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296 Possible Causes for Dysmorphic Face, Epicanthal Folds

  • 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] 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] […] and fifth metacarpals and metatarsals Shield chest: The chest appears to be broad with widely spaced nipples Lymphedema Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal[emedicine.medscape.com]

  • Williams Syndrome

    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] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

  • 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] 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] In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridge epicanthic folds abundant neck skin macroglossia simian crease[radiopaedia.org]

  • 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] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org]

  • Noonan Syndrome

    ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] folds, high upper eyelid crease, and some limitation of ocular mobility most commonly of the levator.[disorders.eyes.arizona.edu] 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]

  • 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] Image: Epicanthal folds and hypertelorism in 2 year old girl with trisomy X.[reliawire.com] Additional findings include the presence of epicanthal folds, hypertelorism, pes planus, pectus excavatum, clinodactyly and mandibular defects (prognathism and retrognathism[symptoma.com]

  • Mohr Syndrome

    Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on both hands and feet, doubling[ncbi.nlm.nih.gov] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] There were some unusual findings in the facies like presence of epicanthic folds and low set ears (figure 1).[ijcasereportsandimages.com]

  • Acrocephalopolysyndactyly

    Synopsis short stature (@ obesity brachycephaly midface hypoplasia low-set ears malformed ears preauricular pits conductive hearing loss sensorineural hearing loss epicanthal[humpath.com] The inner canthi are often spaced widely apart and many have epicanthal folds and a flat nasal bridge.[disorders.eyes.arizona.edu] Common differences of the facial region includes epicanthal folds ("oriental" looking eyelids), broad cheeks, low set, uneven and malformed ears, flat nasal bridge, small[apc5anatomia.fullblog.com.ar]

  • Klinefelter Syndrome

    folds, broad nasal bridge, low-set and malformed ears and prognathism Cardiac defects, usually patent ductus arteriosus, are present in 15-20% of cases Males have short stature[en.wikibooks.org] folds, simple ears and mild prognathism Stature is tall and there may be skeletal abnormalities including: o clinodactyly o elbow abnormalities o radioulnar synostosis Mild[web.archive.org] […] small 48,XXXY (3 X chromosomes) Results from the addition of an extra X to a 47,XXY karyotype A more abnormal phenotype including facial anomalies such as hypertelorism, epicanthic[en.wikibooks.org]

  • Fetal Alcohol Syndrome

    folds, a small or flat midface, a flat elongated philtrum, a thin upper lip, and a small chin.[msdmanuals.com] folds thin upper lip with smooth groove developmental delay microcephaly micrognathia decreased muscle tone Differential Other teratogen exposure Intrauterine trauma Cerebral[orthobullets.com] […] with fetal alcohol syndrome (FAS) can be identified by small stature and a typical set of facial traits including microcephaly, microphthalmia, short palpebral fissures, epicanthal[msdmanuals.com]

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