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13 Possible Causes for Cognitive Developmental Delay, Mental Retardation, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    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] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com] The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak-like triangular nose, and mental retardation[ncbi.nlm.nih.gov]

  • Down Syndrome

    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] 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

    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 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] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.org]

  • Macrocephaly-Developmental Delay Syndrome

    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] Medically, mental retardation (MR) or “intellectual disability” (ID, the currently preferred term) is a highly variable, heterogeneous manifestation of central nervous system[mhmedical.com]

  • Cutis Laxa

    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] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[ncbi.nlm.nih.gov]

  • Genee-Wiedemann Syndrome

    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] Miller An extremely rare genetic mental retardation-multiple congenital anomalies syndrome.[whonamedit.com]

  • Trisomy 10p

    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] Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age.[ncbi.nlm.nih.gov]

  • Atelosteogenesis Type 2

    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] Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies KBGS 148050 Genetic Test Registry Kniest Dysplasia 156550 Genetic Test Registry Larsen Syndrome[ukgtn.nhs.uk]

  • Russell-Silver Syndrome

    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] Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.org] At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    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] […] retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.[mendelian.co]

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