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12 Possible Causes for Alopecia, Cognitive Developmental Delay, 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] Affected individuals displayed telangiectases, alopecia, and other malignancies such as nonmelanoma skin cancer, and less commonly breast cancer and cervical cancer.[preventiongenetics.com] […] ichthyosis 金 慶彰 5 2 ichthyosis-cheek-eyebrow syndrome 金 慶彰 7 3 ichthyosis-coloboma-heart defect-deafness-mental retardation 金 慶彰 8 4 IFAP syndrome(ichthyosis follicularis, alopecia[nippon-rinsho.co.jp]

  • 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] […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[checkrare.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]

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[ncbi.nlm.nih.gov] […] 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]

  • 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] […] androgenic alopecia, see androgenetic alopecia ANE1, see acute necrotizing encephalopathy type 1 Anemia, Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia[mygenomics.com] 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]

  • 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] […] mutations in ATPase H transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia[ncbi.nlm.nih.gov] Despite delays in developmental milestones and language, affected children are said to be cheerful and outgoing. Neurologic findings Cognitive.[ncbi.nlm.nih.gov]

  • 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] […] impairment No Ring chromosome 4 Mental developmental delay, deafness, short stature, obesity and the onset of type 2 diabetes in adolescence No Ring chromosome 11 Ocular[raredr.com]

  • 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]

  • 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] Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com] Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.org]

  • Trisomy 10p

    spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] […] celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia[ncbi.nlm.nih.gov] The last physical examinationwas at 12months of age and a global developmental delay was established.[docslide.fr]

  • 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] […] universalis; 203655; HR Alopecia, neurologic defects, and endocrinopathy syndrome; 612079; RBM28 Alpers syndrome; 203700; POLG Alpha/beta T-cell lymphopenia with gamma/delta[howlingpixel.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]

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