Microcephalic osteodysplastic primordial dwarfism type 1

Disease Overview

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability.[4647] It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner.[4648] Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life.[4647] MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.[4647]

Synonyms

• MOPD 1
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3
• Osteodysplastic primordial dwarfism type I
• Brachymelic primordial dwarfism
• Taybi-Linder syndrome
• Primordial microcephalic dwarfism, Crachami type
• Cephaloskeletal dysplasia
• Low-birth-weight dwarfism with skeletal dysplasia