Achondroplasia

 

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.

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Achondroplasia

Source/Author: MedicineNet.Com 

Web-based (lay) 

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

Achondroplasia

Source/Author: Human Growth Foundation

Resource

A booklet written in lay terms providing an excellent overview of achondroplasia. 

Achondroplasia

Source/Author: OMIM Online Mendelian Inheritance in Man 

Web-based (medical)

In medical terms. Discusses: Description; Clinical Features; Inheritance; Mapping; Molecular Genetics; Diagnosis; Clinical Management; Population Genetics; History References; Mini-Mim; Clinical Synopsis

Achondroplasia

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)

Achondroplasia

Source/Author: Philippe Jeanty, MD, PhD & Sandra R Silva, MD 

Web-based (medical)

Case report of prenatal diagnosis of achondroplasia.

Achondroplasia

Source/Author: Radiology Museum, London South Bank University 

Web-based (medical)

Brief description of the radiology of achondroplasia.

Achondroplasia

Source/Author: Richard M Pauli, MD, PhD, GeneReviews 

Web-based (medical)

In medical terms. Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

Achondroplasia

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.

Achondroplasia

Source/Author: Pediatric Orthopaedic Society of North America. 

Web-based (medical)

Discussion on achondroplasia, focusing on orthopedic and treatment issues.

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.

Achondroplasia

Source/Author: Horton WA, Hall JG, Hecht JT 

Abstract 

Review of the molecular genetics of achondroplasia, as well as the natural history and clinical issues of the condition. 

Full article available by contacting medical@lpaonline.org

Achondroplasia

Source/Author: M. le Merrer, M.D.; Orphanet 

Web-based (medical)

Brief overview of the condition plus links to scientific publications, clinical features and web sites.

Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment.

Source/Author: Keiper GL Jr, Koch B, Crone KR. 

Abstract

Achondroplasia and other short stature syndromes

Source/Author: Centre for Genetics Education, Australia 

Web-based (lay)

Overview of skeletal dysplasias in lay terms. Includes discussion of achondroplasia and brief mention of OI and SED tarda

Achondroplasia chart for BMI ages 0-16 years

Source/Author: JE Hoover-Fong et al

Growth chart 

Charts for calculating BMI in children with achondroplasia. This page has separate charts for boys and girls. 

Achondroplasia chart for BMI ages 0-16 with superimposed reference curves for children of average stature

Source/Author: JE Hoover-Fong et al

Growth chart 

Charts for calculating BMI in children with achondroplasia and comparing them to BMIs for children of average stature. This page has separate charts for boys and girls.

Achondroplasia developmental milestones chart

Source/Author: Todorov AB et al 

Growth chart 

Table that gives appropriate timeframes for children with achondroplasia to reach developmental milestones.

Achondroplasia foramen magnum chart

Source/Author: Hecht et al. 

Growth chart 

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. 

Achondroplasia chart for height FEMALE

Source/Author: WA Horton et al 

Growth chart 

Height measurements need to be converted to centimeters.

Achondroplasia chart for height MALE

Source/Author: WA Horton et al 

Growth chart 

Height measurements need to be converted to centimeters.

Achondroplasia chart for head circumference FEMALE

Source/Author: Horton et al 

Growth chart 

Head circumference chart for males with achondroplasia compared to normal curves (dashed lines). Measurements must be made in/converted to centimeters.

Achondroplasia chart for head circumference MALE

Source/Author: WA Horton et al 

Growth chart 

Head circumference growth chart for girls with achondroplasia compared to normal curves (dashed lines). Measurements must be made in/converted to centimeters.

Achondroplasia chart for weight for age 0-36 mos

Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. 

Growth chart

Chart that provides standards for weight for age in children with achondroplasia between 0-36 months of age. Page contains charts for both males and females.

Achondroplasia chart for weight for age 2-16 years

Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. 

Growth chart

Chart that provides standards for weight for age in children with achondroplasia between 2 to 16 years of age. Page contains charts for both males and females.

Achondroplasia chart: weight for height FEMALE

Growth chart

Weight for height growth charts for females with achondroplasia. Measurements need to be converted to metric (centimeters for height and kilograms for weight).

Achondroplasia chart: weight for height MALE

Growth chart

Weight for height growth charts for males with achondroplasia. Measurements need to be converted to metric (centimeters for height and kilograms for weight).

Achondroplasia-hypochondroplasia complex in a newborn infant.

Source/Author: Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.; Am J Med Genet. 1999 Jun 11;84(5):396-400. 

Abstract

Case report of a patient with achondroplasia and hypochondroplasia - prenatally and postnatally.

Achondroplasia-hypochondroplasia complex.

