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60 Possible Causes for Muscle Hypotonia, Postnatal Macrocephaly

  • Mulibrey Nanism Syndrome

    It is characterized by pre- and postnatal growth restriction, relative macrocephaly, thin extremities and typical craniofacial features (scaphocephaly, facial triangularity[orpha.net] Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org] […] features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly.[moh-it.pure.elsevier.com]

  • Macrocephaly - Intellectual Disability - Autism Syndrome

    Subsequently, Stevenson et al. [1997: Lancet 349:1744-1745] emphasized the association of progressive postnatal macrocephaly with autism, and they suggested that this might[ncbi.nlm.nih.gov] Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.[en.wikipedia.org] […] weakness Right-sided weakness (hemiparesis) Low muscle tone (muscular hypotonia) Overactive reflexes (hyperreflexia) Peripheral neuropathy Acid reflux (gastroesophageal reflux[undiagnosed.hms.harvard.edu]

  • Macrocephaly-Developmental Delay Syndrome

    Similar to other previous reports, our patient developed macrocephaly postnatally. [10] A skin biopsy is not necessary in CMTC because the histologic findings are nonspecific[ijpd.in] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including[rasopathiesnet.org]

  • Marshall-Smith Syndrome

    Patients A–C presented a very similar phenotype consisting of postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis[ncbi.nlm.nih.gov] Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[rarediseases.org] A muscle biopsy was performed because of hypotonia and muscular weakness. Selective hypoplasia of type IIa and IIb fibers was found.[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    Additionally, six clinical features were reported in WDSTS patients for the first time, including macrocephaly in Patient 7, external ear deformity in Patients 10 and 12 ([ojrd.biomedcentral.com] […] tone ( hypotonia ).[en.wikipedia.org] Jones in 2012. [3] Signs and symptoms [ edit ] Features described in Wiedemann–Steiner syndrome include: [4] Short stature Developmental delay Low muscle tone ( hypotonia[en.wikipedia.org]

  • Tenorio Syndrome

    TCF20-related overgrowth syndrome is characterized by mild intellectual disability, postnatal tall stature and macrocephaly, obesity and muscular hypotonia and possibly autism[bredagenetics.com] […] atrophy Mitral valve prolapse Hydrocephalus Raynaud phenomenon Arrhythmia Aortic regurgitation Mask-like facies Neonatal hypotonia Cerebral cortical atrophy Cerebral palsy[mendelian.co] It is characterized by pre- and postnatal overgrowth with macrosomia, distinctive craniofacial features (macrocephaly with coarse face, macroglossia, hypertelorism, dental[orpha.net]

  • Wiedemann-Rautenstrauch Syndrome

    They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles[en.wikipedia.org] In addition, in many cases, infants and children with the disorder lack head control, exhibit diminished muscle tone (hypotonia), and have an impaired ability to coordinate[rarediseases.org] They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles,[medbox.iiab.me]

  • Weaver Syndrome

    The cardinal features are pre- and postnatal accelerated somatic growth, characteristic facial appearance (i.e., macrocephaly, prominent jaw, and a high hairline with sparse[ncbi.nlm.nih.gov] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] Low or weak muscle tone 0001252 Overlapping toe Overlapping toes Overriding toes [ more ] 0001845 Prominent fingertip pads Prominent finger pads 0001212 Radial deviation[rarediseases.info.nih.gov]

  • Lenz-Majewski Syndrome

    […] in either child, we cannotexclude an overlap with the macrocephaly-cutis marmoratasyndrome, that may also result from intrauterine abnormalvascular development and/or postnatal[dokumen.tips] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] Low or weak muscle tone 0001252 Scoliosis Abnormal curving of the spine 0002650 Submucous cleft hard palate 0000176 Percent of people who have these symptoms is not available[rarediseases.info.nih.gov]

  • Legius Syndrome

    The main features of Silver-Russell syndrome are: Severe retardation of intrauterine and postnatal growth Relative macrocephaly Small, triangular facies and prominent forehead[dermnetnz.org] Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including[rasopathiesnet.org] Legius syndrome is characterized by café-au-lait macules, axillary and inguinal freckling, macrocephaly, and lipomas.[invitae.com]

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