Features involve head (microcephaly, puffy eyelids
(defect of lacrimal system),
thick eyebrows, high nasal bridge, long bulbous nose, long philtrum,
micrognathia, retrognathia, cleft tongue, cleft palate, thickened gingivae), abdomen (inguinal hernia, ectopic testes), and
skeleton (bifid thumbs and toes, overlapping fingers, abnormal soles, sacrococcyx and
rib anomalies). Dry skin, osteosclerosis, hypertonia and spasticity, mental
retardation, seizures, and short stature are associated. Ventricular septal
defects have been observed.