What is MOPDII?
- A form of dwarfism
- Prevalence unknown, however considered very rare
- Occurs as a result of mutation in the PCNT gene
- Adult height ranges from 20 inches to 40 inches
Diagnosis of MOPDII
- After birth by:
- Historical records
- X-rays
- Observation of common physical characteristics
What are common characteristics of MOPDII?
- Short stature
- Small head size
- Abnormal hip development (hip dysplasia)
- Spine curvature (scoliosis)
- Thinning of arm and leg bones
- high pitched voice
- Indentifiable facial features e.g. prominent nose, full cheeks, long mid-face and small jaw
- Small teeth
- Pigmentation of the skin
*Please be aware, not all of the characteristics may be present*
Other information about MOPDII
- Intelligence is considered average
- Individuals may have blood vessel abnormalities (Moyamoya disease)
- Would need regular health checks but can lead a healthy lifestyle
- Can affect boys and girls equally
Genetics of MOPDII
- The exact inheritance pattern is unknown, however it is consider to be an autosomal recessive pattern
Additional reading about MOPDII
- Genetics Home Reference - MOPDII
- National Organisation for Rare Disorders - MOPDII
- Nemours
- Orpha.Net
- OMIM
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*