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At a glance

It is characterized by a long columella with cleft lip/palate, eye, heart, and intestinal anomalies, and mental retardation. The defining feature of this medical condition is an abnormal morphology of the columella that extends below the margin of the nares.


Only five cases have been reported. Two of them were described in females, and the presence of an imperforated anus and rectal stenosis may define the difference between sexes.

Genetic inheritance

Autosomal recessive inheritance trait.


It was first reported in 1991 within two individuals.




The presence of multiple congenital anomalies with coloboma of the iris, cardiac defects (atrial and/or and ventricular septal defects, tetralogy of Fallot), mental retardation, urogenital and ear abnormalities, and facial cleft will point to the diagnosis. Recurrent episodes of bowel obstruction are often observed. Abnormal EEG.

Clinical aspects

Severe mental retardation, congenital heart defect, cleft lip/palate, malrotation of intestines, displaced kidneys, flat-tipped, bulbous nose, long columella, microphthalmia, iris coloboma.

Precautions before anesthesia

Echocardiography to assess cardiac function. Esophageal dysfunction may lead to recurrent aspiration pneumonia.

Anesthetic considerations

The most important is to determine the cardiac anomalies and functional alterations. The potential for pulmonary aspiration should be considered (rapid sequence induction). Patient cooperation may be limited as a result of mental retardation. Sedative and/or anxiolytic premedication and presence of the primary caregiver for induction of anesthesia may be helpful.

Pharmacological implications

Subacute bacterial endocarditis prophylaxis may be indicated.


Kapur  S, Toriello  HV: Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart and intestine anomalies. Am J Med Genet 41:423, 1991.  [PubMed: 1776630]

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