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924 Possible Causes for Brushfield Spot, Protrusion of Tongue, 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] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] The hypoglossal nerve stimulator is an implantable device that produces an electrical impulse to the anterior branches of the hypoglossal nerve, resulting in tongue protrusion[ncbi.nlm.nih.gov]

  • Oculopalatoskeletal Syndrome

    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] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[clinicalgate.com]

    Missing: Protrusion of Tongue
  • Zellweger Syndrome

    We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Abnormality of coagulation Abnormal blood clotting 0001928 Abnormality of the tongue[rarediseases.info.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

    Missing: Short Broad Feet
  • 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] […] thrust - forceful protrusion of the tongue, often in response to an oral stimulus Triceps skinfold measure - measurement of the skin and subcutaneous fat layer around the[depts.washington.edu]

  • 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[jmg.bmj.com] Oral sensorimotor dysfunction, in which affected individuals have difficulties controlling the lips, tongue and jaw muscles, may also develop and can cause tongue protrusion[rarediseases.org] , and jaw muscle movements often resulting in tongue protrusion.[symptoma.com]

  • Congenital Macroglossia

    Maxillary hypoplasia Prognathism Short philtrum Skeletal Short tubular bones: Hands & Feet Short stature Joints: Decreased mobility Ribs: 11; Broad Calvarium: Thickened Epiphyses[neuromuscular.wustl.edu] The most important sign of macroglossia is tongue protrusion through the lips.[moh-it.pure.elsevier.com] A CT scan of the oral cavity revealed a markedly enlarged tongue involving at least the anterior 2/3 with outward protrusion.[apamedcentral.org]

    Missing: Brushfield Spot
  • Aarskog-Scott Syndrome

    Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes[ncbi.nlm.nih.gov] Skeletal System Disproportionate short stature Broad, short hands and feet Short, stubby fingers (brachydactyly) Clinodactyly – Permanent fixation of the fifth fingers in[medcaretips.com]

    Missing: Brushfield Spot Protrusion of Tongue
  • Infantile Choroidocerebral Calcification Syndrome

    Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] ) beneath the tongue, a condition that sometimes interferes with protrusion of the tongue.[britannica.com] When Quasthoff was born, he was severely disabled, the result of his mother’s having taken…… Tongue-tie Tongue-tie, congenital shortening of the flap of mucous membrane (frenum[britannica.com]

    Missing: Short Broad Feet
  • 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] 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] Saethre–Chotzen syndrome : short or broad head. the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers may be abnormally short and webbed[en.wikipedia.org]

    Missing: Protrusion of Tongue
  • Simpson Dysmorphia Syndrome

    […] in a physiognomy fancifully likened to that of a bulldog, and broad short hands and feet, occasionally with polydactyly, and other defects including pectus excavatum, ventricular[medical-dictionary.thefreedictionary.com] protrusion / proeminent / hypertrophic - Macrostomia / big mouth - Multicystic kidney / renal dysplasia - Postaxial polydactyly (hand) - Prognathism / prognathia - Short[csbg.cnb.csic.es] They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly .[wikidoc.org]

    Missing: Brushfield Spot

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