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11 Possible Causes for Cognitive Developmental Delay, 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] […] variants: or Down's syndrome Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in[merriam-webster.com]

  • 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] The feeding difficulties, developmental and cognitive delay, mottled skin, drug-induced long QT syndrome, short stature, microcephaly, small ears, 2–3 cutaneous syndactyly[journals.plos.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]

  • Macrocephaly-Developmental Delay Syndrome

    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] Since the early 2000s, PTEN germline mutation haploinsufficiency has been reported in association with autism, variable cognitive impairment and developmental delay in the[consultqd.clevelandclinic.org]

  • Atelosteogenesis Type 2

    He had difficulty in walking, mild proximal muscular hypotonia in the lower extremities and hyperactive deep tendon reflexes.[nature.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] Developmental delay may be temporal or permanent; for example, in achondroplasia, motor development may be delayed in the first 2 years, due to macrocephaly and ligamentous[musculoskeletalkey.com]

  • 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] Despite delays in developmental milestones and language, affected children are said to be cheerful and outgoing. Neurologic findings Cognitive.[ncbi.nlm.nih.gov]

  • Russell-Silver Syndrome

    Generalized low muscle tone in neonate 0008935 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more[rarediseases.info.nih.gov] Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.org] Furthermore, these developmental deficits and/or delays may contribute towards an emerging clinical presentation of a progressively depressed individual with RSS.[omicsonline.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Cramp Muscle Hypertonia Muscle Hypotonia Muscle Neoplasms Muscle Rigidity Muscle Spasticity Muscle Weakness Muscular Atrophy Muscular Atrophy, Spinal Muscular Diseases Muscular[medgene.med.harvard.edu] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Developmental delays are common. Infancy and childhood milestones are often delayed. Many patients have cognitive delays and some are mildly retarded.[disorders.eyes.arizona.edu]

  • 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] Estimates have been made for individuals with specific clinical presentations such as developmental delay/cognitive disability and autism spectrum disorders; in these phenotypes[nature.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] The last physical examinationwas at 12months of age and a global developmental delay was established.[docslide.fr]

  • MORM Syndrome

    Decreased facial muscle tone Low facial muscle tone Reduced facial muscle tone [ more ] 0000297 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290[rarediseases.info.nih.gov] […] and developmental delays that range from moderate to severe.[huntershope.org] Developmental delay, learning challenges and attention deficit disorder Most people with Williams syndrome will have mild to severe learning differences and cognitive challenges[williams-syndrome.org]

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