Microcephalic osteodysplastic primordial dwarfism type II
(Redirected from Microcephalic osteodysplastic primordial dwarfism type 2)
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:
- Microcephaly - significantly smaller head size compared to peers
- Osteodysplasia - abnormal bone development
- Dwarfism - short stature
- Facial dysmorphism - distinctive facial features
- Dental anomalies - irregularities in tooth development
- Vascular anomalies - including aneurysms
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:
- Clinical evaluation - assessment of physical characteristics and growth patterns
- Genetic testing - identification of mutations in the PCNT gene
Management[edit | edit source]
There is no cure for MOPD II, and management focuses on supportive care:
- Regular monitoring of growth and development
- Management of complications such as aneurysms
- Multidisciplinary approach involving pediatricians, geneticists, and other specialists
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