Acrocraniofacial Dysostosis

Clinical Features

Kaplan et al. (1988) described 2 sisters, born to consanguineous parents, with a syndrome of short stature, acrocephaly, hypotelorism, proptosis, ptosis, downslanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiologic abnormalities included craniosynostosis, hypoplastic first metacarpals and metatarsals, partial duplication of the distal phalanx of the thumb, malformed malleus and incus, and tall lumbar vertebrae with increased interpedicular distance. The condition was contrasted with OPD I (311300) and OPD II (304120).