Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation

Siegel-Bartlet et al. (2002) reported 2 female sibs with congenital heart defects: one with atrial and ventricular septal defects, which were surgically repaired, and the other with a ventricular septal defect that closed spontaneously. Both sibs also had a sacral neural tube defect with tethered cord requiring surgical repair. Other common features included bilateral hyperopia, rapid onset of cataracts, aphakic glaucoma, and abnormal facial features with low anterior hairline, short philtrum with full lips, prominent widely spaced central incisors, and micrognathia. There was generalized growth and developmental delay. Siegel-Bartlet et al. (2002) distinguished the disorder from Kousseff syndrome (see 188400) by the presence of cataracts. They suggested that the apparently autosomal recessive MCA/MR disorder in their family might be caused by a metabolic derangement.