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: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
IHH	Q14623	600726

- Autosomal recessive inheritance
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

- Abnormal vertebral size / shape
- Absent / small fingernails / anonychia of hands
- Genu varum
- Lordosis
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Narrow rib cage / thorax
- Pectus carinatum
- Pectus excavatum
- Scoliosis
- Short rib cage / thorax