acrofacial dysostosis, Palagonia type

Acrofacial dysostosis, Palagonia type is a very rare condition that has been described in a family from the Sicilian village of Palagonia. People with this condition generally have normal intelligence along with short stature and mild facial differences. Characteristics include differences in the structure of the face and limbs, such as underdeveloped cheekbones, a small lower jaw, and webbing of the fingers with shortening of the fourth metacarpals. Other features noted in the available report include having fewer than normal teeth (oligodontia), a normal or high arched palate, areas of missing skin on the head (aplasia cutis verticis) with twisted hair (pili torti), mild skin webbing between the fingers, and a unilateral cleft lip. Some of these features overlap with those seen in another condition called Zlotogora-Ogur syndrome, although that syndrome does not present with the facial structure differences described here.

The reported symptoms include short stature, mild facial differences such as underdeveloped cheekbones (malar hypoplasia) and a small lower jaw (micrognathia), and webbing of the digits with shortening of the fourth metacarpals. Other signs include missing teeth (oligodontia), a normal or high arched palate, a patch of missing skin on the scalp with twisted hair, mild skin webbing between the fingers (digits 2-5), and a unilateral cleft lip.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Research on acrofacial dysostosis, Palagonia type has been very limited. The condition was reported in a single family in the literature in 1997, and no further studies or reports have been published since then.