Autozomálně recesivní
Caused by changes in both copies of TRIP11, which encodes GMAP-210, a Golgi protein needed to process proteins in cartilage cells. Complete loss of function causes achondrogenesis type 1A, while changes leaving some function cause the milder odontochondrodysplasia.
Příznaky a projevy
Achondrogenesis type 1A causes severely short arms and legs, a narrow chest and poor bone formation in the skull and spine before birth, and most affected babies do not survive. Odontochondrodysplasia causes skeletal changes in the spine and in the growth regions of the bones, together with discoloured, fragile teeth resembling dentinogenesis imperfecta. Changes in the spine are also described.
Co se diagnózou změní
In odontochondrodysplasia, care includes orthopaedic and dental review. In achondrogenesis, prenatal diagnosis allows families to make informed choices. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Zahrnuje 4 příbuzných podtypů ↓Skrýt podtypy ↑
- achondrogenesis type IA
- odontochondrodysplasia
- odontochondrodysplasia 1
- odontochondrodysplasia 2 with hearing loss and diabetes
