aetiology
Last reviewed 01/2018
The aetiology of radial club hand or radial dysplasia can be divided into:
- sporadic cases, which are not inherited and are presumed to be due to de novo genetic mutations
- syndromic cases; certain syndromes have a higher than expected association
with radial dysplasia. Typically, organ systems that develop
at the same time as the upper limb are affected:
- VACTERL or VATER Syndrome
- Holt-Oram Syndrome
- haemopoietic syndromes:
- Fanconi's anaemia
- Thrombocytopaenia with Absent Radius (TAR Syndrome)
- craniofacial syndromes:
- Nager's Syndrome
- Goldenhar's Syndrome
- Mobius Syndrome
- cleft lip and palate
- Treacher-Collins Syndrome
- skeletal syndromes and isolated skeletal associations:
- Klippel-Feil Syndrome
- Sprengel deformity
- syndactyly
- scoliosis
- teratogens:
- radiation
- valproic acid
- thalidomide