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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: The neurology of rhizomelic chondrodysplasia punctata

Figure 1

A patient with RCDP type 1. Anterior aspect of a patient with the severe phenotype at age 4 years. The clinical phenotype of RCDP is characterized by facial dysmorphic features, bilateral rhizomelia and arthrogenic contractures. Growth is severely impaired. Patients achieve hardly any developmental milestones.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172