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Holt-Oram syndrome; heart-hand syndrome

Genetics: - associated with defects in TBX5 - associated with defects in LMNA Clinical manifestations: 1) upper limb skeletal defect a) triphalangeal thumb b) absent thumb 2) hypoplasia of clavicles 3) atrial septal defects (other defects common)

Related

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

General

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

Database Correlations

OMIM correlations MORBIDMAP 601620

References

  1. Li et al. Nature Genet 15:21-9, 1997
  2. Basson et al. Nature Genet 15:30-5, 1997
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038