What is Acromesomelic Dysplasia?
- A form of dwarfism (skeletal dysplasia)
- Affects cartilage and bone development
- Mainly affects the forearms, lower legs and bones in the hands and feet
- Thought to be 5 subdivisions
- Acromesomelic dysplasia, Maroteaux type
- Acromesomelic dysplasia, Osebold-Remondini type
- Acromesomelic dysplasia with genital anomalies
- Fibular hypoplasia and complex brachydactyly (Du Pan syndrome)
- Grebe dysplasia (including Hunter-Thompson type)
- Average height of an adult is unknown, however it is thought to be below 120cm
- Exact incidence is unknown
- Mutation causing Acromesomelic Dysplasia differs between the different types
- Maroteaux type: chromosome 9 (locus 9p13-12)
- Grebe dysplasia and Du Pan syndrome: chromosome 20 (locus 20q11.2).
- Acromesomelic dysplasia with genital anomalies: maps to 4q23-24.
- Osebold-Remondini type has not been genetically mapped yet
Diagnosis of Acromesomelic Dysplasia
- Before birth by:
- Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis.
- After birth by:
- Observation of common physical characteristics
- X-rays
What are common characteristics of Acromesomelic Dysplasia?
- Short stature
- Short limbs, hands and feet
- Broad hands and feet
- Faicial features e.g. larger head, prominent forhead
- Progressive artiritus
- Spinal curvature (lower thoracic kyphosis and/or lumbar hyperlordosis)
*Please be aware, not all of the characteristics may be present*
Other information about Acromesomelic Dysplasia
- Life expectancy is not affected
- Intelligence is not affected
- Affects boys and girls equally
Genetics of Acromesomelic Dysplasia
- Most forms of Acromesomelic Dysplasia have an autosomal recessive inheritance pattern
- Acromesomelic dysplasia, Osebold-Remondini type is thought to have a dominant inheritance pattern
Additional reading about Acromesomelic Dysplasia
- National Organisation for Rare Disorders - Acromesomelic Dysplasia
- WebMD
- OMIM
- Orpha.Net
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*