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664 Possible Causes for Craniosynostosis, Muscle Hypotonia

  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] 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] Complete trisomy 21 syndrome edit Language Label Description Also known as English Down syndrome chromosomal disease characterized by flat-looking facial features and weak muscle[wikidata.org]

  • Hypophosphatasia

    Craniosynostosis is accompanied by putatively functional consequences.[ncbi.nlm.nih.gov] 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] These infants have a history of poor feeding and failure to thrive, developmental delays, and muscle weakness. Hypotonia has also been reported.[emedicine.medscape.com]

  • 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[ctgt.net] 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]

  • Craniofrontonasal Dysplasia

    Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.[ncbi.nlm.nih.gov] Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.org] 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[rarediseases.info.nih.gov]

  • Goldberg-Shprintzen Syndrome

    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[acronyms.thefreedictionary.com] 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] Cohen MM Jr (1990) Marfanoid features and craniosynostosis (including Shprintzen-Goldberg syndrome).[link.springer.com]

  • Cerebellotrigeminal Dermal Dysplasia

    Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[orpha.net] Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[en.wikipedia.org] Characteristics: - In PT since 4 months old - Severely delayed milestones (rolled at 10 months, crawled at 14 months, stood at 18 months, walked at 20 months) - Ataxia - Hypotonia[rhombencephalosynapsis.blogspot.com]

  • Mowat-Wilson Syndrome

    Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia.[ncbi.nlm.nih.gov] 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[rarediseases.info.nih.gov] 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[malacards.org]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] A “new” clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[dx.doi.org]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities.[findzebra.com] Phenotype Kidney stone, nephrocalcinosis, rickets/osteomalacia, growth retardation, frontal bossing, increased fractures, bone pain, hypotonia, muscle weakness, difficulty[iofbonehealth.org] If untreated, they tend to worsen with time.Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis[icdlist.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M

    , 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[ctgt.net] Fukuyama congenital muscular dystrophy is a more severe disorder characterized by brain malformations, hypotonia and muscle weakness.[sema4genomics.com] Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe[natera.com]

Further symptoms

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