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14 Possible Causes for Congenital Eye Anomaly, Hyporeflexia, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia[mousephenotype.org] 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] He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus.[advbiores.net]

  • Congenital Cataract

    Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Marked lactic acidemia occurs with even limited muscular exertion.[orpha.net] 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]

  • Nemaline Myopathy Type 4

    Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes (hyporeflexia), and a high-arched palate, along with electron-dense[en.wikipedia.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]

  • Rigid Spine Syndrome

    Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Hamstring contractures 0003089 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[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]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Recurrent pneumonia Ventricular hypertrophy High myopia Abnormality of skin pigmentation Retinal detachment Corneal opacity Severe global developmental delay Coloboma Pneumonia Hyporeflexia[mendelian.co] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital[mendelian.co]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] system Decreased fetal movement Areflexia Low-set ears Ophthalmoplegia Fatigue Downslanted palpebral fissures Cardiomyopathy Infantile onset Ventriculomegaly Facial palsy Hyporeflexia[mendelian.co] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Wolf Hirschhorn Syndrome

    Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy.[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]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Characteristic features:  Onset in early life with hypotonia, hyporeflexia, generalized weakness that is more often proximal than distal,  Poor muscle bulk  Dysmorphic[slideshare.net] Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli.[bio2rdf.org] […] with brain and eye anomalies) ISPD Muscular dystrophy-dystroglycanopathy KBTBD13 Nemaline myopathy KLHL40 Nemaline myopathy LAMA2 Muscular dystrophy, congenital merosin-deficient[genda.com.ar]

  • Congenital Disorder of Glycosylation Type 1Q

    ; Head bobbing; Hypotonia; Cortical atrophy, progressive; Cerebellar atrophy, progressive; Thin corpus callosum; White matter abnormalities; [Peripheral nervous system]; Hyporeflexia[findzebra.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]

  • Schinzel-Giedion Syndrome

    […] border Drooling Coarse hair Finger clinodactyly Abnormality of the musculature Long nose Shawl scrotum Delayed eruption of teeth Neuronal loss in central nervous system Hyporeflexia[mendelian.co] , prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.[dukespace.lib.duke.edu] […] slant of the eyes and hypertelorism, congenital hip anomaly, scoliosis, hemivertebra, bilateral syndactyly of the fingers and toes, cubitus valgus, mitral valve prolapse,[findzebra.com]

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