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X-Linked Syndromic Intellectual Disability Type Schimke

Schimke X-Linked Mental Retardation Syndrome


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]
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]
  • […] intellectual disability 1 - See IQSEC2 X-linked intellectual disability 1/78 - See IQSEC2 X-linked intellectual disability 78 - See IQSEC2 X-linked intellectual disability with hypotonia - See Allan-Herndon-Dudley syndrome X-linked intellectual disability[herenciageneticayenfermedad.blogspot.com]
  • disability Armfield type (disorder) {719017003 , SNOMED-CT } X-linked intellectual disability Atkin type (disorder) {718577005 , SNOMED-CT } X-linked intellectual disability Brooks type (disorder) {725912001 , SNOMED-CT } X-linked intellectual disability[phinvads.cdc.gov]
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]
Keratosis
  • Early-onset parkinsonism-intellectual disability syndrome Early-onset X-linked isolated optic atrophy focal dermal hypoplasia fragile X syndrome Frontometaphyseal dysplasia HSD10 disease Intellectual disability-developmental delay-contractures syndrome Keratosis[familydiagnosis.com]
  • […] of chromosome 14 Kapur-Toriello syndrome Kearns-Sayre syndrome Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kennedy disease Keratosis[se-atlas.de]
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]
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]
Stereotypic Hand Movements
  • hand movements syndrome Severe X-linked intellectual disability, Gustavson type Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 2 Skeletal dysplasia-intellectual disability syndrome Spasticity-intellectual disability-X-linked epilepsy[familydiagnosis.com]
  • hand movements syndrome Severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia[se-atlas.de]

Workup

Nephrolithiasis
  • […] parkinsonism-intellectual disability syndrome X-linked recessive cone dystrophy with tapetal-like sheen - See Cone dystrophy X-linked with tapetal-like sheen X-linked recessive hypercalciuric hypophosphatemic rickets - See Dent disease X-linked recessive nephrolithiasis[herenciageneticayenfermedad.blogspot.com]
  • Renal / Nephrological Meckel syndrome Renal / Nephrological Medullary Cystic Kidney disease Renal / Nephrological Nail Patella syndrome Renal / Nephrological Neonatal hyperparathyroidism Renal / Nephrological Nephrogenic syndrome Renal / Nephrological Nephrolithiasis[gdnm.nl]

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]

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