Features involve head with microcephaly,
prominent occiput, microretrognathia, high-vaulted narrow palate,
telecanthus, short palpebral fissures, low-set long ears, anteverted nares,
and broad nasal root. Cry and voice are abnormal. Limbs can present
syndactyly of toes, brachydactyly, thinning of the proximal end of the first
metacarpal with shortening of that metacarpi, and abnormal dermatoglyphs
with capillary hemangioma. Esophageal atresia, duodenal atresia, or both are
frequent.