heart defects-limb shortening syndrome
http://purl.obolibrary.org/obo/MONDO_0008917
Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. [ Orphanet:1354 ]
Term info
- Orphanet:1354 (OMIM:212135)
- UMLS:C1859327 (Orphanet:1354/e)
- MESH:C535850 (Orphanet:1354/e)
- GARD:0002613 (MONDO:equivalentTo)
- SCTID:721009008 (MONDO:equivalentTo)
- OMIM:212135 (Orphanet:1354/e)
gard_rare, ordo_malformation_syndrome
Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
http://purl.obolibrary.org/obo/Orphanet_1354, http://linkedlifedata.com/resource/umls/id/C1859327, http://identifiers.org/mesh/C535850, https://omim.org/entry/212135, http://identifiers.org/snomedct/721009008
heart defect and limb shortening syndrome
heart defects and limb shortening, cardioskeletal syndrome kuwaiti type, cardioskeletal syndrome, KUWAITI type
MONDO:0008917
https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type