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24 Possible Causes for Aortic Valve Insufficiency, Optic Disc Pallor, Spastic Dystonia

  • Familial Infantile Bilateral Striatal Necrosis

    valve regurgitation", "Rheumatic mitral AND aortic valve incompetence", "Rheumatic mitral AND aortic valve insufficiency", "Acute anteroseptal myocardial infarction", "Acute[wardle.org] disc pallor Athetosis 3-Methylglutaconic aciduria Abnormality of mitochondrial metabolism Epileptic encephalopathy Hypsarrhythmia Aciduria Encephalopathy Abnormality of the[mendelian.co] Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills[orpha.net]

  • Behr Syndrome

    valve Q23.1 ICD-10-CM Diagnosis Code Q23.1 Congenital insufficiency of aortic valve 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To Bicuspid aortic valve[icd10data.com] Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] Microcephaly and progressive neurologic impairment with spastic quadriplegia, seizures, and dystonia have been reported. [ Sweetman & Williams 2001 , Ijlst et al 2002 , Illsinger[ncbi.nlm.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    Tall stature, pectus deformity, club foot, aortic root aneurysm, and mitral valve insufficiency are common features with pathogenic variants in TGFβ2 (LDS4).[chginc.org] (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com] dystonia Education and therapy: individualized education plan (IEP), Physical/Occupational/Speech therapy and others as indicated Sleep hygiene, ruling out sleep problems[childneurologyfoundation.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Stenosis, Supravalvular Aortic Valve Insufficiency Aortic Valve Prolapse Aortic Valve Stenosis Aortitis Aortopulmonary Septal Defect Ape Diseases Aphakia Aphakia, Postcataract[medgene.med.harvard.edu] disc pallor Sloping forehead Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Cortical gyral simplification Biparietal narrowing Abnormality of the[mendelian.co] Maternally-inherited mitochondrial myopathy Maternally-inherited spastic paraplegia Maternally-inherited SPG Maternal monosomy 14q32.2 Maternal phenylketonuria Maternal PKU[orpha.net]

  • Spinocerebellar Ataxia Type 4

    Tall stature, pectus deformity, club foot, aortic root aneurysm, and mitral valve insufficiency are common features with pathogenic variants in TGFβ2 (LDS4).[chginc.org] On funduscopy, there were small drusen around the fovea and mild temporal optic disc pallor (Fig. 3).[journals.lww.com] Dystonia (spasticity or involuntary and repetitive movements) or gait ataxia is usually the initial symptom in children.[encyclopedia.com]

  • Autosomal Dominant Larsen Syndrome

    Cardiovascular manifestations include dilation of the aorta, aortic valve insufficiency, a predisposition for aortic tear and rupture, mitral valve prolapse with or without[pediatrics.aappublications.org] […] the sternum Migraine Oxycephaly Pulmonic stenosis Optic disc pallor Hernia Growth delay Progressive cerebellar ataxia Hypertelorism Talipes equinovarus Autosomal dominant[mendelian.co] Other later signs are axial hypotonia, abnormal movements such as tremor, spasticity, hyperkinetic movements, dystonia with eventual regression of milestones.[disorders.eyes.arizona.edu]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific[genda.com.ar] disc pallor Pancytopenia Peripheral demyelination Thoracolumbar kyphosis Antineutrophil antibody positivity Hypoplastic inferior ilia Generalized abnormality of skin Increased[mendelian.co] , X-linked Parkinsonism-dystonia, infantile, autosomal recessive Peroxisome biogenesis disorder 10A Peroxisome biogenesis disorder 11A Peroxisome biogenesis disorder 12A Peroxisome[agdx.portal.cartagenia.com]

  • Pelviscapular Dysplasia

    NOP10) Dyskeratosis congenita, autosomal recessive 1 (DKCB1) NOP10 ( NOLA3) Dyskeratosis congenita, autosomal recessive 1 (DKCB1) NOTCH1 del Aortic valve disease 1 (AOVD1)[uniklinik-freiburg.de] disc pallor X-linked dominant inheritance Pulmonary arterial hypertension Sandal gap Short chin Erythroderma Aplasia cutis congenita Ureteral duplication Autosomal dominant[mendelian.co] […] paraplegia - dystonia 518 Leukoencephalopathy - dystonia - motor neuropathy 519 SCP2 519 DARS2 520 Leukoencephalopathy with brain stem, spinal cord involvement - lactate[research.cchmc.org]

  • Renpenning Syndrome

    valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific[genda.com.ar] […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org] Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies.[pediatrics.aappublications.org]

  • Retinitis Pigmentosa with Situs Inversus

    valve Left ventricular hypertrophy Hepatic fibrosis Tics Dental crowding Asthma Pigmentary retinopathy Truncal obesity Renal insufficiency Postaxial polydactyly Micropenis[mendelian.co] Optic disc pallor MedGen UID: 108218 • Concept ID: C0554970 • Finding A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina).[ncbi.nlm.nih.gov] , and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and[checkrare.com]

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