Holt-Oram syndrome [DS:H00433] Berk-Tabatznik syndrome Heart-hand syndrome, Slovenian type Long thumb brachydactyly syndrome
Description
Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common type HHS of Holt-Oram syndrome (HOS) and several rare types. TBX5 and LMNA are the only two genes found to contribute to HHS, causing HOS and HHS Slovenian type (HHS-S), respectively.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02725 Heart-hand syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02725 Heart-hand syndrome
