Search for a rare disease
Other search option(s)
Brachyolmia-amelogenesis imperfecta syndrome
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
ORPHA:2899Classification level: Disorder
A summary on this disease is available in Italiano (2015) Español (2015) Nederlands (2015)
- Clinical practice guidelines
- Français (2021) - PNDS
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.