acrocraniofacial dysostosis https://www.malacards.org/card/acrocraniofacial_dysostosis GARD:0003075 Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Kaplan-Plauchu-Fitch syndrome UMLS:C1860145 OMIM:201050 Kaplan Plauchu Fitch syndrome MEDGEN:349738 MONDO:0008712 acrocraniofacial dysostosis MESH:C536892 SCTID:720418008 Orphanet:949 multiple congenital anomalies/dysmorphic syndrome without intellectual disability acrofacial dysostosis