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858 Possible Causes for Craniosynostosis, Muscle Hypotonia

  • Hypophosphatasia

    Craniosynostosis is accompanied by putatively functional consequences. Diagnosis must thus be early and lead to management by a specialized team.[] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[] Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[]

  • Rubinstein-Taybi Syndrome

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[]

  • Spinal Muscular Atrophy

    Herein, we report on a 4-month-old male with multiple congenital anomalies, craniosynostosis, dysmorphic features, and hypotonia.[] The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation[] muscle atrophy, and weakness.[]

  • Ehlers-Danlos Syndrome Type Progeroid

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[] Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ).[] The main differences with Marfan syndrome are the absence of long bone overgrowth and lens dislocations, and the presence of multiple other findings, including craniosynostosis[]

  • Familial Dysautonomia

    Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development 145.[] […] tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature.[] Problems related to this disorder first appear in infants who show poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections[]

  • Goldberg-Shprintzen Syndrome

    Definizione in inglese: Shprintzen-Goldberg Craniosynostosis Syndrome SGS definisce: Symantec Gateway Security Singapore Government Securities Southern Graphic Systems Space[] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[] Geneviève Sports (France) SGS Stockport Grammar School (United Kingdom) SGS Slough Grammar School SGS South Georgia and the Islands (ISO Country code) SGS Shprintzen-Goldberg Craniosynostosis[]

  • Mowat-Wilson Syndrome

    Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia.[] 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[] 2015 22 Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. ( 25899569 ) Bourchany A....Faivre L. 2015 23 "CHARGE-like presentation, craniosynostosis[]

  • Craniofrontonasal Dysplasia

    Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.[] Low or weak muscle tone 0001252 Oral cleft Cleft of the mouth 0000202 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Sandal gap[] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[]

  • Down Syndrome

    People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[] Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.[] All individuals with Down syndrome have mild to moderate learning disabilities, distinctive facial features, and low muscle tone (hypotonia) in early infancy.[]

  • Acrocallosal Syndrome

    In contrast, a 600-kb deletion 5' of IHH in the doublefoot mouse mutant (Dbf) leads to severe polydactyly without craniosynostosis, but with craniofacial dysmorphism.[] Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[] Health-related/Physical: Vision impairments (near/farsightedness, nystagmus, strabismus, problems with depth perception) Low muscle tone (hypotonia) Early feeding difficulties[]

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