Short stature is defined as a standing height of more than 2 standard deviations (SDs) below the mean (or below the 2.5 percentile) for the population at a given age.
The causes can be divided into 4 broad categories –
Chronic disease – It includes under-nutrition and genetic disorders. The most common genetic disorders include Down syndrome, Turner syndrome, Leri-Weill dyschondrosteosis, Achondroplasia…
Familial short stature – Hallmark feature includes bone age-appropriate for chronological age, normal growth velocity, and predicted adult height appropriate to the familial pattern.
Constitutional delay of growth and development – It is characterized by delayed bone age, normal growth velocity, and predicted adult height appropriated to the familial pattern.
Short stature due to endocrinal diseases – Hallmark feature is linear growth failure that occurs to a greater degree than weight loss.
Proportionate short stature – When the upper segment and lower segment body ratio is normal then it is termed as proportionate short stature. Example – Fasciodigitogenital syndrome, Spondyloepimetaphyseal dysplasia with abnormal dentition, spondyloepiphyseal dysplasia Kimberley type
Disproportionate short stature – When the upper segment and lower segment body ration is altered then it is termed as disproportionate short stature. The disproportion is commonly referred to as short trunk or short limb.
Disproportionate short trunk short stature – Achondrogenesis type IA, Achondrogenesis type II, Autosomal recessive spondyloepimetaphyseal dysplasia,Kniest dysplasia, Mucopolysaccharidosis type VI, Mucopolysaccharidosis type IV, Spondyloepiphyseal dysplasia, spondyloepimetaphyseal dysplasia X –linked, Spondylometaphyseal dysplasia Kozlowski type.
The short limb types are further subdivided into categories based on which segment of the limb is short.
Rhizomelic shortening – Shortening of the proximal segment of the limb. Example – Achondroplasia, Hypochondroplasia, Dyschondrosteosis, Robinow…
Mesomelic shortening – Shortening of the mid-portion of the limb. Example – Dyschndrosteosis nephritis, Goldblatt hypertension, Langer mesomelic dysplasia syndrome, Mesomelic dwarfism of hypoplastic tibia and radius type, Nievergelt syndrome
Acromelic shortening – Shortening of the distal segment of the limb. Example – Spondyloephiphyseal dysplasia-brachydactyly and distinctive speech
Short limbs and trunk (may or may not be disproportionate) –
Pseudoachondroplasia, diastrophic dysplasia, metatropic dysplasia, Kniest, Ellis van Creveld
The clinical examination which includes an assessment of height, upper – lower segment ratio, and the skeletal survey will aid in diagnosis.
And also the laboratory studies are used to assess the major causes of short stature in children. It includes the following –
Measurement of serum levels of insulin-like growth factor – I (IGF-I).
Karyotype by G-banding.
Measurement of serum levels of growth hormone (GH).
Medical management depends on the cause of short stature.
Recombinant human growth hormone (rhGH)- Classical growth hormone deficiency
Treatment of hypothyroidism at least 5 years before the onset of puberty is essential to attain a height consistent with the genetic potential
Surgical care depends on the underlying causes of short stature.
Brian tumors – Need neurosurgical intervention
Limb lengthening procedures