triphalangeal thumbs-brachyectrodactyly syndrome
http://purl.obolibrary.org/obo/MONDO_0008607
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. [ Orphanet:2947 ]
Term info
- GARD:0005290 (MONDO:equivalentTo)
- MESH:C536564 (Orphanet:2947/e)
- Orphanet:2947 (OMIM:190680)
- OMIM:190680 (Orphanet:2947/e)
- UMLS:C1860804 (Orphanet:2947/e)
ordo_malformation_syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
http://linkedlifedata.com/resource/umls/id/C1860804, http://purl.obolibrary.org/obo/Orphanet_2947, https://omim.org/entry/190680, http://identifiers.org/mesh/C536564
Carnevale-Hernández-del Castillo syndrome
triphalangeal thumbs brachyectrodactyly, triphalangeal thumbs with brachyectrodactyly, triphalangeal thumb and brachy-ectrodactyly syndrome, triphalangeal thumb and brachyectrodactyly syndrome
MONDO:0008607