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51 Possible Causes for Brushfield Spot, Craniosynostosis, Short Broad Feet

  • Oculopalatoskeletal Syndrome

    Definition A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal[uniprot.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]

  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] 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]

  • Craniosynostosis Type 3

    Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances.[aafp.org] 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] 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]

  • Smith-Magenis Syndrome

    Gorlin, Craniosynostosis update 1987, American Journal of Medical Genetics, 31, S4, (99-148), (2005).[dx.doi.org] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[jmg.bmj.com] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[jmg.bmj.com]

  • Hypertelorism

    In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.[ncbi.nlm.nih.gov] […] and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum.[ncbi.nlm.nih.gov] Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space[dontforgetthebubbles.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Further evidence that extra copy of MSX2 gene leads to craniosynostosis.[bmcmedgenet.biomedcentral.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] 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]

  • Acrootoocular Syndrome

    Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] […] 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] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Dappled Diaphyseal Dysplasia

    Nigricans AD Jackson-Weiss syndrome AD Saethre-Chotzen syndrome AD Craniosynostosis Muenke Type AD Craniosynostosis Boston Type AD Craniosynostosis Adelaide Type AD Craniosynostosis[gamuts.isradiology.org] Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape.[mendelian.co] 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]

  • Acro-Fronto-Facio-Nasal Dysostosis

    Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic[wwww.unboundmedicine.com] spots Brachydactyly Anonychia Cerebral cortical atrophy Micromelia ... ...[familydiagnosis.com] Acrofrontofacionasal dysostosis I: Mental retardation, short stature, hypertelorism with eye anomalies, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly[accessanesthesiology.mhmedical.com]

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