SUMMARY

• Radial Clubhand is a rare birth defect characterized by a deformity of hand, with perpendicular relationship between forearm and wrist, and an absent thumb. 

• Diagnosis is made on physical exam.

• Treatment may be observation or surgical reconstruction when the child is around 6 months of age. 

EPIDEMIOLOGY

• Incidence

  • rare

    • 1 per 100,000

  • anatomic location

    • bilateral in 50-72%

    • thumb usually deficient as well

ETIOLOGY

• Genetics

  • likely related to sonic hedgehog gene

• Associated with 

   

  • TAR

    • autosomal recessive condition with thrombocytopenia and absent radius

    • different in that thumb is typically present 

        

  • Fanconi's anemia 

     

    • autosomal recessive condition with aplastic anemia

    • Fanconi screen and chromosomal breakage test to screen

    • treatment is bone marrow transplant

  • Holt-Oram syndrome 

     

    • autosomal dominant condition characterized by cardiac defects

  • VACTERL Syndrome

    • vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects)

  • VATER Syndrome

    • vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis)

PRESENTATION

• Physical exam

  • deformity of hand with perpendicular relationship between forearm and wrist 

  • absent thumb

  • perform careful elbow examination

IMAGING

• Radiographs

  • entire radius and often thumb is absent 

• Laboratory

  • must order CBC, renal ultrasound, and echocardiogram to screen for associated conditions 

TREATMENT

• Nonoperative

  • passive stretching

    • target tight radial-sided structures

  • observation

    • indicated if absent elbow motion or biceps deficiency

      • hand deformity allows for extra reach to mouth in presence of a stiff elbow

• Operative

  • hand centralization

    • indications

      • good elbow motion and biceps function intact 

      • done at 6-12 months of age 

         

      • followed by tendon transfers

    • contraindications

      • older patient with good function

      • patients with elbow extension contracture who rely on radial deviation

      • proximate terminal condition

    • technique

      • involves resection of varying amount of carpus, shortening of ECU, and, if needed, an angular osteotomy of the ulna (be sure to spare ulnar distal physis)

      • may do as two stage procedure in combination with a distraction external fixator

      • if thumb deformity then combine with thumb reconstruction at 18 months of age