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747 Possible Causes for 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

    […] 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] 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] […] 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]

  • Homocystinuria

    The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov] The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov]

  • 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 (extra fold of skin at the inner corner of the eye) Ptosis (drooping of the eyelids) Proptosis (bulging eyes) Refractive visual errors Strabismus (inward or outward[en.wikipedia.org]

  • Terminal 4q Deletion Syndrome

    Other clinical features included atrial septal defect, patent ductus arteriosus, micrognathia, cleft palate, inner epicanthal folds and long philtrum.[ashg.org] ears.[jstage.jst.go.jp] Folds Rieger Anomaly (Prominent Schwalbe Ring- Iris Adhesion To The Schwlbe Line- Iris Hypoplasia- And Glaucoma) Epicanthic Folds Mouth And Oral Structures Thin Lips Highly[neo-genetics.com]

  • Cri Du Chat Syndrome

    Among the consequent abnormalities are low birth weight, a striking catlike cry in infancy, mental retardation, epicanthal folds, hypertelorism and dental malocclusions.[ncbi.nlm.nih.gov] set ears and short IV metacarpals has not changed with advancing age.[ncbi.nlm.nih.gov] The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and[orpha.net] Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis[whonamedit.com] Facial anomalies (hypertelorism, flattened nose, micrognathia, low set ears and epicanthic folds). Head (brachycephaly with soft bones). Spine (scoliosis may occur).[fetalultrasound.com]

  • Jacobsen Syndrome

    Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures[ncbi.nlm.nih.gov] Our patient was delivered by cesarean section and exhibited skull deformities, facial asymmetry, low-set ears, inguinal hernia, flat feet, and crowded toes.[ncbi.nlm.nih.gov] Facial dysmorphism was also common and included hypertelorism, epicanthal folds, and down-slanting palpebral fissures.[ncbi.nlm.nih.gov]

  • 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] folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org]

  • Pentasomy X

    She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation[ncbi.nlm.nih.gov] (Redirected from 49, XXXXX ) Pentasomy X Synonyms 49,XXXXX, penta X, XXXXX syndrome [1] Specialty Medical genetics Symptoms Intellectual disability , short height, low-set[en.wikipedia.org] Pentasomy X Synonyms 49,XXXXX, penta X, XXXXX syndrome [1] Specialty Medical genetics Symptoms Intellectual disability , short height, low-set ears , decreased muscle tone[en.wikipedia.org]

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