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158 Possible Causes for Muscle Hypotonia, Narrow Face, Severe Constipation

  • Kaufman Oculocerebrofacial Syndrome

    Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[] Some children have severe constipation. Some infants have breathing difficulty at birth and intellectual disability is soon apparent. Most do not speak.[] Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies.[]

  • 22q11.2 Duplication Syndrome

    face.[] constipation Intestinal malrotation (twisting) Hirschsprung's disease Diaphragmatic hernia Inguinal and umbilical hernia Immune system problems Recurring ear infections,[] […] tone (hypotonia).[]

  • Sotos Syndrome

    constipation in over 10% Main Psychosocial Considerations [ edit ] Intellectual, social, and emotional maturity may evolve on widely different timetables How is school going[] Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.[] Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.[]

  • Angelman Syndrome

    Feeding problems associated with Angelman syndrome are usually not severe.[] Interestingly, this investigation found that certain typical features of mouth breathing syndrome, such as long and narrow faces, open mouth, shortened upper lip, lowered[] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[]

  • Encephalomyopathic Mitochondrial DNA Depletion Syndrome

    Patients may display variable facial dysmorphia such as a narrow elongated face, protruding malformed ears, epicanthal folds and downslanting palpebral fissures of the eyes[] constipation, gastrointestinal disorders Respiratory disorders Diabetes Increased risk of infection Seizures, neurological problems Thyroid dysfunction Dementia Exercise[] Sometime epilepsy develops. [5] In MDDS associated with mutations in RRM2B that primarily affect the brain and muscle, there is again hypotonia in the first months, symptoms[]

  • Prader-Willi Syndrome

    […] reflux, constipation, or fatty liver.[] Different from western patients, the 20 Asian patients exhibited at least five of the following typical features: prominent forehead, narrow face, almond-shaped eyes, small[] Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger[]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    face • Malar hypoplasia • Micrognathia • Retrognathia • Enophthalmos • Ectopia lentis • Myopia • Retinal detachment • Early glaucoma • Early cataracts • Down-slanting palpebral[] constipation * Intestinal blockage * Abnormal ear structure * High vaulted palate * Narrow palate * Ureteric reflux * Thin toenails * Underdeveloped toenails * Thin fingernails[] , lethargy, feeding difficulty Prader willi syndrome (Methylation) Genes: region 15q11 Chronic motor and sensory polyneuropathies, distal muscle weakness and atrophy, mild[]

  • Bangstad Syndrome

    Between diarrheal illnesses, she had severe constipation, including a partial small bowel obstruction at 1.3 years old.[] face, prominent nose, narrow face, hypoparathyodism, small brain, pancytopenia, increase in hormone levels, low birth weight, retruding lower jaw etc.[] Miller- McKusick- Malvaux- Syndrome (3M Syndrome) 0 *Dwarfism *Intellectual Disability *Muscle Hypotonia Spine/abnormalities.[]

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    constipation or blockage of the intestine.[] High, narrow palate Posteriorly rotated ears Small hand Pointed chin Decreased head circumference Sacral dimple Short chin Low-set ears Smooth philtrum Macrodontia Malar[] , severe food allergy, eczema c.511T C, c.842T C Facial gestalt Apparent hypertelorism Upslanting palpebral fissures Broad nasal bridge Broad nasal tip Short nose Tented upper[]

  • Mowat-Wilson Syndrome

    (infancy) Long face (adolescence) Prominent but narrow triangular chin Hypertelorism (wide set eyes) Deep set but large eyes Broad nasal bridge Prominent rounded nasal tip[] constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.[] Low or weak muscle tone 0001252 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Posteriorly rotated ears Ears rotated toward[]

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