ORPHA:163654
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Also called SED-BDS, Spondyloepiphyseal dysplasia, Cantu type, Tattoo dysplasia
- Body system
- Bone diseases
- Inheritance pattern
- Unknown
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:163654 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Cryptorchidism
- Wide mouth
- Abnormal palate morphology
- Thick lower lip vermilion
- Thick upper lip vermilion
- Abnormality of the chin