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Microcephalic osteodysplastic primordial dwarfism type II
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a rare genetic condition characterized by severe growth restriction starting before birth and distinct skeletal and vascular abnormalities.

Overview

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is characterized by short stature (dwarfism), skeletal abnormalities (osteodysplasia), and an unusually small head size (microcephaly). Growth problems begin before birth (intrauterine growth retardation), and individuals continue to grow at a very slow rate after birth.

Symptoms

  • Skeletal Abnormalities: Hip dysplasia, thinning of arm and leg bones, abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones.
  • Physical Features: High-pitched nasal voice, prominent nose, full cheeks, long midface, small jaw, and small teeth (microdontia).
  • Vascular Issues: Increased risk of aneurysms in the brain and Moyamoya disease (narrowing of arteries at the base of the brain), which can lead to stroke.
  • Cognitive Development: Despite having an adult brain size comparable to a 3-month-old infant, intellectual development is typically normal.

Causes

MOPDII is caused by mutations in the PCNT gene, which provides instructions for the protein pericentrin. This protein is located in centrosomes, which are essential for cell division and the assembly of microtubules. Mutations lead to nonfunctional pericentrin, which disrupts the cell cycle and cell division, resulting in a reduced number of cells and the physical signs of the condition.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not show signs of the condition.

Frequently Asked Questions

Ultrasound findings of intrauterine growth restriction (IUGR) with a small abdominal circumference, followed by a persistently low birth weight and a head circumference below the 3rd percentile, raise suspicion. Postnatal clues include a very small head, short limbs, and a high‑arched palate. Early referral to a genetics specialist is advised. What vascular complications are most common in MOPDII and how should they be monitored?::Patients are at increased risk for intracranial aneurysms and Moyamoya disease. Regular neuroimaging—MRI/MRA every 1–2 years—helps detect arterial narrowing or aneurysm formation. If symptoms such as headaches or transient neurological deficits arise, urgent imaging and neurology consultation are warranted. What orthopedic interventions are recommended for hip dysplasia and scoliosis in MOPDII?::Early orthopedic evaluation is key. For hip dysplasia, closed reduction and bracing may be attempted; if unsuccessful, surgical procedures like osteotomy or total hip replacement may be considered later in life. Scoliosis is monitored with serial X‑rays; bracing is used for curves 40° or those causing pain. How does MOPDII affect cognitive development and what support can families provide?::Despite a small brain size, most individuals reach normal intellectual milestones. Early intervention services—speech therapy, occupational therapy, and individualized education plans—support language and motor skills. Regular developmental assessments help tailor therapies, and counseling can address any learning challenges that arise.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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