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151 Possible Causes for Dolichocephaly, High Arched Palate, Muscle Hypotonia

  • Homocystinuria

    Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[] 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.[] Long, thin fingers, tall stature, and a high arched palate are seen in some individuals and the hair is often lightly pigmented.[]

  • 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[] Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[] The findings in Tutankhamun include: a delicate stature the significant skull form of all family members (dolichocephaly), which is also typical for HPP partially fused neck[]

  • Goldberg-Shprintzen Syndrome

    […] syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched[] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[] Furthermore, the craniofacial abnormalities, most frequently described in the SGS include dolichocephaly, low-set ears, a high prominent forehead, proptosis, hypertelorism[]

  • Acrocallosal Syndrome

    […] with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched[] Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[] Craniofacial abnormalities: Macrocephaly with dolichocephaly, frontal bossing, hypertelorism, down slanting palpebral fissure, posteriorly angulated malformed ears, short[]

  • Marfan Syndrome

    arch palate, crowded teeth RESP: emphysema, spontaneous pneumothorax, pectus excavatum, tracheomalacia, OSA, kyphoscoliosis CVS: dilated ascending aorta, dissecting aneurysms[] The two may have also had skeletal muscle hypotonia leading to their melancholic expressions.[] At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows[]

  • Sotos Syndrome

    Dental abnormalities include enamel hypoplasia, expansion of the pulp cavity, high arched palate, and absence of the bilateral pre-molar teeth of the mandible.[] Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.[] Sotos syndrome, or cerebral gigantism, is a rare genetic condition characterized by tall stature, gigantism, dolichocephaly, advanced bone age and learning disability.[]

  • Zellweger Syndrome

    Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[] […] inability to import matrix proteins Clinical Profound neurologic impairment–seizures, flaccidity, metabolic dysfunction, hyoid bone and thyroid cartilage calcification, dolichocephaly[]

  • Deletion of the Long Arm of Chromosome 18

    arched palate.[] The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[] The third patient we investigated was born premature at 32 weeks of pregnancy, birthweight 1900g, with multiple anomalies: facial dysmorphism, microcephaly, dolichocephaly[]

  • Wiedemann-Steiner Syndrome

    arched palate.[] […] tone ( hypotonia ).[] […] postnatal growth deficiency, psychomotor developmental delay, generalized hypotonia, facial dysmorphisms (round and flat face, facial asymmetry with right/left hemi-hypoplasia, dolichocephaly[]

  • Glycogen Storage Disease Type 2

    […] or prominent forehead; broad or prominent nasal bridge; micrognathia; high arched palate; hyperextensible joints; cardiac defects; and psychomotor retardation.[] […] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile[] Although each patient can present individual peculiarities, the most characteristic symptoms are muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver[]

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