Synonym(s): - Léri-Weill syndrome
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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C537119
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SHOX	O15266	312865

- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Autosomal dominant inheritance
- Broad nose / nasal bridge
- Clinodactyly of fifth finger
- Cone epiphyses / epiphysis
- Depressed nasal bridge
- Enlarged diaphysis / diaphyses
- Epiphyseal anomaly
- Exostoses
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Madelung's deformity
- Mesomelic micromelia
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Patella absent / abnormal (excluding luxation)
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wrist / carpal anomalies

- Brachycephaly / flat occiput
- Elbow dislocation
- Genu valgum