acrofacial dysostosis, Palagonia type https://www.malacards.org/card/acrofacial_dysostosis_palagonia_type_2 https://www.malacards.org/card/acrofacial_dysostosis_patagonia_type Orphanet:1787 SCTID:720429007 MESH:C538185 DOID:0060385 PAFD MEDGEN:355645 AFD- Palagonia type Palagonia type of acrofacial dysostosis Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. GARD:0000499 icd11.foundation:656294814 UMLS:C1866168 MONDO:0011154 Palagonia form of AFD acrofacial dysostosis Palagonia type OMIM:601829 acrofacial dysostosis, Palagonia type acrofacial dysostosis