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40 Possible Causes for Brushfield Spot, Hyperextensible Joints, Short Broad Feet

  • Down Syndrome

    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] hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart defects Complications of Down syndrome can involve[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]

  • SHORT Syndrome

    […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[medlineplus.gov] The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short stature, Hyperextensible joints, Ocular depression, Rieger[ncbi.nlm.nih.gov] […] and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.[jmgims.co.in]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    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] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com] joints, which may result in delayed developmental milestones such as sitting and walking Unique personality traits: overly friendly (lack of “stranger danger”), attention[my.clevelandclinic.org] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Craniosynostosis Type 3

    Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] Joint hyperextensibility, abnormally shaped vertebrae, pectus carinatum, enamel hypoplasia with hypocalcification of the teeth, and multiple nodular liver tumors are additional[rrnursingschool.biz] They have black to dark brown skin, broad short noses, wooly black hair, and dark irises. Adult males are less than 5 feet tall and females are shorter still.[internetlooks.com]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[diapedia.org] Associates anomalies : Commonly associated with the following: Ehlers-Danlos syndrome : Unusual facies, lop ears, hyperextensible joints, hip dislocation, inguinal hernia[sonoworld.com] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

  • Acro-Fronto-Facio-Nasal Dysostosis

    spots Brachydactyly Anonychia Cerebral cortical atrophy Micromelia ... ...[familydiagnosis.com] joints; bilateral 5th finger clinodactyly Multiple circumferential skin folds (Michelin baby) Autosomal dominant; heterogeneous condition.[en.wikibooks.org] Acrofrontofacionasal dysostosis I: Mental retardation, short stature, hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly[accessanesthesiology.mhmedical.com]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    Head - Microcephaly - Brachycephaly Eyes - Upslanting palpebral fissures - Inner epicanthal folds - Speckled iris with Brushfield spots - Strabismus - Nystagmus Ears - Low-set[brainscape.com] joints, and wide metaphyses.[iofbonehealth.org] , small tongue, short upper limbs, postaxial polydactyly of the left lower limb, deformed feet (turned outward) brain malformation: microencephaly, partial corpus callosum[atlases.muni.cz]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] , C de novo [possibly, 7] flattened nasal bridge, epicanthic folds, micrognathia, low-set ears, midline cleft palate, hyperextensible joints, bilateral hip dislocation, bilateral[chr7.org] , small tongue, short upper limbs, postaxial polydactyly of the left lower limb, deformed feet (turned outward) brain malformation: microencephaly, partial corpus callosum[atlases.muni.cz]

  • Acrootoocular Syndrome

    spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] Some patients also have hyperextensibility of joints. Cerebellar involvement is common and revealed by neuro-imaging.[entokey.com] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net]

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