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638 Possible Causes for Epicanthal Folds, Muscle Hypotonia

  • 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] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] 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]

  • Williams-Beuren 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] People with this condition may also have weak muscle tone (hypotonia) and abnormal movements, such as involuntary movements of one side of the body that mirror intentional[ghr.nlm.nih.gov] Although the range and severity of symptoms may vary, PMS is generally thought to be characterized by neonatal hypotonia (low muscle tone in the newborn), normal growth, absent[rarediseases.org]

  • Pallister-Killian Syndrome

    folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org] Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features,[diseaseinfosearch.org] This disorder is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, developmental delay/intellectual disability, distinctive facial features[secure.ssa.gov]

  • Kaufman Oculocerebrofacial Syndrome

    folds * thin or bare eyebrows * flat upper lip groove...[signssymptoms.org] Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound.[ghr.nlm.nih.gov] Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).[rarediseases.oscar.ncsu.edu]

  • 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] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures.[ghr.nlm.nih.gov]

  • Dubowitz Syndrome

    Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones.[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    The common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia[ncbi.nlm.nih.gov] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] folds, and broad nasal bridge), profound hypotonia and seizures.[orpha.net]

  • Subcortical Band Heterotopia

    Additional features included epicanthal folds, hypertelorism, small nose with hypoplastic nares, bilateral syndactyly of the toes, pulmonary valve stenosis, atrial and ventricular[ncbi.nlm.nih.gov] Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems.[ghr.nlm.nih.gov] […] of the trunk Low muscle tone in trunk 0008936 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Pachygyria Fewer and broader ridges in brain 0001302 Postnatal[rarediseases.info.nih.gov]

  • Monosomy 1p36 Syndrome

    folds (50%), and posteriorly rotated, low-set, abnormal ears.[ncbi.nlm.nih.gov] Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[malacards.org] Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org]

  • Neuhauser Syndrome

    They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major, micrognathia and pectus excavatum.[ncbi.nlm.nih.gov] Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[rarediseases.org] folds, broad nasal root, frontal bossing and antimongoloid lid slanting.[disorders.eyes.arizona.edu]

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