Holt-Oram syndrome; heart-hand syndrome

Genetics

• associated with defects in TBX5
• associated with defects in LMNA

Clinical manifestations

• upper limb skeletal defect
  • triphalangeal thumb
  • absent thumb
• hypoplasia of clavicles
• atrial septal defects (other defects common)

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder syndrome (multisystem disorder)

Additional terms

• T-box transcription factor TBX5; T-box protein 5 (TBX5)

Database

• OMIM: https://mirror.omim.org/entry/142900
• OMIM: https://mirror.omim.org/entry/601620