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53 Possible Causes for Brushfield Spot, Short Broad Feet, Skeletal Dysplasia

  • Down Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com]

  • Oculopalatoskeletal Syndrome

    Oculo cerebro acral syndrome Oculo cerebro osseous syndrome Oculo dento digital dysplasia Oculo digital syndrome Oculo facio cardio dental syndrome Oculo skeletal renal syndrome[wikidoc.org] spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] She had low set ears, broad hands, short fingers, and short broad feet [Figure 3] a-c. Figure 3: The features of Michels syndrome.[ijo.in]

  • Dappled Diaphyseal Dysplasia

    Delineation of Skeletal Dysplasias The discovery of new skeletal dysplasias has been an ongoing process since the 1940s.[musculoskeletalkey.com] spots, and shallow supraorbitalridgesf) Club foot deformityg) The affected infants usually die early ininfancy.h) Involvement of other organ systems, espe-cially the brain[dokument.tips] Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape.[mendelian.co]

  • Wolf-Hirschhorn Syndrome

    Dysplasia Society , Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] spots Males with Down syndrome are generally infertile .[pathophys.org] Prominent forehead, wideset eyes, and broad beaked nose. Very short stature, facial deformities, malformations of hands and feet, chest, and spine. Heart defects.[medigoo.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Schimke immuno-osseous dysplasia (MIM 242900) includes short trunk skeletal dysplasia, glomerulonephritis with immune complex formation, and a defect of T cell maturation.[jmg.bmj.com] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[flashcardmachine.com] […] nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait spots, microcephaly, growth delay, speech delay[chr7.org]

  • Acro-Fronto-Facio-Nasal Dysostosis

    (DO) acromelic frontonasal dysostosis Agenesis of Cervical Vertebrae brachydactyly Branchial Arch Syndrome X-Linked Camptodactyly Joint Contractures and Facial Skeletal Dysplasia[rgd.mcw.edu] Acrofrontofacionasal dysostosis I: Mental retardation, short stature, hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly[accessanesthesiology.mhmedical.com] spots Brachydactyly Anonychia Cerebral cortical atrophy Micromelia ... ...[familydiagnosis.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    dysplasia Neck webbing Noonan syndrome-like disorder with loose anagen hair Noonan's syndrome Oliver McFarlane syndrome Osteodysplastic primordial dwarfism Osteodysplastic[icdlist.com] The hands are typically short and broad and often have a single transverse palmar crease.[merckmanuals.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    Definition A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases.[uniprot.org] spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] Short limbs with acrodysostosis. Epiphyses are cone shaped. Short, broad hands, feet, fingers, and toes. Short metatarsals. GI/GU : Rare renal anomalies. Cryptorchidism.[aneskey.com]

  • Acrootoocular Syndrome

    dysplasia Nager syndrome Oculocerebrofacial syndrome Kaufman type Oculodento-osseous dysplasia Oculo-palato-digital syndrome Okamoto syndrome Ophthalmomandibulomelic dysplasia[icdlist.com] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,...[centogene.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[chr7.org]

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