Dwarfism |
ACH; Achondroplasia; Chondrodystrophia; Chondrodystrophy syndrome; Congenital osteosclerosis; Dwarf, achondroplastic; Osteosclerosis congenita |
Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres). Incidence/Prevalence It occurs at a frequency of about 1 in 20,000 to 1 in 40,000 births. Clinical features Clinical features of the disease: nonproportional dwarfism (short stature) shortening of the proximal limbs (termed rhizomelic shortening) short fingers and toes a large head with promine ...
Wikipedia - [full article]
Resources
- Achondroplasia (Google Health)
- Achondroplasia (March of Dimes Birth Defects Foundation)
- ClinicalTrials.gov: Dwarfism (National Institutes of Health)
- Dwarfism (Nemours Foundation)
- Dwarfism
- Dwarfism (Medline Plus)
- Dwarfism Resources: Frequently Asked Questions (Little People of America)
- Dwarfism Types and Definitions (Little People of America)
- Genes and Disease: Diastrophic Dysplasia (National Center for Biotechnology Information)
- Genes and Disease: Ellis-Van Creveld Syndrome (National Center for Biotechnology Information)
- Genetics Home Reference: Achondrogenesis, type II (National Library of Medicine)
- Genetics Home Reference: Achondroplasia (Genetics Home Reference)
- Genetics Home Reference: Collagenopathy, types II and XI (Genetics Home Reference)
- Genetics Home Reference: Hypochondrogenesis (Genetics Home Reference)
- Genetics Home Reference: Hypochondroplasia (Genetics Home Reference)
- Genetics Home Reference: Kniest dysplasia (Genetics Home Reference)
- Genetics Home Reference: SADDAN (Genetics Home Reference)
- Genetics Home Reference: Spondyloepimetaphyseal dysplasia, Strudwick type (Genetics Home Reference)
- Genetics Home Reference: Spondyloepiphyseal dysplasia congenita (Genetics Home Reference)
- Genetics Home Reference: Thanatophoric dysplasia (Genetics Home Reference)
- Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and (Google Health)
- Little People of America Online (Little People of America)
- Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. (Google Health)
- Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, a (Google Health)
- National Institute of Child Health and Human Development

Not Signed In -

