Synonym(s): - SPENCD - Spondyloenchondromatosis - Spondylometaphyseal dysplasia with enchondromatous changes
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C535782
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ACP5	P13686	171640

- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Enchondroses
- Kyphosis
- Lordosis
- Metaphyseal anomaly
- Rhizomelic micromelia
- Short stature / dwarfism / nanism

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Epiphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality