Presents with a combination of craniofacial
defects, ear malformations, skin anomalies, and anogenital defects.
Craniosynostosis, choanal atresia, and a cleft or narrow palate are the
prominent craniofacial features. Five patients had mild-to-severe cloverleaf
skull, and one presented with acrocephaly. Neurologic malformations were
limited to hydrocephalus in some of the patients with cloverleaf skull, and
one patient also had agenesis of the corpus callosum. Upper airway
obstruction caused respiratory distress postnatally in some cases. Skin
anomalies presented with deep skin furrows (cutis gyrata) and acanthosis
nigricans. Prominent umbilical stump or umbilical hernia have been
reported, as have an anteriorly placed anus, cryptorchidism, and a bifid
scrotum. Most children die early, usually of unknown causes or respiratory failure. The longest
reported survival time is 13 years.