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514 Possible Causes for High Arched Palate, Low Set Ears, Muscle Hypotonia

  • Homocystinuria

    The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov] 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]

  • Rubinstein-Taybi Syndrome

    […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] (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]

  • 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]

  • Pallister-Killian Syndrome

    These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[ncbi.nlm.nih.gov] 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]

  • Velocardiofacial Syndrome

    Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them.[ncbi.nlm.nih.gov] Distinct physical features sometimes associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference[rarediseases.org] These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or[mayoclinic.org]

  • Hypophosphatasia

    […] to thrive short, bowed extremities, generalised hypotonia, a small funnel chest, soft calvaria, very large fontanel, extremely wide cranial sutures, high-arched palate, low-set[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

    ears Low set ears Lowset ears [ more ] 0000369 Motor delay 0001270 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Narrow mouth Small mouth 0000160 Neonatal[rarediseases.info.nih.gov] […] 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]

  • 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] […] protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set[rarediseases.org]

  • Wiedemann-Steiner Syndrome

    Diseases related with Low-set ears and Gait disturbance In the following list you will find some of the most common rare diseases related to Low-set ears and Gait disturbance[mendelian.co] arched palate.[wiedemannsteiner.com] […] tone ( hypotonia ).[en.wikipedia.org]

  • Acrocallosal Syndrome

    […] acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set[ncbi.nlm.nih.gov] […] 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]

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