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51 Possible Causes for Epicanthal Folds, Postural Defect

  • 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]

  • Noonan Syndrome

    ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[mayomedicallaboratories.com] There may be ptosis, epicanthic folds and low-set ears. Facial features are easiest to recognise in the infant or young child.[patient.info]

  • 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] Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG.[scholars.northwestern.edu] Other physical traits include the following: Small head Ear abnormalities Widely spaced eyes with upward slanting palpebral fissures and epicanthal folds Short neck Broad[en.wikipedia.org]

  • 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] Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[fetalultrasound.com] […] covering the inner corner of the eyes ( epicanthal folds ), a small jaw, and low-set ears.[ghr.nlm.nih.gov]

  • Strabismus

    Young children often have a wide, flat nasal bridge and a fold of skin at the inner eyelid (epicanthal fold) that tends to hide the white sclera of the eye when looking in[umkelloggeye.org] Incomitant factors may be rotational defects (weaknesses or restrictions), A-V patterns or an abnormal head posture.[ijo.in] folds that obscure much of the white sclera nasally when looking laterally.[merckmanuals.com]

  • Infantile Refsum Disease

    Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle.[ncbi.nlm.nih.gov] Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] The ears are low-set and epicanthal folds are present. The teeth are abnormally large and often have yellowish discoloration.[disorders.eyes.arizona.edu]

  • Cutis Laxa

    Face revealed an antimongoloid slant, slightly everted nostril, prominent ears, epicanthic folds. The joints were normal.[slideshare.net] Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] There was palpebral down slant, bilateral epicanthal folds, blue sclera, flat nasal bridge, sagging cheeks and prominent ears.[e-ijd.org]

  • Vertical Heterotropia

    Prominent epicanthal folds commonly confuse laymen... ‎[books.google.de] Symptoms due to defective postural sensations: These causes – Problem in judging distances and positions, especially of objects in motion.[aimu.us] Symptoms due to defective postural sensations: These causes - Problem in judging distances and positions, especially of objects in motion.[nhp.gov.in]

  • Primary Optic Atrophy

    Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported.[disorders.eyes.arizona.edu] Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Acroosteolysis Dominant Type

    folds, flat nasal bridge, bushy eyebrows, down-slanted palpebrae, malar hypoplasia, relative prognathism, low-set and posteriorly rotated ears, and loss of teeth), coarse[jocr.co.in] There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[genome.jp] […] point of interest, the following additional manifestations of the HCS were also observed in the patient: Coarse dysmorphic facial features (depression in the coronal region, epicanthic[jocr.co.in]

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