An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. [ NCIT:C98873 ]
Synonyms: Carpenter 's syndrome acrocephalopolysyndactyly type 2 type II Acrocephalopolysyndactyly Carpenter syndrome acrocephalopolysyndactyly type II ACPS2
Term information
- SCTID:83728000 (MONDO:relatedTo)
- OMIMPS:201000 (MONDO:equivalentTo)
- NORD:897 (MONDO:NORD)
- SCTID:403767009 (MONDO:equivalentTo)
- NCIT:C98873 (MONDO:equivalentTo)
- UMLS:C1275078 (Orphanet:65759/e)
- GARD:6003 (Orphanet:65759)
- DOID:0060234 (MONDO:equivalentTo)
- Orphanet:65759 (MONDO:equivalentTo)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/DOID_0060234
https://omim.org/phenotypicSeries/PS201000
http://identifiers.org/snomedct/403767009
http://linkedlifedata.com/resource/umls/id/C1275078
http://www.orpha.net/ORDO/Orphanet_65759
http://purl.obolibrary.org/obo/NCIT_C98873