Description: Achondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characteristic features of achondroplasia are apparent at birth. These include typical facial features, disproportionate short stature, and rhizomelic (the proximal ends of the limbs) shortening. Diagnosis of achondroplasia is made by physical exam and skeletal x-rays. Most individuals have normal intelligence. Infants and children often have motor delays but cognitive delays are not present. A special infant developmental chart has been made for children with achondroplasia. Final adult height is in the range of 4 feet.
What is achondroplasia? What are the characteristics of achondroplasia? How is achondroplasia diagnosed? What can be done for patients with achondroplasia? How is achondroplasia inherited? What if someone with Achondroplasia has children? What if two people with achondroplasia have children? What gene causes achondroplasia? What is the molecular story with achondroplasia? Achondroplasia At A Glance
Source/Author: Geneva Foundation for Medical Education and Research
Web-based (medical)
X-rays and photographs of individuals with achondroplasia. Also shows photographs and x-rays of SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
Source/Author: Children's Hospital of the King's Daughters
Web-based (lay)
Discusses: What is achondroplasia? What causes achondroplasia? What are the symptoms of achondroplasia? How is achondroplasia diagnosed? Treatment of achondroplasia.
Source/Author: Scott, Charles; Alfred I. dupont Hospital for Children/Nemours
Medical Review
Excellent overview of achondroplasia including: how it happens, its genetics, physical features, diagnosis, medical management, social aspects, physical accommodations,etc.
Chart showing the growth of the foramen magnum by age. With lines for the foramen magnum in average statured children and in children with achondroplasia.
Head circumference chart for males with achondroplasia compared to normal curves (dashed lines). Measurements must be made in/converted to centimeters.
Head circumference growth chart for girls with achondroplasia compared to normal curves (dashed lines). Measurements must be made in/converted to centimeters.
Weight for height growth charts for females with achondroplasia. Measurements need to be converted to metric (centimeters for height and kilograms for weight).
Weight for height growth charts for males with achondroplasia. Measurements need to be converted to metric (centimeters for height and kilograms for weight).
Discussion of sporadic occurrence of achondroplasia more than 1 time within families. Full text medical article available by contacting medical@lpaonline.org
Medical Journal article written by the pediatric neurosurgery team at Johns Hopkins about their experience with foramen magnum stenosis in achondroplasia and the surgical intervention of decompression.
Source/Author: Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.; Am J Med Genet. 1999 Jun 11;84(5):401-5.
Abstract
Case report of prenatal diagnosis of parents, one with achondroplasia and one with hypochondroplasia, and their child who inherit genetic mutations for both conditions.
Source/Author: AMERICAN ACADEMY OF PEDIATRICS, Committee on Genetics
Full text
Policy Statement. Set of guidelines is designed to assist the pediatrician. Discusses: Diagnosis and overview of Achondroplasia. The Prenatal Visit. Health Supervision for Newborns; Health Supervision in Infancy; Health Supervision in Early Childhood; Health Supervision in Late Childhood; Health Supervision Adolescence/Early Adulthood. NEWLY UPDATED 09/2005.
Source/Author: Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB.; Prenat Diagn. 2002 Oct;22(10):933-40.
Abstract
A study to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia in individuals and families with achondroplasia.
Source/Author: Gollust SE, Thompson RE, Gooding HC, Biesecker BB.; Prenat Diagn. 2003 Dec 15;23(12):1003-8.
Abstract
The study assessed attitudes toward prenatal screening for achondroplasia and correlation with quality of life in a population of individuals affected with achondroplasia and first-degree relatives.
Review of the various medical complications that can occur with achondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.
Discussion of the neurological complications that can occur in achondroplasia due to skeletal abnormalities of the vertebrae and the base of the skull.
Source/Author: Langer LO Jr, Schaefer GB, Wadsworth DT.
Abstract
Case report of a patient with achondroplasia and pseudoachondroplasia. Also discussed the relationship between pseudoachondroplasia and MED, Fairbank type.
