acrocraniofacial dysostosis
http://purl.obolibrary.org/obo/MONDO_0008712
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. [ Orphanet:949 ]
Term info
- UMLS:C1860145 (Orphanet:949)
- SCTID:720418008 (MONDO:equivalentTo)
- OMIM:201050 (Orphanet:949/e)
- MESH:C536892 (MONDO:equivalentTo)
- Orphanet:949 (OMIM:201050)
- GARD:0003075 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
https://omim.org/entry/201050, http://linkedlifedata.com/resource/umls/id/C1860145, http://identifiers.org/snomedct/720418008, http://identifiers.org/mesh/C536892, http://purl.obolibrary.org/obo/Orphanet_949
acrocraniofacial dysostosis, Kaplan-Plauchu-Fitch syndrome
Kaplan Plauchu Fitch syndrome
MONDO:0008712