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Results 1 - 10 of 52 for Rare disorder with ptosis
  1. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... Blepharophimosis-ptosis-epicanthus inversus syndrome National Organization for Rare Disorders (NORD) BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES PubMed Allen CE, Rubin ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  2. Baraitser-Winter syndrome 
    ... 2 Baraitser-Winter cerebrofrontofacial syndrome National Organization for Rare Disorders (NORD) BARAITSER-WINTER SYNDROME 1; BRWS1 BARAITSER-WINTER SYNDROME 2; BRWS2 PubMed Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  3. Kaufman oculocerebrofacial syndrome 
    ... show signs and symptoms of the condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS ... PubMed Basel-Vanagaite ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  4. 3MC syndrome 
    ... of eyelids with diastasis recti and hip dysplasia Ptosis-strabismus-rectus abdominis diastasis ... Organization for Rare Disorders (NORD) 3MC SYNDROME 1; 3MC1 3MC SYNDROME 3; ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  5. KIF21A gene 
    ... mutations cause the most common form of the disorder, CFEOM1, and are a rare ... eyelids (ptosis). In addition, people with CFEOM3 can have intellectual ...
    https://medlineplus.gov/genetics/gene/kif21a - Genetics
  6. Aromatic l-amino acid decarboxylase deficiency 
    ... to signs and symptoms such as droopy eyelids (ptosis), constriction of the pupils of ... deficiency is a rare disorder. Approximately 350 people with this condition have been ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  7. SETBP1 haploinsufficiency disorder 
    ... corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the ... it is thought to be a rare disorder. At least 45 affected individuals have been ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  8. Oculopharyngeal muscular dystrophy 
    ... muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to ... in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles ...
    https://medlineplus.gov/.../oculopharyngeal-muscular-dystrophy - Genetics
  9. Progressive external ophthalmoplegia 
    ... of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  10. 3p deletion syndrome 
    ... head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes ( ... heart defects. 3p deletion syndrome is likely a rare disorder; at least 30 cases have been described in ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
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