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682 Possible Causes for High Arched Palate, Muscle Hypotonia

  • Homocystinuria

    Long, thin fingers, tall stature, and a high arched palate are seen in some individuals and the hair is often lightly pigmented.[disorders.eyes.arizona.edu] 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] , arched palate with crowding of the teeth Kyphoscoliosis Ectopic lentis (dislocation of the lens) Myopia Glaucoma Mental retardation (with an average IQ of 80, although approximately[dermnetnz.org]

  • Rubinstein-Taybi Syndrome

    (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched[ncbi.nlm.nih.gov] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

  • Pallister-Killian Syndrome

    Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported[ncbi.nlm.nih.gov] 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]

  • Down Syndrome

    […] characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set ears, small nose, depressed nasal bridge, protruding tongue, high-arched[symptoma.com] People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[genome.gov] Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.[ghr.nlm.nih.gov]

  • Chromosome 6q11-q14 Deletion Syndrome

    […] anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched[malacards.org] Hypotonia Nervous System Seizures Respiratory System Tracheo-Esophageal Fistula Gastrointestinal System Intestinal Malformations Synonyms: 6Q- Syndrome 6Q Deletion Syndrome[neo-genetics.com] palate (summary by Wang et al., 2009).[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    Macrocephaly or microcephaly, a high-arched palate, protruding tongue or micrognathia, and redundant neck skin folds may be present.[ela-asso.com] 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] arched palate absent deep tendon reflexes seizures deafness enlarged liver (hepatomegaly) enlarged spleen gastrointestinal bleeding slow growth after birth severe mental[encyclopedia.com]

  • Hypophosphatasia

    […] short stature, failure to thrive short, bowed extremities, generalised hypotonia, a small funnel chest, soft calvaria, very large fontanel, extremely wide cranial sutures, high-arched[bone-abstracts.org] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[decisionsindentistry.com] Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    […] or other health indicators, associated with mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched[wellnessadvocate.com] Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies.[reference.md] Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).[rarediseases.oscar.ncsu.edu]

  • Prader-Willi Syndrome

    She also presented with features not typically seen in PWS such as preauricular ear tags, a high-arched palate, edematous feet, coarctation of the aorta, a PDA, and a bicuspid[ncbi.nlm.nih.gov] 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[rarediseases.about.com] (hypotonia) learning difficulties lack of sexual development behavioural problems, such as temper tantrums or stubbornness Read more about symptoms of Prader-Willi syndrome[nhs.uk]

  • Monosomy 1p36 Syndrome

    The dysmorphic features of the proband included microcephaly, straight eyebrows, deep-set eyes, hypertelorism, asymmetric and low-set ears, a high-arched palate, clinodactyly[enlivenarchive.org] 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]

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