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261 Possible Causes for Dysmorphic Face, Epicanthal Folds, Low Set Ears

  • Turner Syndrome

    Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears,[britannica.com] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[nichd.nih.gov] folds can be present; red-green color blindness Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis[emedicine.medscape.com]

  • Down Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down, Down's, trisomy[merriam-webster.com] […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] In 1876 he specifically identified the fold of skin at the inner corner of the eyes which he described as epicanthic folds and he also noted that the ear was usually placed[intellectualdisability.info]

  • Noonan Syndrome

    ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[medicowesome.com] folds, high upper eyelid crease, and some limitation of ocular mobility most commonly of the levator.[disorders.eyes.arizona.edu]

  • Pallister-Killian Syndrome

    Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds and a flat[en.wikipedia.org] These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[ncbi.nlm.nih.gov] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net]

  • Trisomy 18

    folds low set malformed ears ceft lip/palate eye abnormalites (10%) limb anomalies clenched hand: clenched fists with the index finger overlapping the 3rd and 4th fingers[humpath.com] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[ncbi.nlm.nih.gov] Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly[web.archive.org]

  • Trisomy 9

    The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips[ncbi.nlm.nih.gov] Abstract A patient with partial trisomy 9 (47,XX, 9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears[ncbi.nlm.nih.gov] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov]

  • Williams Syndrome

    Noonan syndrome is a single gene disorder often presenting with hypertelorism, blue irides, low-set ears with thickened helices, a webbed neck, pulmonic stenosis or, less[clinicaladvisor.com] folds ) Partially missing teeth, defective tooth enamel, or small, widely spaced teeth Exams and Tests Signs include: Blood vessel narrowing including supravalvular aortic[web.archive.org] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    folds, broad nasal bridge, downturned mouth with cupid's bow, ear anomalies, and relative prognathism, and ocular abnormalities); short stature; brachydactyly; a hoarse,[priory.com] ears, and brachydactyly.[link.springer.com] Facial dysmorphisms include broad and square-shaped face, mild face hypoplasia, brachicephaly, short nasal philtrum, a tendency toward an everted upper lip, and relative prognathism[intechopen.com]

  • Patau Syndrome

    […] over the inner corners of the eyes (epicanthal folds); and/or other ocular defects.[rarediseases.org] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small[webmd.com]

  • Trisomy X Syndrome

    The common physical features of females with triple-X syndrome are having a tall stature, epicanthic folds, and poor muscle tone.[biology-online.org] Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw and a rounded face.[igeneprenataltest.com] Image: Epicanthal folds and hypertelorism in 2 year old girl with trisomy X.[reliawire.com]

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