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497 Possible Causes for High Arched Palate, Muscle Hypotonia

  • 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]

  • 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] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[patient.co.uk]

  • 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

    Mouth: Protruding tongue (small narrow palate). High arched palate. Neck: Loose skin on nape of neck. Hands: Single palmar crease. Short little finger.[patient.info] 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] […] 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]

  • 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]

  • Kaufman Oculocerebrofacial Syndrome

    Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[orpha.net] 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]

  • Goldberg-Shprintzen Syndrome

    […] syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched[en.wikipedia.org] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[medicinman.cz] She had microcephaly, hypertelorism, broad nasal bridge, high-arched palate, thick eyebrows, and an IQ of 25. CT showed frontal and temporal lobe atrophy.[pediatricneurologybriefs.com]

  • Cap Myopathy

    They presented generalized hypotrophy and mild muscle weakness, elongated face, high arched palate, micrognathia, scoliosis and respiratory involvement.[ncbi.nlm.nih.gov] People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face[malacards.org] His first symptom was foot drop at the age of three, followed by distal muscle atrophy, slight hypomimia, high-arched palate, and weakness of the neck and elbow flexors, hands[researchportal.helsinki.fi]

  • Acrocallosal Syndrome

    […] with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched[ncbi.nlm.nih.gov] Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[diseaseinfosearch.org] Decreased muscle tone Low muscle tone [ more ] 0001290 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplasia of teeth 0000685 Intellectual disability[rarediseases.info.nih.gov]

  • Antenatal Onset Minicore Myopathy with Arthrogryposis

    Causes - Minicore myopathy- antenatal onset- with arthrogryposis Other Possible Causes of these Symptoms * Delayed motor development * High arched palate * Long head * Low[checkorphan.org] LIMBS:  Decreased muscle bulk (Egs:- SMA, Undernutrition.)  Fasciculation (SMA)  Confirm hypotoniamuscles appear flabby  Decreased resistance to passive movements of[dnbpediatrics.com] Examination showed long facies and high arched palate.[bioline.org.br]

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