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

  • 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] For example, many people affected by the disease have a small face and head. Sometimes they have a high forehead that slopes as well.[wisegeek.net]

  • 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] General appearance of the patient was characterized by a small, narrow face and forehead, slightly beaked nose, midfacial hypoplasia, very stunted stature with microcephaly[termedia.pl] […] head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability.[liveleak.com]

  • 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] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net]

  • 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] The wide prominent forehead contrasts with the small, triangular face with a small pointed chin, a wide mouth with thin lips and down-turned corners, large eyes and bluish[orpha.net]

  • 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] Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com]

  • 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] , short webbed neck EYES: hypertelorism, ptosis, epicanthal folds, refractory errors EARS: low-set, posteriorly rotated, thick helix, COM NOSE: small upturned - Cardiac: PS[quizlet.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] […] forehead, triangular-shaped face, and large ears.[cutislaxa.pitt.edu]

  • 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] […] disorders (4) Cognitive impairment (6) Concussion (7) Dementia (21) Epilepsy (3) Global developmental delay (2) Guillain-barre syndrome (2) Headache (3) Ischemic stroke ([innovations.ahrq.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] Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes[rarediseases.info.nih.gov]

  • 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] Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face, a distinctive implantation of hair that grows backwards, large sutures[orpha.net]

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