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3,986 Possible Causes for Psychomotor Development Profoundly Delayed, Short Stature, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like[ncbi.nlm.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] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.[ncbi.nlm.nih.gov]

  • Down Syndrome

    stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Dubowitz Syndrome

    Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly, mild mental retardation[wikidata.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] To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated[ncbi.nlm.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed
  • Atelosteogenesis Type 2

    More than 200 inherited skeletal dysplasias are currently recognised.[socialstyrelsen.se] 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] Skeletal dysplasia is an abnormal bone growth that affects the victim leading to shortness and irregular bone structures especially on the forehead and the entire skeleton[epainassist.com]

    Missing: Psychomotor Development Profoundly Delayed
  • Ring Chromosome 10

    Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.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] Patients with type 1 have generally a normal phenotype , with only occasional reports of short stature.[omicsonline.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[ncbi.nlm.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] PURPOSE: The purpose of this study was to assess the occlusal characteristics of individuals with growth hormone deficiency (GHD), idiopathic short stature (ISS), and Russell-Silver[ncbi.nlm.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed
  • Autosomal Recessive Microcephaly with Chorioretinopathy Type 2
    Missing: Wide Space Between the First and Second Toe
  • Short Stature due to Endocrine Disorder

    […] nonfamilial short stature).[karger.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] stature Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to partial GHR deficiency Short stature due to primary[se-atlas.de]

    Missing: Psychomotor Development Profoundly Delayed
  • Greenberg Dysplasia

    skeletal dysplasias and dysostoses ...[ibis-birthdefects.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] Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck.[doi.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[springermedizin.de] space between the first and second toes.[medcraveonline.com] Patients with FAM111A mutations have severe short stature ( 3 to 7 SDS) [ 4 ].[ijpeonline.biomedcentral.com]

    Missing: Psychomotor Development Profoundly Delayed

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