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14 Possible Causes for Brushfield Spot, Flat Facial Profile, 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] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu] […] 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] 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]

  • 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] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] LH3 deficiency syndrome LH3 deficiency syndrome can manifest with a characteristic facies of shallow orbits, a small nose, down-turned mouth corners, a flat facial profile[nature.com]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[diapedia.org] facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction[aafp.org] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

  • Monosomy 21q

    Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[publications.fondationlejeune.org] […] trisomy 21. mental retardation, flat facial profile, prominent epicanthal folds (folds in the medial corner of the eye), Simian crease in the palm of the hand, intestinal[quizlet.com] The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually[rarediseases.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[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] , 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]

  • Wolf-Hirschhorn Syndrome

    spots Males with Down syndrome are generally infertile.[pathophys.org] Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial[ncbi.nlm.nih.gov] 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]

  • SHORT Syndrome

    […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[medlineplus.gov] Kids and teens with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.[kidshealth.org] […] and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.[jmgims.co.in]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    Speckled iris (Brushfield spots), refractive errors, strabismus, nystagmus, and cataract. Ears.[consultant360.com] Down syndrome 46. 02/25/15 Sid 46 Trisomy 21 • Brachycephaly • Flat facial profile • Small ears • Folded helix • Conductive hearing loss • Upslanting palpebral fissures •[slideshare.net] Short neck with loose overlying skin. Skin. Cutis marmorata, xerosis, and hyperkeratosis. Hands and feet.[consultant360.com]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    LH3 deficiency syndrome LH3 deficiency syndrome can manifest with a characteristic facies of shallow orbits, a small nose, down-turned mouth corners, a flat facial profile[nature.com] , 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] Head - Microcephaly - Brachycephaly Eyes - Upslanting palpebral fissures - Inner epicanthal folds - Speckled iris with Brushfield spots - Strabismus - Nystagmus Ears - Low-set[brainscape.com]

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