Rare autosomal recessive or autosomal dominant inherited condition characterized by short stature, macrocephaly, high-arched palate, genital hypoplasia, and umbilical abnormalities. Autosomal dominant form is more common and presents with a combination of skeletal, craniofacial, and dental anomalies, sometimes associated with osteosclerosis of the skull and normal stature. The autosomal recessive form presents with more severe skeletal dysplasia, craniofacial dysmorphisms, and dwarfism with short limbs. Cardiac defects and scoliosis have been observed in the recessive form.