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59 Possible Causes for Brushfield Spot, Short Broad Feet, Short Stature

  • Down Syndrome

    stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] 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] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info]

  • Oculopalatoskeletal Syndrome

    Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature.[ghr.nlm.nih.gov] 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]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.[mendelian.co] 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]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] ) spots overlying the iris of the eye.[diapedia.org] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org]

  • Acrootoocular Syndrome

    […] foot ; Short metacarpal ; Short phalanx of finger ; Short stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms, disease associated[mousephenotype.org] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net]

  • Partial Monosomy 18q

    Recent research has uncovered potential treatment for short stature and dysmyelination caused by 18q-.[en.wikibooks.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[cags.org.ae]

  • Drayer Syndrome

    […] conditions related to Chromosome 15q26-qter deletion syndrome may include: Blepharophimosis Microcephaly Brachydactyly Talipes equinovarus Micropenis Nervous System Disorders Short[familydiagnosis.com] Spots) • Varying Degrees of Mental and Growth Retardation • Dysplasia of the Pelvis • Short Broad Hands, Hypoplasia of Middle Phalanx of 5 Th Finger, Simian Crease • High[quizlet.com] […] stature Head And Neck Eyes: strabismus blepharophimosis Skeletal Feet: talipes equinovarus brachydactyly absence or hypoplastic middle phalanges Head And Neck Nose: broad[malacards.org]

  • SHORT Syndrome

    Hyperphagic short stature is associated with learning disabilities.[patient.info] […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[medlineplus.gov] […] and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.[jmgims.co.in]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[malacards.org] 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]

  • Chromosome 18p Deletion Syndrome

    […] by a deletion of the short arm (the p arm) of chromosome 18; typical features include: mental retardation, short stature & short thumbs. 18q- occurs in about 1 of every 40,000[handresearch.com] spots Skin dimples 23 Cervical rib Broad nasal bridge 23 Extra rib Simian crease 23 Stubby fingers Abnormal placement of 2nd toe 21 hypertelorism Strabismus 20 Cataracts[labmed.hallym.ac.kr] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[cags.org.ae]

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