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Results 11 - 20 of 52 for Rare disorder with ptosis
  1. Cap myopathy 
    ... the mouth (high-arched palate), severely drooping eyelids (ptosis), and a long face. Some affected individuals develop ... can live into adulthood. Cap myopathy is a rare disorder that has been identified in only a small ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  2. Multiminicore disease 
    ... lead to abnormal eye movements and droopy eyelids (ptosis). This form of the condition can also cause ... condition. Multiminicore disease is thought to be a rare disorder, although its incidence is unknown. Variants (also known ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  3. Lateral meningocele syndrome 
    ... point downward (downslanting palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have a flat appearance of ... or GERD). Lateral meningocele syndrome is a very rare disorder. Only a small number of cases have been ...
    https://medlineplus.gov/.../condition/lateral-meningocele-syndrome - Genetics
  4. Dopamine beta-hydroxylase deficiency 
    ... Early signs and symptoms may include droopy eyelids (ptosis) and low blood pressure (hypotension). Infants with dopamine ... adolescence. Dopamine beta-hydroxylase deficiency is a very rare disorder. As of 2021, approximately 25 individuals with this ...
    https://medlineplus.gov/.../dopamine-beta-hydroxylase-deficiency - Genetics
  5. Freeman-Sheldon syndrome 
    ... narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not look in the ... to physical abnormalities. Freeman-Sheldon syndrome is a rare disorder. It is estimated to affect 200 to 300 ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  6. Joubert syndrome 
    ... include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and ... of the vermis Joubert syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov JOUBERT SYNDROME 1; JBTS1 JOUBERT ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  7. ADNP syndrome 
    ... downward (upslanting or downslanting palpebral fissures), droopy eyelids (ptosis), a broad nasal bridge, and a thin upper ... autism spectrum disorder ADNP syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov HELSMOORTEL-VAN DER AA SYNDROME; ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  8. Congenital contractural arachnodactyly 
    ... control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural ... contractural arachnodactyly Congenital contractural arachnodactyly National Organization for Rare Disorders (NORD) ... CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA PubMed ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  9. Congenital fibrosis of the extraocular muscles 
    ... Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.Researchers have identified ... Congenital fibrosis of extraocular muscles National Organization for Rare Disorders (NORD) ClinicalTrials.gov FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  10. Au-Kline syndrome 
    ... of the eyelids (long palpebral fissures), drooping eyelids (ptosis), and shallow eye sockets. Other common facial features ... Au-Kline syndrome Okamoto syndrome National Organization for Rare Disorders (NORD) AU-KLINE SYNDROME; AUKS PubMed Au PYB, ...
    https://medlineplus.gov/genetics/condition/au-kline-syndrome - Genetics
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