What is Microcephalic Osteodysplastic Primordial Dwarfism Type I/III?
- A form of dwarfism
- Prevalence unknown, however considered very rare
- Thought to occur as a result of mutation in the RNU4ATAC gene
Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- After birth by:
- Historical records
- X-rays
- Observation of common physical characteristics
What are common characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III?
- Short stature
- Small head size
- Short limbs
- Abnormal bone growth
- Identifiable facial features
- Sparse hair
- Seizures
*Please be aware, not all of the characteristics may be present*
Other information about Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- Intelligence may be affected
- Life expectancy is limited
- Can affect boys and girls equally
Genetics of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- The exact inheritance pattern is unknown, however it is consider to be an autosomal recessive pattern
Additional reading about Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- National Organisation for Rare Disorders - MOPD I/III
- Nemours
- Orpha.Net
- OMIM
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*
