Hereditary hypophosphataemic rickets is a genetically heterogeneous condition. It is caused by pathogenic variants in one of several genes involved in phosphate metabolism, and is commonly inherited in an X-linked dominant pattern due to a pathogenic variant in the PHEX gene.

Skeletal dysplasia is the name of a broad group of genetic conditions that present in many different ways, including short stature (proportionate or disproportionate), atypical bone density (increased or decreased), fractures and structural bony anomalies (such as bony growths or bowing).

Hereditary multiple exostoses is one of several rare genetic conditions that can present with short stature and bony growths in childhood.

Achondroplasia is the most common cause of disproportionate short stature. This resource relates to suspected achondroplasia in the postnatal setting.

SHOX deficiency is a genetic condition caused by haploinsufficiency of the SHOX gene, resulting in short stature with marked shortening of the forearm and lower legs. Some individuals also develop an anomaly at the wrist called a Madelung deformity.

Osteogenesis imperfecta is a heterogeneous bone fragility condition characterised by fractures, bowing, blue sclera, abnormal dentition and hypermobility.

Macrocephaly is defined as a head circumference over three standard deviations (3SD) above the mean for the patient’s age. In some affected children, there may be an underlying genomic cause.

Hypophosphatasia is a rare genetic condition characterised by impaired mineralisation of bones and teeth, which results in bones that are soft and prone to fracture and deformity.

There will be a genetic cause for some cases of intrauterine death (IUD) or stillbirth.