Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C535661
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
NPR2	P20594	108961

- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dolichocephaly / scaphocephaly
- Frontal bossing / prominent forehead
- Hyperextensible joints / articular hyperlaxity
- Kyphosis
- Lordosis
- Mesomelic micromelia
- Restricted joint mobility / joint stiffness / ankylosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Short hand / brachydactyly
- Short stature / dwarfism / nanism