Assessment of short stature

Last reviewed: 23 Jan 2025
Last updated: 17 Jul 2024

Summary

Differentials

Common

  • Familial short stature (genetic short stature)
  • Constitutional delay of growth and development
  • Idiopathic short stature
  • Small for gestational age (SGA) without catch-up growth by 2 years of age
Full details

Uncommon

  • Growth hormone (GH) deficiency
  • Hypothyroidism
  • Cushing syndrome
  • GH insensitivity (Laron syndrome)
  • Craniopharyngioma
  • Turner syndrome
  • Noonan syndrome
  • Russell-Silver syndrome
  • Trisomy 21
  • Prader-Willi syndrome (PWS)
  • DiGeorge syndrome (velocardiofacial syndrome)
  • Coeliac disease
  • Cystic fibrosis (CF)
  • Asthma (moderate or severe)
  • Chronic heart disease (congenital or acquired)
  • Diabetes mellitus
  • Chronic kidney failure
  • Juvenile idiopathic arthritis (JIA)
  • Crohn's disease
  • Ulcerative colitis
  • Malignancy
  • Renal tubular acidosis
  • Rickets
  • Skeletal dysplasias (e.g., achondroplasia, hypochondroplasia, osteogenesis imperfecta)
  • Spinal disorders (irradiation, surgery, congenital deformities)
  • Psychosocial deprivation (abuse, neglect, starvation, institutionalisation)
  • Anorexia nervosa
  • Bulimia nervosa
  • Fetal alcohol syndrome
  • Stimulant medications for ADHD
Full details

Contributors

Authors

Renee Bargman, MS, MD
Renee Bargman

Pediatric Endocrinology

NYC Health and Hospitals/SUNY Downstate Medical Center

Brooklyn

NY

Disclosures

RB declares that she has no competing interests.

Acknowledgements

Dr Renee Bargman would like to gratefully acknowledge Dr Maria Vogiatzi, a previous contributor to this topic.

Peer reviewers

Ian Marshall, MD

Chief of the Division of Pediatric Endocrinology

Assistant Professor

UMDNJ-Robert Wood Johnson Medical School

New Brunswick

NY

Disclosures

IM declares that he has no competing interests.

Raphael David, MD

Professor of Pediatrics

Director

Pediatric Endocrinology

New York University Medical Center

New York

NY

Disclosures

RD declares that he has no competing interests.

  • Assessment of short stature images
  • Guidelines

    • Diagnosis, genetics, and therapy of short stature in children: a Growth Hormone Research Society international perspective
    • Faltering growth: recognition and management of faltering growth in children
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer