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46 Possible Causes for Brushfield Spot, Ear Deformity, 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.[] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[] […] folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse[]

  • Smith-Magenis Syndrome

    Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[] Down syndrome and Wolfflin-Kruckmann spots in SMS), small size, small hands and feet, and hypotonia.[]

  • Craniosynostosis Type 3

    deformation plagiocephaly parallelogram configuration, anterior displacement of ear Turribrachycephaly, coronal and lamboidal cs, normal extremities bicoronal synostoses[] Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[] 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.[]

  • Acrootoocular Syndrome

    Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    External ear malformation Hypoparathyroidism Growth hormone deficiency Hypoplasia of penis Delayed myelination Bifid uvula Short foot Thin vermilion border Posteriorly rotated ears[] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[] […] 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[]

  • Congenital Non-Neoplastic Nevus

    deformities Preauricular appendages Cryptorchidism Club feet Neuroectodermal neoplasms arising in congenital nevi.[] spots Q13.2 Iris freckles Q13.2 Blue sclera Q13.5 Exophthalmos Q15.8 Strabismus Q15.8 Top of Page Ear Ear Congenital anomaly ICD-10 ( 12 ) or RCPCH code ( 34 ) Accessory[] […] hypoplasia MALIGNANCIES Rhabdomyosarcoma Liposarcoma Neuroblastoma Primitive neuroectodermal tumors Mixed malignant neoplasms MALFORMATIONS Vascular Supernumerary digits Ear[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[] Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[] While similar triad of left facial paralysis, bilateral anotia, and cardiac disease, is presented by Pearl, the congenital deformity of external ears in the present case is[]

  • Acro-Fronto-Facio-Nasal Dysostosis

    deformity and umbilical hernia.[] spots Brachydactyly Anonychia Cerebral cortical atrophy Micromelia ... ...[] Acrofrontofacionasal dysostosis I: Mental retardation, short stature, hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly[]

  • Partial Monosomy 18q

    […] with deformities Thumb anomalies Severe mental impairment. 16 Q Minus (16q-) In this disorder, part of the long (q) arm of chromosome 16 is missing.[] Will see epicanthal folds, simian crease, brushfield spots in eyes.[] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[]

  • Autosomal Dominant Mental Retardation Type 21

    Genet. 5: 52-55, 1968. [12] Rogers BO:Microtic, lop, cup and external-ear abnormalities:four directly inheritable deformities.[] ) spots overlying the iris of the eye.[] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[]

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