Source/Author: Dror Paley, M.D., Associate Professor of Orthopedic Surgery, University of Maryland Medical Center, Baltimore and Charles I. Scott Jr., M.D., Chief, Division of Medical Genetics, Alfred duPont Institute Wilmington, Del.; Medical Advisory Board
Web-based (lay)
Arguments for and against extensive limb lengthening in individuals with achondroplasia.
Source/Author: Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA.
Abstract
Article on ways for parents to work with children with achondroplasia in order to prevent fixed kyphosis which can often require surgical intervention.
Full article available by contacting: medical@lpaonline.org.
Source/Author: Owen, OE, Smalley KJ, D'Alessio DA, Mozzoli MA, Knerr AN, Kendrick ZV, Kavle EC, Donohoe M, Tappy L, Boden G
Abstract
Article discussing the difficulties of getting appropriate values needed to determine appropriate weight, BMI, fat vs. muscle mass, etc in achondroplastic dwarfs.
Source/Author: Rump P, Letteboer TG, Gille JJ, Torringa MJ, Baerts W, van Gestel JP, Verheij JB, van Essen AJ.
Full text
Case report of a child with achondroplasia that has 2 mutations for achondroplasia within the same FGFR3 gene and resulting in a more severe condition that typical achondroplasia.
Source/Author: JOSEPH KIESLER, M.D., and RICK RICER, M.D.
Full Text
Article on abnormalities in the fontanel. Discusses that in achondroplasia a large anterior fontanel and/or delayed fontanel closure are to be expected. Also indicates that a bulging anterior fontanel can be an indicator of increased intracranial pressure.
Source/Author: Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT
Abstract
Medical journal article on trying to determine the prevalence of achondroplasia and thanatophoric dysplasia (how often babies are born with these conditions in different parts of the U.S.)
To Celebrate: Understanding Developmental Differences in Young Children with Achondroplasia
Source/Author: Richard M. Pauli, MD, PhD, Peggy Modaff, MS, Eric Fowler, MS, Catherine Reiser, MS
Resource
Booklet created by the Midwest Regional Bone Dysplasia Clinic for families with children with achondroplasia. Illustrates the many ways in which a achondroplastic child's development may vary from that of most average statured children.
Discusses: What Are Growth Disorders? Human Growth Hormone (HGH) Deficiency, Cushing's Syndrome (Cortisol, Stress, Hormone Excess), Hypothyroidism, Nutritional Short Stature, Intrauterine Growth Retardation ("IUGR"), Russell Silver Syndrome, Disproportionate Short Stature, Achondroplasia, Growth Related Disorders, Poor Nutrition and Systemic Diseases, Bone Disorders
Source/Author: Paul Sponseller, M.D., Michael Ain, M.D., Nancy Miller, M.D., Michael Bahk, MSIV, Dept. of Orthopedic Surgery, Johns Hopkins University
Web-based (lay)
Overview. Discusses: What is achondroplasia? What causes achondroplasia? What are the signs and symptoms of achondroplasia? What are the different types of achondroplasia? What is the treatment of achondroplasia? Should my child see a doctor regularly? How will be child do in the long run with achondroplasia?
Source/Author: Joo-Hee Grace Park, DO; Robert Wallerstein, MD
Full text
Includes charts. Discusses: INTRODUCTION: Background, Pathophysiology, Frequency, Mortality/Morbidity, Race, Sex; CLINICAL: History, Physical, Causes; DIFFERENTIALS: Other Problems to be Considered; WORKUP: Lab Studies, Imaging Studies; TREATMENT: Medical Care, Surgical Care, Consultations, Diet; MEDICATION; FOLLOW UP: Further Outpatient care, Complications, Prognosis, Patient Education; MISC: Medical Pitfalls, Pregnancy
Source/Author: Source of text: Information Guide to Persons of Short Stature, edited by Stephen Pinnell, pp. 2-4
Web-based (medical)
Description of various conditions that cause short stature including Achondroplasia, Hypochondroplasia, Multiple Epiphyseal Dysplasia, Spondyloepiphyseal Dysplasia, Pseudoachondroplasia, Pituitary, Metatropic Dwarfism, Diastrophic dysplasia, Mucopolysaccharide diseases.
