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Results 41 - 50 of 52 for Rare disorder with ptosis
  1. Fukuyama congenital muscular dystrophy 
    ... to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness ... Congenital muscular dystrophy, Fukuyama type National Organization for Rare Disorders (NORD) ClinicalTrials.gov MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  2. Koolen-de Vries syndrome 
    ... features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer ... syndrome Koolen-De Vries syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov KOOLEN-DE VRIES SYNDROME; KDVS ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  3. Centronuclear myopathy 
    ... People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the ... Myopathy, centronuclear, 5 Centronuclear myopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov MYOPATHY, CENTRONUCLEAR, 1; CNM1 MYOPATHY, ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  4. Saethre-Chotzen syndrome 
    ... high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. ... Chotzen syndrome Saethre-Chotzen syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov SAETHRE-CHOTZEN SYNDROME; SCS ROBINOW- ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  5. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... neurological signs and symptoms can include droopy eyelids (ptosis), weakness of the muscles that control eye movement ( ... syndrome 8a Mitochondrial neurogastrointestinal encephalomyopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 1 ( ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  6. X-linked cardiac valvular dysplasia 
    ... that the valve is weak or floppy. Valve prolapse further prevents the thickened valve from closing properly ... X-linked myxomatous valvular dysplasia National Organization for Rare Disorders (NORD) CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX PubMed ...
    https://medlineplus.gov/.../x-linked-cardiac-valvular-dysplasia - Genetics
  7. Spinocerebellar ataxia type 36 
    ... side-to-side (oculomotor apraxia), and droopy eyelids (ptosis). Sensorineural hearing loss, which is hearing loss caused ... Registry: Spinocerebellar ataxia type 36 National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA 36; SCA36 PubMed ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  8. STAC3 disorder 
    ... described as "myopathic facies", which include drooping eyelids (ptosis), sunken cheeks, and a mouth often held in ... congenital myopathy Native American myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 13; CMYO13 PubMed Campiglio M, ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  9. Andermann syndrome 
    ... may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze ... Corpus callosum agenesis-neuronopathy syndrome National Organization for Rare Disorders (NORD) AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  10. UNC80 deficiency 
    ... with a prominent forehead (frontal bossing); droopy eyelids (ptosis); folds of skin covering the inner corners of ... retardation and characteristic facies 2 National Organization for Rare Disorders (NORD) HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
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