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1,677 Possible Causes for Cafe-Au-Lait Spots, Cognitive Developmental Delay, 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] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[rarediseases.info.nih.gov]

  • 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] Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.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]

  • 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] 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] 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]

  • Waisman Syndrome

    Neurofibromatosis 1 and Cafe-au-Lait Spots [ RD Sheth ] - eMedicine Neurofibromatosis Type 1, NF1 (von Recklinghausen Disease) - OMIM NF2 Crew The Neurofibromatosis Webring[facmed.unam.mx] delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] […] phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language[onlinelibrary.wiley.com]

    Missing: Wide Space Between the First and Second Toe
  • Helsmoortel-van der Aa Syndrome

    Generalized lentiginosis is characteristic but they may not be present until age 4 or 5 years following the appearance of cafe-au-lait spots.[disorders.eyes.arizona.edu] To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] , behavioral problems, or developmental delay.[eyewiki.aao.org]

    Missing: Wide Space Between the First and Second Toe
  • Costello Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[care.com] Hypotonia and developmental delay are typical in infancy, and mental retardation can be diagnosed in older patients.[ncbi.nlm.nih.gov] […] lentigo in LEOPARD syndrome, increased risk of malignancy in Costello syndrome, dry hyperkeratotic skin in patients with cardio-facio-cutaneous syndrome, and neurofibromas and cafe-au-lait[cancerindex.org]

    Missing: Wide Space Between the First and Second Toe
  • Waardenburg Syndrome Type 2E

    Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait[familydiagnosis.com] Classification developmental, genetic, otorhinolaryngological, skin Phenotypes Anosmia ; Aplasia of the semicircular canal ; Autosomal dominant inheritance ; Blue irides ; Cafe-au-lait[mousephenotype.org] […] neurologic abnormalities Mental retardation Increased muscle tone Skeletal Skull Bilateral temporal bone abnormalities Skin Nails Hair Skin Hypopigmented skin patches Freckles Cafe-au-lait[mnglabs.com]

    Missing: Wide Space Between the First and Second Toe
  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] : Developmental delay Learning disabilities- hyperactivity and/or speech problems occur in 50% Mental retardation (8% of patients) Other-occasional: Syndactyly Glaucoma Ptosis[en.wikibooks.org] Patients should be monitored at every clinic visit for growth and developmental delays, precocious puberty, hypertension, scoliosis and other bony abnormalities, and cognitive[now.aapmr.org]

    Missing: Wide Space Between the First and Second Toe
  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] […] pediatrician: Evaluates cognitive delay and behavior abnormalities (individuals with WAGR) Ophthalmologist: Manages aniridia (individuals with WAGR) Regular check-ups Children[chop.edu] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[medic8.com]

    Missing: Wide Space Between the First and Second Toe
  • McCune-Albright Syndrome

    McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[ncbi.nlm.nih.gov] […] as speech apraxia, and global developmental delay [ 6 ].[jmedicalcasereports.com] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. philippe.chanson@bct.aphp.fr Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

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