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14 Possible Causes for Mental Retardation, Proportionate Short Stature, 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] A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short[dnatesting.uchicago.edu] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Kenny-Caffey Syndrome Type 1

    OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of[malacards.org] Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died.[scienceopen.com] space between the first and second toes.[medcraveonline.com]

  • Seckel Syndrome 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] A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short[dnatesting.uchicago.edu] […] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation[centogene.com]

  • 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] Individuals have proportionately short stature, normal head circumference, typical facial features, clinodactyly (incurved fifth digit), and limb length asymmetry.[hihg.med.miami.edu] 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]

  • 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] A Short stature This may proportionate or disproportionate, or it may affect a region of the body asymmetrically.[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]

  • Weaver 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] NS features include abnormal growth (proportionate short stature and relative or absolute macrocephaly), congenital heart defects (most commonly pulmonary stenosis or hypertrophic[clincancerres.aacrjournals.org] 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]

  • Nicolaides-Baraitser 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] […] of eyelashes Unusually long eyelashes [ more ] 0000527 Narrow nasal bridge Nasal Bridge, Narrow Narrow bridge of nose Nasal bridge, thin [ more ] 0000446 Sandal gap Gap between[rarediseases.info.nih.gov] Witters I, Fryns JP: Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy.[karger.com]

  • Greenberg Dysplasia

    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] Most individuals with disproportionate short stature have skeletal dysplasias, and those with proportionate short stature have endocrine, nutritional, or other genetic or[nature.com] Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU.[books.google.de]

  • Baraitser 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] Abstract We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a[ncbi.nlm.nih.gov] Abstract We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and[ncbi.nlm.nih.gov]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    short stature Progressive with age Low set ears Hypertelorism Plagiocephaly Early tooth loss Serpentine tibias and fibulas Celiac disease Idiopathic Pulmonary Hemosiderosis[quizlet.com] Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism[882m.com] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com]

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