Referral Criteria

We welcome samples from any child with undiagnosed short stature (height <-2 SDS or short for parents), especially those with:

• Consanguineous families
• Family history: Affected siblings or parent(s)
• GH or IGF-1 insensitivity phenotypes +/-dysmorphic features (e.g. prominent forehead and triangular shaped face)
• Features suggestive of an underlying syndromic condition (e.g. facial dysmorphisms, congenita malformations, neurodevelopmental disorders)
• Body disproportion (sitting height/ height or arm span/height outside +/- 2.5 SDS)
•  Macrocephaly/ microcephaly (absolute or relative)
• Small for gestational age (SGA) with persistent short stature
• Clinical or radiographic skeletal abnormalities

We do not routinely investigate children with a diagnosis of isolated GH insufficiency. 

We offer genetic analysis free of charge. For genetic testing we require blood or DNA samples from your patient and parents. We also require completed consent form(s) and clinical, auxological and biochemical information. Please contact Prof Storr (helen.storr@nhs.net) to discuss the referral and access the referral form.