Disproportionate short stature

Dr. Moinul Islam
Associate Professor of Endocrinology
Dhaka Medical College and Hospital
Dhaka, Bangladesh

Abstract

Short stature (SS) is one of the most common cause of referral to the endocrinology clinic. It is defined as height below 3rd percentile or less than two standard deviations (SDs) below the median height for that age and sex according to the population standard. All most 3% of all children of worldwide are found to be short, among them half of them will be physiological and half will be pathological. Pathological short stature may also be classified as proportionate or disproportionate. But unlike proportionate short stature, disproportionate short stature till now remains as an area of under focused. Disproportionate short stature is characterized by one or more body parts being relatively large or small: Short limb conditions (achondroplasia, hypochondroplasia), Short trunk conditions (spondyloepiphyseal dysplasia). The condition is typically caused by one or more genetic disorders that affects the development of bone and cartilage and undermines physical growth. As an experts of growth disorders, endocrinologists receive a large majority of the referrals for all forms of short stature. This includes patients with recognized or undiagnosed skeletal dysplasias. But there is scarcity of evidenced base guideline to evaluate the disproportionate short stature. So sometimes it is not uncommon that the term “skeletal dysplasia” elicit a diagnostic dilemma to the physician. The intent of this speech is to dispel any enigma and provide a practical approach for the evaluation and management of suspected cases of disproportionate short stature.

Keywords: Short stature, disproportionate, achondroplasia, skeletal dysplasia