Aaron Provance, MD

During a neurologic evaluation for seizures, a 17-year-old boy with epilepsy was noted to have a deformity of both lower eyelids. According to the boy's mother, the deformity had been present since birth; it was not related to the patient's neurologic condition. 

The patient had normal bilateral vision, but he experienced a burning sensation and tearing bilaterally when staring at an object.

Aaron Provance, MD, of Morgantown, WVa, and Atiya Khan, MD, of Fort Wayne, Ind, diagnosed euryblepharon--a rare congenital anomaly of the palpebral fissure in which excess horizontal eyelid length and decreased vertical eyelid skin cause the eyelids to pull away from the orbit. The resulting appearance may be mistaken for congenital ectropion. The lower eyelids are usually involved, but all 4 eyelids can be affected. In patients with euryblepharon, the eyelid does not oppose the lateral aspect of the globe and conjunctiva; therefore, there is no risk of exposure keratitis. Eye tearing and burning are associated symptoms.

Euryblepharon may result from congenital hypoplasia or the absence of the palpebral and lacrimal portions of the orbicularis oculi muscle.

 Euryblepharon may be associated with other ocular anomalies, such as lateral displacement of the proximal lacrimal drainage system, telecanthus, congenital ptosis, and strabismus.

 It may occur concurrently with congenital cleft lip, oligodontia, ectropion, and lagophthalmos in blepharo-cheilo-dontic syndrome. Nonocular defects associated with euryblepharon include hypospadias, inguinal hernias, flattening of the bridge of the nose, and dental anomalies.

Euryblepharon can be surgically corrected.

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2. Yen MT, Lucci LM, Anderson RL. Management of eyelid anomalies associated with blepharo-cheilo-dontic syndrome. 

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3. Guion-Almeida ML, Rodini ES, Kokitsu-Nakata NM, Bologna-Amantini D. Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. 

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4. D'Esposito M, Magli A, Del Prete A. Genetic study and surgical correction of euryblepharon. 

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5. Gupta AK, Saxena P. Euryblepharon with associated ocular anomalies. 

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6. McCord CD Jr, Chappell J, Pollard ZF. Congenital euryblepharon. 

Articles

During a neurologic evaluation for seizures, a 17-year-old boy with epilepsy was noted to have a deformity of both lower eyelids. According to the boy's mother, the deformity had been present since birth; it was not related to the patient's neurologic condition.

Photoclinic: Euryblepharon

This neonate was born at 34 weeks' gestational age via elective cesarean section because of breech presentation. He weighed 1950 g, and his Apgar scores were 7 and 8, at 1 minute and 5 minutes, respectively.

He was noted to have facial asymmetry. While resting, his upper face (including forehead skin folds and nasolabial folds) appeared symmetric (

); while crying, his mouth pulled to the lower right side (

). Other physical findings were normal. There was no family history of this malformation. The mother's health had been unremarkable during her pregnancy, and she had not taken any medications.

An MRI scan of the brain and an echocardiogram were normal. The patient's karyotype was also normal, and results of a fluorescent in situ hybridization (FISH) study for a 22q11.2 chromosomal deletion were negative. Atiya Khan, MD, of Fort Wayne, Ind, and Aaron Provance, MD, of Morgantown, WVa, determined that the asymmetric facies were the result of an absent left depressor anguli oris muscle.

Asymmetric crying facies syndrome is a very rare disorder associated with unilateral absence or hypoplasia of the depressor anguli oris muscle. Usually, this is a cosmetic defect and an isolated finding. Nevertheless, the condition may be associated with underlying anomalies: a careful workup--which includes MRI, an echocardiogram, and karyotyping--is therefore indicated. For example, heart defects may accompany the facial asymmetry (cardiofacial, or Cayler, syndrome). 

The gene map locus for Cayler syndrome has also been linked to the CATCH 22 (

 Other malformations include GI tract and genitourinary tract anomalies, CNS defects, microcephaly, micrognathia, and mental retardation.

The male-to-female ratio of this malformation is 2:1.

 In one study of 5532 infants, the incidence of absence or hypoplasia of the depressor anguli oris was 0.3%.

 Rarely, this malformation is familial; in one study, 3 of 12 siblings were affected.

This disorder is often confused with facial nerve palsy. Patients with lower motor neuron facial nerve palsy have an asymmetric forehead and nasolabial folds; they are unable to close the eye completely on the affected side. In patients with an absent or hypoplastic depressor anguli oris muscle, the forehead skin folds and nasolabial folds are symmetric and eye closure is normal bilaterally. Affected newborns usually have no difficulty in feeding or trouble with drooling. The malformation becomes less apparent with age.

Treatment is for cosmesis. Parents need to be reassured that this condition is not caused by birth trauma.


1. Nezarati MM, McLeod DR. VACTERL manifestations in two generations of a family. 

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2. Lin DS, Huang FY, Lin SP, et al. Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. 

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3. Lahat E, Heyman E, Barkay A, Goldberg M. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. 

 2000;15:808-810.
4. Singhi S, Singhi P, Lall KB. Congenital asymmetrical crying facies. 

Aaron Provance, MD

Articles

Photoclinic: Euryblepharon

Photoclinic: Asymmetric Crying Facies Syndrome