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Phocomelia Re-Examined Using the CoULD Registry.

Lindley B Wall¹, Sarah Ishamuddin¹, Suzanne Steinman²

¹Department of Orthopaedic Surgery, Washington University School of Medicine, Saint Louis, MO.

The Journal of Hand Surgery

|September 8, 2025

Summary

This summary is machine-generated.

True phocomelia is rare. Most severe upper limb differences can be reclassified as ulnar or radial longitudinal dysplasia, aiding accurate diagnosis and care.

Keywords:

Phocomelia radial longitudinal deficiency registry ulnar longitudinal deficiency

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Area of Science:

Medical research
Orthopedics
Genetics

Background:

Phocomelia is an intercalary segmental dysplasia of the upper limb.
Previous studies suggested some phocomelia cases were severe longitudinal deficiencies.

Purpose of the Study:

To evaluate current cases diagnosed with phocomelia.
To determine if these cases represent true phocomelia or other limb differences.

Main Methods:

Reviewed 23 extremities diagnosed with phocomelia from the Congenital Upper Limb Differences Registry.
Examined radiographs, clinical images, and medical histories.
Excluded cases with clavicle dysplasia and compared with Type V ulnar or radial longitudinal dysplasia.

Main Results:

All 23 extremities were reclassified as either ulnar longitudinal dysplasia (18 cases) or radial longitudinal dysplasia (5 cases).
No true cases of phocomelia were identified in this cohort.
Severe limb dysplasias were classified using associated syndromes, contralateral limb diagnosis, lower limb involvement, and hand/digit patterning.

Conclusions:

True phocomelia is rare; most severe upper limb dysplasias are ULD or RLD.
Accurate classification is crucial for clinical care, identifying comorbidities, and family counseling.
Reassessment of presumed phocomelia cases for ULD/RLD ensures appropriate medical evaluation.