Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Rhizomelic chondrodysplasia punctata
Introduction
Overview
Overview
Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia.
Historical Perspective
Historical Perspective
Classification
Classification
- Type 1 is associated with PEX7
- Type 2 is associated with DHAPAT
- Type 3 is associated with AGPS (gene)
Pathophysiology
Pathophysiology
Causes
Causes
Differentiating Rhizomelic chondrodysplasia punctata from Other Diseases
Differentiating Rhizomelic chondrodysplasia punctata from Other Diseases
Epidemiology and Demographics
Epidemiology and Demographics
Risk Factors
Risk Factors
Screening
Screening
Natural History, Complications, and Prognosis
Natural History, Complications, and Prognosis
Diagnosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment
Medical Therapy
Surgery
Prevention
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: