ORPHA:3101
Richieri Costa-da Silva syndrome
Also called Myotonia-intellectual disability-skeletal anomalies syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Not documented in Orphadata
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:3101 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Pectus carinatum
- Intellectual disability, profound
- Kyphoscoliosis
- Short stature
- Generalized bone demineralization
- Intermittent painful muscle spasms