Fibrodysplasia ossificans progressiva is an ultra-rare, progressive, life-limiting connective tissue disorder in which soft tissue and muscle turns to bone. This results in progressive immobility and difficulty with speaking, swallowing and breathing.

Hereditary multiple exostoses is a rare bone condition caused by a pathogenic genetic variant in one copy of the EXT1 or EXT2 gene.

Short stature is often the presenting feature of skeletal dysplasia conditions, a family of heritable bone conditions.

Hypophosphatasia is a genetic condition that leads to anomalies in the bone and/or tooth mineralisation. There are seven recognised clinical forms of hypophosphatasia, and it can present at any age.

Hypochondroplasia is a form of skeletal dysplasia that usually presents at the age of two and shares similar features with achondroplasia.

Achondroplasia is a form of skeletal dysplasia and is the most common cause of disproportionate short stature.

SHOX-related haploinsuffiency is a rare genetic condition caused by a change in the SHOX gene, which contributes to skeletal development.

Osteogenesis imperfecta is a group of genetic conditions that mainly affects the bones. The bones of affected individuals will fracture easily, often as a result of minor trauma or with no apparent cause.