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Results 1 - 10 of 19 for Rare eyelid malformation
  1. TUBB2B gene 
    ... TUBB2B gene has been found to cause a rare form of congenital fibrosis of the ... a brain malformation called polymicrogyria, in which the surface of the ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  2. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... symptoms. Both types I and II include the eyelid malformations and other facial features. Type I is also ... as various activities in the ovaries, resulting in eyelid malformation and abnormally accelerated maturation of certain ovarian cells ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  3. Lacrimo-auriculo-dento-digital syndrome 
    ... eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal ...
    https://medlineplus.gov/.../lacrimo-auriculo-dento-digital-syndrome - Genetics
  4. TP63 gene 
    ... 4 (SHFM4), a condition involving hand and foot malformations without any other signs or symptoms. Additionally, TP63 gene mutations are a rare cause of cleft lip and/or cleft palate ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  5. Tetra-amelia syndrome 
    ... or complete fusion of the upper and lower eyelids, the bottom of the tongue attached to the floor of the mouth, or a small lower jaw (micrognathia). Tetra-amelia syndrome is a very rare condition that has been described in only a ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  6. TUBB3 gene 
    ... the condition called CFEOM3, and they are a rare cause of another form called ... have droopy eyelids (ptosis). In addition, people with CFEOM3 can have ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  7. 2q37 deletion syndrome 
    ... skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor. 2q37 ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  8. Frontonasal dysplasia 
    ... affected individuals depends on the severity of the malformations and whether or not surgical ... Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  9. PACS1 syndrome 
    ... eyes that point downward (downslanting palpebral fissures), droopy eyelids ... occur, such as malformations of the heart, brain, eyes, or other organs. ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  10. Manitoba oculotrichoanal syndrome 
    ... eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of ... Chudley AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
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