Familial hypoparathyroidism may occur as an isolated endocrinopathy or as part of a wider clinical syndrome, including developmental, autoimmune and mitochondrial conditions. Familial forms of hypoparathyroidism can follow autosomal recessive, autosomal dominant and, rarely, X-linked inheritance patterns. Genomic testing can be undertaken if there is a family history, or as part of testing for another condition.

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

Hypochondroplasia is a genetic skeletal condition characterised by short stature, short arms and legs and broad hands and feet.

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.

Noonan syndrome is typically inherited in an autosomal dominant pattern and can present pre- or postnatally with a range of clinical features, including raised nuchal translucency, congenital heart disease, early feeding difficulties, short stature and distinct facial features.

Some neonates and older infants may present with dysmorphic features in combination with one or more major congenital malformations. In such cases, investigation for a genetic condition may be valuable.

A significant proportion of babies or children admitted to neonatal or paediatric intensive care units (NICU or PICU) will have an underlying genetic condition that is responsible for their clinical presentation.

Williams syndrome, caused by a microdeletion on chromosome 7 (position 7q11.23), is a developmental condition characterised by mild to moderate intellectual disability, distinctive facial features and cardiac defects (typically supravalvular aortic stenosis and peripheral pulmonary stenosis).