source Accession 1 intellectual disability [malacards.org]
disability Najm type syndromic X-linked intellectual disability Nascimento type syndromic X-linked intellectual disability Shashi type syndromic X-linked intellectual disability Shrimpton type syndromic X-linked intellectual disability Siderius type [familydiagnosis.com]
disability Birk-Barel type (disorder) {764861005, SNOMED-CT } Intellectual disability Buenos Aires type (disorder) {725906006, SNOMED-CT } Intellectual disability due to nutritional deficiency (disorder) {763626009, SNOMED-CT } Intellectual disability [phinvads.cdc.gov]
12 syndromic X-linked intellectual disability 14 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 7 syndromic X-linked [rgd.mcw.edu]
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Movement Disorder
disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic [se-atlas.de]
disorders (WES) Neurological Muscle disorders (WES) Neurological Neurodegeneration due to cerebral folate transport deficiency Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease [gdnm.nl]
Eyes
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Ectopia Lentis
LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment AR ADAMTSL4 #225200 ECTOPIA LENTIS, FAMILIAL Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens [eyewiki.aao.org]
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Marcus Gunn Pupil
AD CHD7, SEMA3E #214800 CHEDIAK-HIGASHI SYNDROME Decreased iris pigmentation, nystagmus, photophobia, strabismus, macular hypoplasia AR CHS1 #214500 CHERUBISM Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn [eyewiki.aao.org]
Musculoskeletal
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Muscle Spasticity
Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.Visit the Orphanet disease page for more resources. [malacards.org]
Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. [orpha.net]
Ears
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Hearing Impairment
impairment 32 HP:0000365 4 growth delay 32 HP:0001510 5 choreoathetosis 32 HP:0001266 6 external ophthalmoplegia 32 HP:0000544 7 postnatal microcephaly 32 HP:0005484 UMLS symptoms related to Schimke X-Linked Mental Retardation Syndrome: ophthalmoplegia [malacards.org]
Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [gdnm.nl]
impairment Deafness Hearing defect [ more ] 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Postnatal microcephaly 0005484 Spasticity Involuntary muscle stiffness [rarediseases.info.nih.gov]
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Hearing Impairment
impairment 32 HP:0000365 4 growth delay 32 HP:0001510 5 choreoathetosis 32 HP:0001266 6 external ophthalmoplegia 32 HP:0000544 7 postnatal microcephaly 32 HP:0005484 UMLS symptoms related to Schimke X-Linked Mental Retardation Syndrome: ophthalmoplegia [malacards.org]
Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [gdnm.nl]
impairment Deafness Hearing defect [ more ] 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Postnatal microcephaly 0005484 Spasticity Involuntary muscle stiffness [rarediseases.info.nih.gov]
Treatment
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]
Individual service plan (ISP): A treatment plan for an eligible recipient that includes the eligible recipient's needs, functional level, intermediate and long range goals, statement for achieving the goals and specifies responsibilities for the care [164.64.110.134]
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]
Etiology
[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]
Prevention
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]