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Euryblepharon

MedGen UID:
724511
Concept ID:
C1303001
Congenital Abnormality; Finding
Synonyms: euryblepharon; Kabuki syndrome eyelids
SNOMED CT: Euryblepharon (400954002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0012905
Monarch Initiative: MONDO:0020464
Orphanet: ORPHA99172

Definition

Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. [from HPO]

Term Hierarchy

Conditions with this feature

Orofacial cleft 15
MedGen UID:
909661
Concept ID:
C4225209
Congenital Abnormality
Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
Blepharocheilodontic syndrome 2
MedGen UID:
1623594
Concept ID:
C4540127
Disease or Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.
Blepharocheilodontic syndrome 1
MedGen UID:
1632198
Concept ID:
C4551988
Disease or Syndrome
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).

Professional guidelines

PubMed

Taban M, Mancini R, Nakra T, Velez FG, Ela-Dalman N, Tsirbas A, Douglas RS, Goldberg RA
Ophthalmic Plast Reconstr Surg 2009 Jul-Aug;25(4):259-63. doi: 10.1097/IOP.0b013e3181ac984b. PMID: 19617780

Recent clinical studies

Etiology

Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Huggins AB, Carrasco JR, Eagle RC Jr
Orbit 2019 Dec;38(6):514-518. Epub 2019 Jan 27 doi: 10.1080/01676830.2019.1567800. PMID: 30688132
Taban M, Mancini R, Nakra T, Velez FG, Ela-Dalman N, Tsirbas A, Douglas RS, Goldberg RA
Ophthalmic Plast Reconstr Surg 2009 Jul-Aug;25(4):259-63. doi: 10.1097/IOP.0b013e3181ac984b. PMID: 19617780

Diagnosis

Dorronsoro M, Bertino M, Suarez JM, Morocho GJ, Vivante SJ, Aldecoa JP
Arch Soc Esp Oftalmol (Engl Ed) 2024 Apr;99(4):169-172. Epub 2024 Feb 1 doi: 10.1016/j.oftale.2024.01.014. PMID: 38309657
Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Huggins AB, Carrasco JR, Eagle RC Jr
Orbit 2019 Dec;38(6):514-518. Epub 2019 Jan 27 doi: 10.1080/01676830.2019.1567800. PMID: 30688132
Bedran EG, Pereira MV, Bernardes TF
Semin Ophthalmol 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570. PMID: 20590414
Dollfus H, Verloes A
Surv Ophthalmol 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. PMID: 15530943

Therapy

Taban M, Mancini R, Nakra T, Velez FG, Ela-Dalman N, Tsirbas A, Douglas RS, Goldberg RA
Ophthalmic Plast Reconstr Surg 2009 Jul-Aug;25(4):259-63. doi: 10.1097/IOP.0b013e3181ac984b. PMID: 19617780

Prognosis

Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Taban M, Mancini R, Nakra T, Velez FG, Ela-Dalman N, Tsirbas A, Douglas RS, Goldberg RA
Ophthalmic Plast Reconstr Surg 2009 Jul-Aug;25(4):259-63. doi: 10.1097/IOP.0b013e3181ac984b. PMID: 19617780

Clinical prediction guides

Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Iida A, Narai S, Takagi R, Ono K, Ikeda N
Cleft Palate Craniofac J 2006 Mar;43(2):237-43. doi: 10.1597/04-200.1. PMID: 16526930
Dollfus H, Verloes A
Surv Ophthalmol 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. PMID: 15530943
Guion-Almeida ML, Rodini ES, Kokitsu-Nakata NM, Bologna-Amantini D
Am J Med Genet 1998 Mar 5;76(2):133-6. doi: 10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u. PMID: 9511975

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