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37 Possible Causes for Congenital Eye Anomaly, Muscle Hypotonia, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    All patients had feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature.[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] Hypotonia (rather than stiffness) is prominent. Frequent bouts of hyperthermia have been described (possibly related to mitochondrial dysfunction).[asja.eg.net]

  • Hallermann-Streiff Syndrome

    Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome multiple pterygium syndrome multiple synostoses syndrome multiple system atrophy Multisystemic Smooth Muscle[rgd.mcw.edu] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov]

  • Nemaline Myopathy Type 4

    People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face[malacards.org] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk] (congenital with brain and eye anomalies), type A, 5, 613153 LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 ISPD[gsdseq.ir]

  • Congenital Cataract

    Neurologic examination showed truncal hypotonia and pyramidal signs in 8 of 9 patients.[jamanetwork.com] We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[ukgtn.nhs.uk]

  • Rigid Spine Syndrome

    Showing of 42 80%-99% of people have these symptoms Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Myopathy Muscle tissue disease 0003198 Neck[rarediseases.info.nih.gov] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197.[cyberleninka.org]

  • Pitt-Hopkins Syndrome

    Low muscle tone (hypotonia). Although most children with PTHS do learn to walk around the age of 4 to 6 many walk with a wide, unsteady gait.[pitthopkins.org.uk] As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[ncbi.nlm.nih.gov] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Wolf Hirschhorn Syndrome

    Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] The most commonly recognised include: cleft lip and/or palate , congenital heart disease, (see entry Heart Defects ), kidney problems (see entry Kidney disease ), eye anomalies[contact.org.uk]

  • Chudley-Rozdilsky Syndrome

    ., they presented with marked muscle hypotonia at birth.[symptoma.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov] […] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus[personalizedcause.com]

  • Chromosome 17p13.1 Deletion Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov] Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1. Entry No: 236670. Last Edited September 4, 2015. Available at: .[rarediseases.org] hypotonia - Delay in motor function Delay in fine motor skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay[bmcmedgenet.biomedcentral.com]

  • Congenital Disorder of Glycosylation Type 1Q

    Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced[bmcmedgenet.biomedcentral.com] […] bridge ; Prominent, high and nasal root; Tubular nose; [Mouth]; Thin upper lip; Drooling; [Teeth]; Crowded teeth ABDOMEN: [Gastrointestinal]; Chewing abnormalities GENITOURINARY[findzebra.com] […] the eye, and early lethality.[omim.org]

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