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253 Possible Causes for Facial Muscle Weakness, Microphthalmos

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids ( ptosis ) and an open mouth.[ghr.nlm.nih.gov] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Pierre Robin Syndrome

    […] of the facial muscles (myotonia); or connective tissue disease. [3] The genetic causes for some of the isolated cases (Pierre Robin sequence without any associated malformations[rarediseases.info.nih.gov] Robin sequence are unknown. [1] Possible mechanisms for the sequence include genetic causes; low volume of amniotic fluid (oligohydramnios), which may limit chin growth; weakness[rarediseases.info.nih.gov]

  • Kearns-Sayre Syndrome

    - exclusiv online MARCUS - GUNN JAW SINDROMUL WINKING Sindromul Marfan mastită POJARUL ( rubeola ) MENINGITELE Meningocelul ( vezi defect de tub neural ) Microftalmie ( MICROPHTHALMOS[euro-libris.ro] weakness, intellectual deficit), skeletal muscle myopathy, intestinal disorders, endocrine disorders (delayed puberty, hypoparathyroidism, diabetes), and renal failure.[orpha.net] weakness.[ncbi.nlm.nih.gov]

  • Syndromic Microphthalmia Type 10

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] muscle weakness, eye motility disorders AD, AR PABN1; an expansion of alanine (GCN) on the repeat region on chromosome 14q11.2 #164300 OGUCHI DISEASE Congenital stationary[eyewiki.aao.org] weakness Autosomal recessive inheritance Proximal muscle weakness Hyperlordosis Flexion contracture Facial palsy Delayed speech and language development High palate Myopathy[mendelian.co]

  • Cross Syndrome

    A, Photograph of the eye in Patient 1 showing the microphthalmos and spastic ectro.pion. B, Ocular anomalies in Patient 1.[kundoc.com] weakness Ocular albinism Abnormality of coagulation Incoordination Aspiration Visual hallucinations Conductive hearing impairment Mediastinal lymphadenopathy Heterogeneous[mendelian.co] [ok′yəlō′- sərē′brəl] Etymology: L, oculus, eye cerebrum, brain an autosomal-recessive syndrome marked by cutaneous hypopigmentation, microphthalmos, small opaque corneas,[medical-dictionary.thefreedictionary.com]

  • Anophthalmia - Microphthalmia Syndrome

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] muscle weakness, eye motility disorders AD, AR PABN1; an expansion of alanine (GCN) on the repeat region on chromosome 14q11.2 #164300 OGUCHI DISEASE Congenital stationary[eyewiki.aao.org] ODM is characterized by ptosis, masseter, facial, bulbar muscle and distal limb weakness beginning usually in the patient’s 40s.[reviewofophthalmology.com]

  • Microcornea

    PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.[ncbi.nlm.nih.gov] Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness.[mendelian.co] RESULTS: Ninety-nine children with coloboma, microcornea or microphthalmos had functional vision. Eight unilateral cases were excluded.[ncbi.nlm.nih.gov]

  • Oculodentodigital Dysplasia

    To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.[ncbi.nlm.nih.gov] Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur[ncbi.nlm.nih.gov] @article{b70d58e8f1ac42ecb1556888901df492, title "Relative anterior microphthalmos in oculodentodigital dysplasia", abstract "Here, we report a patient with oculodentodigital[hungary.pure.elsevier.com]

  • Oculo-Pharyngo-Distal Myopathy

    […] bossing Cardiac or ovarian fibroma Medulloblastoma Lymphomesenteric cysts Congenital malformation: cleft lip and/or palate, polydactyly, congenital ocular anomaly (cataract, microphthalmos[reviewofophthalmology.com] Oculopharyngodistal myopathy is an extremely rare disease characterised by slowly progressive blepharoptosis, facial and bulbar muscle weakness and distal leg myopathy.[ncbi.nlm.nih.gov] The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since[ncbi.nlm.nih.gov]

  • Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

    Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location, and high arched palate.[en.wikipedia.org] ODM is characterized by ptosis, masseter, facial, bulbar muscle and distal limb weakness beginning usually in the patient’s 40s.[reviewofophthalmology.com] Other ocular characteristics that have been reported in association with BPES include euryblepharon, strabismus, microphthalmos, lacrimal drainage abnormalities and optic[webeye.ophth.uiowa.edu]

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