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Results 31 - 40 of 52 for Rare disorder with ptosis
  1. Ataxia neuropathy spectrum 
    ... the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle ... ataxic neuropathy-dysarthria-ophthalmoparesis syndrome National Organization for Rare Disorders (NORD) SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  2. PACS1 syndrome 
    ... that point downward (downslanting palpebral fissures), droopy eyelids (ptosis), a rounded nasal tip, a wide mouth with ... disability-craniofacial dysmorphism-cryptorchidism syndrome National Organization for Rare Disorders (NORD) SCHUURS-HOEIJMAKERS SYNDROME; SHMS PubMed Dutta AK. ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  3. Frontonasal dysplasia 
    ... and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have ... and genital anomaly Frontonasal dysplasia National Organization for Rare Disorders (NORD) FRONTONASAL DYSPLASIA 1; FND1 FRONTONASAL DYSPLASIA 2; ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  4. Noonan syndrome with multiple lentigines 
    ... ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. Affected individuals ... Noonan syndrome with multiple lentigines National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEOPARD SYNDROME 1; LPRD1 LEOPARD ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  5. Kearns-Sayre syndrome 
    ... that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called ... Sayre syndrome Kearns-Sayre syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov KEARNS-SAYRE SYNDROME; KSS PubMed ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  6. Oculofaciocardiodental syndrome 
    ... controls blood flow through the heart (mitral valve prolapse).Teeth with very large roots (radiculomegaly) are characteristic ... Registry: Oculofaciocardiodental syndrome Oculofaciocardiodental syndrome National Organization for Rare Disorders (NORD) MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 PubMed Gorlin RJ, ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  7. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose ... intellectual disability syndrome, MKB type National Organization for Rare Disorders (NORD) OHDO SYNDROME, X-LINKED; OHDOX PubMed Maat- ...
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  8. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About ... type Blepharophimosis-intellectual disability syndrome National Organization for Rare Disorders (NORD) OHDO SYNDROME, SBBYS VARIANT; SBBYSS PubMed Campeau ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  9. Diamond-Blackfan anemia 
    ... such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, ... Blackfan anemia Blackfan-Diamond anemia National Organization for Rare Disorders (NORD) ClinicalTrials.gov DIAMOND-BLACKFAN ANEMIA 1; DBA1 ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  10. Tyrosine hydroxylase deficiency 
    ... Additional signs and symptoms may include droopy eyelids (ptosis), involuntary upward-rolling eye movements, and intellectual disabilities. ... Autosomal recessive dopa-responsive dystonia National Organization for Rare Disorders (NORD) ClinicalTrials.gov SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PubMed ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
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