Microcephalic osteodysplastic primordial dwarfism type II

From WikiMD's Wellness Encyclopedia
Microcephalic osteodysplastic primordial dwarfism type II
Synonyms MOPD II
Pronounce N/A
Specialty N/A
Symptoms Microcephaly, osteodysplasia, dwarfism
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis N/A
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic disorder characterized by microcephaly, osteodysplasia, and dwarfism. It is one of the primordial dwarfism conditions, which are a group of disorders that result in severe growth retardation and skeletal abnormalities.

Signs and Symptoms[edit | edit source]

Individuals with MOPD II typically present with:

Genetics[edit | edit source]

MOPD II is caused by mutations in the PCNT gene, which provides instructions for making a protein called pericentrin. This protein is involved in the organization of microtubules during cell division. Mutations in the PCNT gene disrupt normal cell division, leading to the features of MOPD II.

Diagnosis[edit | edit source]

Diagnosis of MOPD II is based on:

Management[edit | edit source]

There is no cure for MOPD II, and management focuses on supportive care:

Prognosis[edit | edit source]

The prognosis for individuals with MOPD II varies. While some may have a relatively normal lifespan, others may experience complications such as vascular issues that can impact longevity.

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD