congenital heart disease autosomal recessive disease heart defects-limb shortening syndrome https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type https://www.malacards.org/card/cardioskeletal_syndrome_kuwaiti_type_2 https://www.malacards.org/card/heart_defects_limb_shortening_syndrome GARD:0002613 OMIM:212135 MESH:C535850 Orphanet:1354 MEDGEN:349142 heart defects and limb shortening SCTID:721009008 heart defect and limb shortening 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. MONDO:0008917 UMLS:C1859327 multiple congenital anomalies/dysmorphic syndrome without intellectual disability cardiogenetic disease