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223 Possible Causes for Dysmorphic Face, Ear Deformity, Low Set Ears

  • Turner Syndrome

    Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[nichd.nih.gov]

  • Trisomy 18

    […] as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[britannica.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]

  • 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] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com]

  • Seckel Syndrome

    ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.[ncbi.nlm.nih.gov] […] the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set[ncbi.nlm.nih.gov] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Mandibulofacial Dysostosis

    These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[ncbi.nlm.nih.gov] An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[medlineplus.gov] Patients have facial dysmorphism including mid-face hypoplasia, micrognathia and characteristic external ear malformation with small, simple, protuberant ears.[exeterlaboratory.com]

  • Patau Syndrome

    This includes scalp defects, coloboma, hypertelorism, cleft lip, cleft palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture[whonamedit.com] 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]

  • Noonan Syndrome

    Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.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] The neck is usually webbed (pterygium colli) and the ears low-set. The sternum may be deformed.[disorders.eyes.arizona.edu]

  • Trisomy 9

    […] dysplastische) ears a inverting of the edges of lid outward sloping eyelid axles (the outside eyelid angles lay more deeply than the internal eyelid angles) sinking the eyeball[wikipedia.qwika.com] 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]

  • 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] Note the bowing of the tibiae, valgus deformities of the ankles, and pes planus. Also note the muscle hypertrophy and mild chest deformity.[commons.wikimedia.org] 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]

  • Saethre-Chotzen Syndrome

    Jaw deformities such as a receding upper jaw or a protruding lower jaw Cleft palate (opening in the roof of the mouth) Partially fused or webbed, or unusually short fingers[childrensnational.org] 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]

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