Rhizomelic chondrodysplasia punctata
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
| Rhizomelic chondrodysplasia punctata | |
| ICD-10 | Q77.3 |
|---|---|
| ICD-9 | 277.86 |
| OMIM | 215100 222765 600121 |
| DiseasesDB | 31410 |
| MeSH | D018902 |
Overview
Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia.
Historical Perspective
Classification
- Type 1 is associated with PEX7
- Type 2 is associated with DHAPAT
- Type 3 is associated with AGPS (gene)
Pathophysiology
Causes
Differentiating Rhizomelic chondrodysplasia punctata from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
See also
External links
References