Prevalence:

• 1 in 30,000 births.
• Bilateral in 50% of cases.

Ultrasound diagnosis:

• Clubhand deformities are subdivided into radial and ulnar:
  • Radial clubhand: radial aplasia, acute radial deviation of the hand and absent or hypoplastic thumb.
  • Ulnar clubhand: ranges from mild deviation of the hand on the ulnar side of the forearm to complete absence of the ulna.

Associated abnormalities:

• Ulnar clubhand is usually an isolated anomaly, whereas, radial clubhand is frequently syndromatic:
  • Trisomy 18: radial clabhand is a common finding in this chromosomal abnormality.
  • Thrombocytopenia - absent radius (TAR) syndrome: radial aplasia, thumb present, heart defects, micrognathia.
  • Holt - Oram syndrome: radial aplasia, syndactyly, heart defects.
  • Roberts syndrome: radial aplasia, phocomelia, facial cleft, heart defects.
  • VACTER association: radial aplasia or hypoplasia, vertebral abnormalities, ventricular septal defect, tracheoesophageal fistula, anal atresia, renal defects, and single umbilical artery.

Investigations:

• Detailed ultrasound examination.
• Invasive testing for karyotyping and array.

Follow up:

• Follow-up scans every 4 weeks.
• In families with history of TAR syndrome: cordocentesis for diagnosis of hematologic abnormalities.

Delivery:

• Standard obstetric care, but delivery should be in a hospital with neonatal intensive care..

Prognosis:

• Depends on the associated condition.
• Surgical treatment and physiotherapy aim to improve mobility, strength, and stability of the forearm and wrist.

Recurrence:

• Part of trisomy 18: 1%.
• Part of genetic syndromes: 25% or 50%.