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19 Possible Causes for Mental Retardation, Muscle Hypotonia, Wide Space Between the First and Second Toe

  • Down Syndrome

    From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[oadoi.org]

  • Dubowitz Syndrome

    Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.org] Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965[ncbi.nlm.nih.gov]

  • Craniofrontonasal Dysplasia

    Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] retardation.[link.springer.com]

  • Weaver Syndrome

    Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov]

  • Ring Chromosome 10

    Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap[rarediseases.info.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.nih.gov]

  • Macrocephaly-Developmental Delay Syndrome

    Medically, mental retardation (MR) or “intellectual disability” (ID, the currently preferred term) is a highly variable, heterogeneous manifestation of central nervous system[mhmedical.com] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Cutis Laxa

    Individuals with EFEMP2 -related cutis laxa usually present with muscle hypotonia. Other common findings are arachnodactyly, joint laxity, and pectus deformities.[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[ncbi.nlm.nih.gov]

  • Kenny-Caffey Syndrome Type 1

    Liver problems After infancy include: Hypotonia Muscle pain Breakdown of muscle tissue Peripheral neuropathy Infants with mitochondrial trifunctional protein deficiency are[wikidoc.org] space between the first and second toes.[medcraveonline.com] Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died.[scienceopen.com]

  • Trisomy 10p

    Hypotonia Respiratory System Hypoplastic And Cystic Lungs And Abnormal Lobulation Gastrointestinal System Agenesis Of Gallbladder Anal Atresia Synonyms: 10P Syndrome 10P[neo-genetics.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.[ncbi.nlm.nih.gov]

  • Genee-Wiedemann Syndrome

    Grubben de Cock Borghgraef syndrome 0 *Developmental Disabilities *Eczema/congenital *Muscle Hypotonia/congenital *Tooth Abnormalities *Limb Deformities, Congenital.[reference.md] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] Miller An extremely rare genetic mental retardation-multiple congenital anomalies syndrome.[whonamedit.com]

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