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microcephalic osteodysplastic primordial dwarfism types I and III

Disease Summary
Associated Targets ()

Mondo Description Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
Mondo Term and Equivalent IDs
MONDO:0016994:  microcephalic osteodysplastic primordial dwarfism types I and III
GARD:0005120: 
Orphanet:2636: 
SCTID:725461009: 
UMLS:CN202308: