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Hyperphagic short stature is a behavioural disease associated with linear growth failure, secondary to growth hormone insufficiency. The syndrome was first described in the 1960s when it was grouped under the term psychosocial short stature.[1, 2]
Hyperphagia may be defined as an excessive and abnormal appetite for food. This is accompanied by an apparent lack of satiety and frequently eating to the point of vomiting or abdominal pain.
The syndrome is rare and part of a small group of behavioural phenotypes associated with a physiological mechanism.
- Hyperphagic short stature is strongly associated with poor environmental and social conditions.
- The most common source of psychosocial stress for children with the syndrome is intrafamilial abuse. Familial studies suggest a genetic predisposition to the disease but a specific genetic defect has not been demonstrated.
- It has an increased prevalence amongst children in foster care.
Commonly reported during infancy are:
Hyperphagia does not occur until the approximate age of three years and is associated with polydipsia. Symptoms of depression, sleep cycle disturbance and self injury (such as skin picking) also occur.
- The height for age is below the third centile, between 85% and 90% of expected height for age. Growth is often at a low normal rate parallel to the centile line. Head circumference is usually in proportion.
- Hyperphagic short stature is associated with learning disabilities.
- Affected children are frequently overactive and maintain a body mass index within the normal range despite overeating.
- There is often history of wandering around the home at night in search of food. Food is often hoarded, usually in the child's room.
This is a congenital condition due to an anomaly at chromosome 15. It shares many of the characteristics of hyperphagic short stature. However, in contrast to hyperphagic short stature, Prader-Willi syndrome is associated with an obese body mass index, lethargy and more severe learning disabilities.
- Standard behavioural measures can be used to detect hyperphagia and polydipsia - the major characteristic behavioural features of hyperphagic short stature.
- The syndrome is also associated with growth hormone insufficiency.
- Hyperphagia and sleep disruption resolve rapidly if the child's living conditions are improved.
- This is associated with a rapid increase in growth hormone to normal levels.
- If improvements are maintained, growth rates will also improve over a longer period of time.[1, 2]
- The psychosocial stress associated with, and generated by, hyperphagic short stature will require multidisciplinary support for the family and child.
Further reading and references
Powell GF, Brasel JA, Raiti S, et al; Emotional deprivation and growth retardation simulating idiopathic hypopituitarism. II. Endocrinologic evaluation of the syndrome. N Engl J Med. 1967 Jun 8276(23):1279-83.
Powell GF, Brasel JA, Blizzard RM; Emotional deprivation and growth retardation simulating idiopathic hypopituitarism. I. Clinical evaluation of the syndrome. N Engl J Med. 1967 Jun 8276(23):1271-8.
Skuse D, Albanese A, Stanhope R, et al; A new stress-related syndrome of growth failure and hyperphagia in children, associated with reversibility of growth-hormone insufficiency. Lancet. 1996 Aug 10348(9024):353-8.
Gilmour J, Skuse D, Pembrey M; Hyperphagic short stature and Prader--Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress. Br J Psychiatry. 2001 Aug179:129-37.
Tarren-Sweeney M; Patterns of aberrant eating among pre-adolescent children in foster care. J Abnorm Child Psychol. 2006 Oct34(5):623-34.
I agree that there is very little information about this condition. I was born with it and apparantly spent 2 months in an incubator. I would like more information on possible life long problems as a...Guest
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