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530 Possible Causes for Dysmorphic Face, Low Set Ears

  • Trisomy 18

    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] […] weight Low-set ears Mental deficiency Separation between the left and right side of the rectus abdominis muscle ( diastasis recti ) Small head ( microcephaly ) Small jaw[web.archive.org]

  • Smith-Magenis Syndrome

    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] Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set[link.springer.com]

  • Turner Syndrome

    Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[nichd.nih.gov] […] posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more[rarediseases.info.nih.gov] […] proximal tibial epiphyses Irregular innermost shankbone end part Irregular innermost shinbone end part [ more ] 0006456 Kyphosis Hunched back Round back [ more ] 0002808 Low[rarediseases.info.nih.gov]

  • Down Syndrome

    […] 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] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate). High arched palate. Neck: Loose skin on nape of neck.[patient.info]

  • Noonan Syndrome

    . - 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] Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.[care.com] Children may have webbing of the neck, low-set ears, droopy eyelids, widely spaced eyes, shortened fourth (ring) fingers, a high-arched palate, and heart and blood vessel[merckmanuals.com]

  • Trisomy 9

    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] The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short[ncbi.nlm.nih.gov]

  • Patau Syndrome

    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] Cutis aplasia (missing portion of the skin/hair) Prominent heel Microcephaly Low-set ears Cleft palate or hare lip Collection Procedure • Amniotic fluid Discard the first[cytogenx.com]

  • Donohue Syndrome

    The patient showed typical "elfin-like" face with wide nostrils and thick lips, large and low-set ears, and dysplastic nails.[ncbi.nlm.nih.gov] At birth, the infant was noted to have dysmorphic features, such as a small face with prominent eyes and thick lips, large, pointed ears, depressed nasal bridge, wide nostrils[hmg.oxfordjournals.org] […] a 5 day old neonate with refractory hyperglycemia and paradoxical hypoglycemia, severe intrauterine growth retardation, typical 'elfin' facies (hypertrichosis, large and low-set[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] English Add a one-line explanation of what this file represents Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set[commons.wikimedia.org]

  • Saethre-Chotzen Syndrome

    Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] The patient described in this report displayed craniofacial features classic for Saethre–Chotzen syndrome, including craniosynostosis, low-set ears, small pinna with prominent[ncbi.nlm.nih.gov]

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