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Long columella with cleft lip/palate; eye, heart, and intestinal anomalies, and mental retardation.

Autosomal recessive.

First reported in 1991 (two cases).


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. Abnormal EEG.

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

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

As determined by cardiac function. The potential for pulmonary aspiration should be considered (rapid-sequence induction).

Patient cooperation may be limited secondary to mental retardation. Sedative and/or anxiolytic premedication and presence of the primary caregiver for induction of anesthesia may be helpful.

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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