Obstructive sleep apnea has been described. Removal of epibulbar tumors can lead to scar formation with resultant leukoma. Velopharyngeal insufficiency has been reported unassociated with cleft palate. Cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts have reported. Occipital encephalocele has been noted.
Cleft palate is twice as common as cleft lip with or without cleft palate.
Pulmonary anomalies, ranging in severity from incomplete lobulation to unilateral agenesis, have been reported. A variety of kidney abnormalities have been reported, including absent kidney, double ureter, ectopia, hydronephrosis, and hydroureter. Spina bifida, anomalous vertebrae, scoliosis, and anomalous ribs are relatively common. There are multiple reports of familial cases, with widely varying expression between affected family members. Patterns of inheritance are consistent with autosomal dominant, autosomal recessive, and multifactorial inheritance.