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417 Possible Causes for Muscle Hypotonia, Retinal Degeneration, Round Face

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[rarediseases.org] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    degeneration, or muscle atrophy, depending on which gene is causative.[invitae.com] […] tone (hypotonia), and muscle wasting.[natera.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com]

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] The eyes presented with severe myopia and retinal dysplasia.[doi.org] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds.[kumc.edu] Hypotonia is a decrease in the normal resistance offered by muscles to passive manipulation When an affected limb is shaken flapping movements of the hands appear of wider[slideshare.net] We have developed NGS for clinical diagnostics in both retinal degeneration and ataxias and these tests have now been developed as NHS services through the Oxford Regional[ndcn.ox.ac.uk]

  • Autosomal Dominant Mental Retardation Type 21

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor 0002080 Motor delay 0001270 Muscular hypotonia Low or weak[rarediseases.info.nih.gov] degeneration, dementia SCA8 (autosomal dominant type 8) 13q21 with 91 CTG repeats (untranslated) (10q23-q24) Gait ataxia, dysarthria, seizures, diplopia, nystagmus, tremor[bcm.edu]

  • Duchenne Muscular Dystrophy

    I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[dailymail.co.uk] , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[orthobullets.com] Affected individuals may have double vision and problems with upper gaze, and others may have retinitis pigmentosa (progressive degeneration of the retina that affects night[web.archive.org]

  • Early Infantile Epileptic Encephalopathy Type 2

    face Autistic behavior Wide nasal bridge Micrognathia Myopia Autism Abnormality of cardiovascular system morphology Microtia Postnatal growth retardation Inability to walk[mendelian.co] Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.[diseaseinfosearch.org] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] 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] In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of DS-related[ncbi.nlm.nih.gov]

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