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191 Possible Causes for Lower Eyelid Coloboma

  • Nager Syndrome

    eyelid coloboma Cleft lower eyelid Notched lower eyelid [ more ] 0000652 Microtia Small ears Underdeveloped ears [ more ] 0008551 Ptosis Drooping upper eyelid 0000508 Respiratory[rarediseases.info.nih.gov] Eyelid surgeries can be complex and require multiple or step-wise procedures, and include eyelid coloboma repair, ptosis repair, and ectropion or lower eyelid retraction surgery[eyewiki.aao.org] Patients may have a hole or cleft in the lower eyelid, called a coloboma. They typically have weak or absent cheek bones.[hopkinsallchildrens.org]

  • Mandibulofacial Dysostosis

    We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption[ncbi.nlm.nih.gov] She presented with severe lower eyelid colobomas requiring skin grafting, malar and mandibular hypoplasia, bilateral microtia with external auditory canal atreasia, dysplastic[ncbi.nlm.nih.gov] A nearly complete spectrum of the typical facial characteristics can be present by the early second trimester of gestation, including subtle defects such as lower eyelid colobomas[ncbi.nlm.nih.gov]

  • Coloboma of Eyelid

    Depending on place of damage there is an iris, choroid, lens, ciliary body, optic nerve, upper or lower eyelid coloboma. The illness symptomatology also depends on it.[vision-problems.com] Results: Thirty-one patients (77.5%) presented with an upper eyelid coloboma and 9 patients (22.5%) had a lower eyelid coloboma. 12 (30%) presented with bilateral lid defect[drgolamhaider.com] Coloboma can affect the eyelid, lens, macula, optic nerve, or uvea. Eyelid coloboma In eyelid coloboma, a piece of either the upper or lower eyelid is absent.[sharecare.com]

  • Congenital Deafness

    Treacher Collins Syndrome (OMIM Entry TCOF1) Treacher Collins syndrome is characterized by coloboma of the lower eyelid (the upper eyelid is involved in Goldenhar syndrome[dizziness-and-balance.com]

  • Microtia

    […] lids, microphthalmia, or colobomas of the lid, iris, or retina; partial absence of the medial lower eyelid lashes, paucity of lower lid skin; and down-sloping of the palpebral[journalofethics.ama-assn.org] […] region for features that may be associated with Treacher-Collins syndrome, Nager syndrome, or Goldenhar syndrome (epibulbar dermoid cysts on the conjunctival surface of the lower[journalofethics.ama-assn.org]

  • Treacher-Collins Syndrome Type 3

    Eyelid surgeries can be complex and require multiple or step-wise procedures, and include eyelid coloboma repair, ptosis repair, and ectropion or lower eyelid retraction surgery[eyewiki.aao.org] People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma.[chaiyasate-plasticsurgery.com] People with TCS often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma.[medicinenet.com]

  • Coloboma

    Coloboma can affect the eyelid, lens, macula, optic nerve, or uvea. Eyelid coloboma In eyelid coloboma, a piece of either the upper or lower eyelid is absent.[sharecare.com] In contrast, lower eyelid coloboma are often associated with Treacher-Collins Syndrome. [11] Physical exam may reveal obvious defects in the eyelids and are typically seen[eyewiki.aao.org] There are different types of coloboma, depending on the part of the eye affected: Eyelid coloboma. A piece of the upper or lower eyelid is missing. Lens coloboma.[aao.org]

  • Lens Coloboma

    Depending on place of damage there is an iris, choroid, lens, ciliary body, optic nerve, upper or lower eyelid coloboma. The illness symptomatology also depends on it.[vision-problems.com] In contrast, lower eyelid coloboma are often associated with Treacher-Collins Syndrome. [11] Physical exam may reveal obvious defects in the eyelids and are typically seen[eyewiki.aao.org] Coloboma can affect the eyelid, lens, macula, optic nerve, or uvea. Eyelid coloboma In eyelid coloboma, a piece of either the upper or lower eyelid is absent.[sharecare.com]

  • Isolated Congenital Sclerocornea

    eyelid colobomas/AD, AR/Numerous/#154500, #613717, #248390 TUBEROUS SCLEROSIS/Retinal hamartomas, adenoma sebaceum of eyelids/AD (2/3 de novo)/TSC1 and TSC2/#191100, #613254[eyewiki.org] Affected infants may have additional ocular abnormalities, such as absence or defects (notches) of tissue (colobomas) of the upper eyelids, the lower eyelids, or the colored[rarediseases.org] eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil/AD/SH3BP2/#118400 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND[eyewiki.org]

  • Congenital Mandibular Hypoplasia

    […] lids, microphthalmia, or colobomas of the lid, iris, or retina; partial absence of the medial lower eyelid lashes, paucity of lower lid skin; and down-sloping of the palpebral[journalofethics.ama-assn.org] […] in lower inner third of the eye, notched iris, notched choroid, and colobomas.[wajradiology.org] […] region for features that may be associated with Treacher-Collins syndrome, Nager syndrome, or Goldenhar syndrome (epibulbar dermoid cysts on the conjunctival surface of the lower[journalofethics.ama-assn.org]

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