/microcephalic osteodysplastic primordial dwarfism types I and III

microcephalic osteodysplastic primordial dwarfism types I and III

Rare Disease

MONDO:0016994

Also Known As

MOPD types I and IIImicrocephalic osteodysplastic primordial dwarfism, Taybi-Linder typeprimordial microcephalic dwarfism, Crachami typeTaybi-Linder syndromeMOPD 1brachymelic primordial dwarfismcephaloskeletal dysplasialow-birth-weight dwarfism with skeletal dysplasiamicrocephalic osteodysplastic primordial dwarfism type 1microcephalic osteodysplastic primordial dwarfism types 1 and 3osteodysplastic primordial dwarfism type I

Definition

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.