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12 Possible Causes for Cafe-Au-Lait Spots, Mental Retardation, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.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] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Seckel Syndrome Type 2

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?[rarediseases.org] The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development[journals.sagepub.com]

  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.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] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.org]

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.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] 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]

  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.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] […] death at 2.5 years old due to pulmonary bleeding46,XX,r(11)(p15q25)/45,XX; ring instability; clinical features of JS; and karyotype of parents unavailable (3) Neonatal/F– Cafe[edmcasereports.com]

  • Short Stature due to Endocrine Disorder

    […] lower jaw Small jaw Small lower jaw [ more ] 0000347 Neonatal hyperbilirubinemia 0003265 Osteoporosis 0000939 Small placenta 0006266 5%-29% of people have these symptoms Cafe-au-lait[rarediseases.info.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] , sensorineural deafness and mental retardation.[genecards.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Burkholderia Infections Burkitt Lymphoma Burning Mouth Syndrome Burns Burns, Chemical Burns, Electric Burns, Inhalation Bursitis Byssinosis Cachexia Cadaver Cadmium Poisoning Cafe-au-Lait[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] […] retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.[mendelian.co]

  • Baraitser Syndrome

    Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info] 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]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    au lait spots Precocious puberty (girls) Osler-Weber-Rendu syndrome Hereditary hemorrhagic telangiectasia -Autosomal dominant -fibrovascular dysplasia with development of[quizlet.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] Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism[882m.com]

  • Macrocephaly-Developmental Delay Syndrome

    au lait spots, syndactyly, polydactyly and clinodactyly - Normal IQ - primary hypogonadism Issue is INCREASED CANCER RISK, esp lymphoma, leukaemia, carcinomas and Wilm's[quizlet.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.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]

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