Fetal abnormalities » Extremities
- 1 in 20,000 births.
- Spectrum of hand and foot defects with missing digits, median cleft and fusion of the remaining digits resulting in clawlike extremities.
- Chromosomal abnormalities: found in trisomy 18.
- High incidence of genetic syndromes. The most common are:
- Roberts syndrome: autosomal recessive; ectrodactyly, phocomelia, facial cleft.
- Ectrodactyly - ectodermal dysplasia (EEC): autosomal dominant; deferomities of all four extremities but more severe in the hands, and ectodermal defects (dry skin, sparse hair, dental defects and defects of the tear ducts).
- Nager syndrome: autosomal dominant but in most cases de novo mutations; ectrodactyly, micrognathia, external ear anomalies.
- Split hand and foot malformation: ectrodactyly presenting as ‘lobster claw’ anomaly.
- Detailed ultrasound examination.
- Invasive testing for karyotyping and array.
- Standard follow-up.
- Consultation by a clinical geneticist.
- Standard obstetric care and delivery.
- Isolated: good prognosis.
- Surgical treatment and physiotherapy reduce functional impairment of the hands.
- Isolated familial: 50%.