Source/Author: Sommer A, Young-Wee T, Frye T.; Am J Med Genet. 1987 Apr;26(4):949-57. 

Abstract  

Case report of a teenager with both achondroplasia and hypochondroplasia.

Achondroplasia: unexpected familial recurrence.

Source/Author: Reiser CA, Pauli RM, Hall JG

Abstract  

Discussion of sporadic occurrence of achondroplasia more than 1 time within families. Full text medical article available by contacting medical@lpaonline.org

Acondroplasia

Source/Author: March of Dimes 

Web-based (lay)

IN SPANISH 

Overview of achondroplasia.

Acondroplasia

Source/Author: Benjamin D. Roye, M.D., M.P.H., Division of Pediatric Orthopaedics, Beth Israel Medical Center 

Web-based (lay)

IN SPANISH 

Definition, incidence, symptoms, clinical signs and tests, treatment, prognosis, complications, situations requiring medical assistance.

Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height.

Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. 

Abstract

BMI curves created for children with achondroplasia, ages 0-16. 

Full text medical article available by contacting medical@lpaonline.org

An Introduction to: Achondroplasia and other conditions of short stature

Important Facts, Care Needs, Resources

Source/Author: Michigan Department of Community Health Birth Defects Follow-up Program

Resource

This resource packet for children and families affected by significant short stature was created as a source of information and support. 

Apnea and sudden unexpected death in infants with achondroplasia.

Source/Author: Pauli RM, Scott CI, Wassman ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A, et al. 

Abstract

Discussion of the cause(s) of sudden infant death in achondroplasia. 

Full text medical article available by contacting medical@lpaonline.org

Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia.

Source/Author: Takken T, van Bergen MW, Sakkers RJ, Helders PJ, Engelbert RH. Abstract

Discussion of differences in physical exercise capabilities between average statured children and children with achondroplasia.

Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia.

Source/Author: J. Marc C. van Dijk, Charlotte M. A. Lubout, Patrick A. Brouwer 

Abstract

Article discussing the finding of a lesion in the cervical spinal cord in patients with neurogenic claudication symptoms.

Cervicomedullary decompression for foramen magnum stenosis in achondroplasia.

Source/Author: Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS. 

Abstract

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.

Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression.

Source/Author: D L Rimoin 

Full text

Opinion on when foramen magnum (cervicomedullary) decompression should be done in patients with achondroplasia.

Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates.

Source/Author: Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA.; Am J Med Genet. 1991 Nov 1;41(2):208-11. 

Abstract

Relationship between respiratory complications and mental capacity in achondroplasia

CÓMO TRATAR AL RECIÉN NACIDO Y AL LACTANTE CON ACONDROPLASIA

Source/Author: Cheryl S. Reid, M.D. 

Support group

IN SPANISH. 

Recommendations for how to hold a baby with achondroplasia.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

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.

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia.

Source/Author: John Aryanpur, M.D., Orest Hurko, M.D., Clair Francomano, M.D., Henry Wang, M.D. and Benjamin Carson, M.D. 

Abstract

Discussion of the surgical treatment of foramen magnum stenosis (also known as cervicomedullary compression).

Double heterozygosity in bone growth disorders: four new observations and review.

Source/Author: Flynn MA, Pauli RM. 

Abstract 

Reviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia.

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

Source/Author: Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Abstract 

How MRI in neutral positions may not show cervicomedullary compression that occurs with the head in flexion and/or extension.

Early detection of neurological manifestations in achondroplasia.

Source/Author: Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V, Rodriguez HP, Collado MA, Mora TM, Rueda-Franco F, Gonzalez-Astiazaran A. 

Abstract 

Discussion of which medical studies can help with early with early detection of neurological complications in achondroplasia.

Guia para clinicos en las prestacion de cuidado pediatricos: Revisiones Medicas en Ninos con Acondroplasia 

(Health Supervision Guidelines for Achondroplasia: SPANISH)

Source/Author: AMERICAN ACADEMY OF PEDIATRICS, Committee on Genetics

Full text 

IN SPANISH. 

Translation of the article "Health Supervision Guidelines for Children with Achondroplasia." Growth charts and tables are at the end of the article.

Handling the Newborn with Achondroplasia

Source/Author: Dr. Cheryl S. Reid, M.D., FAAP Member, Medical Advisory Board, LPA, Inc. 

Support Group

Discusses: Sitting up; Head/Neck support; Products to avoid; Breathing.

Health Supervision for Children With Achondroplasia

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. 

Hydrocephalus in Achondroplasia

Source/Author: Paul Steinbok, MD, Children's Hospital Vancouver, BC

Article in lay terms written for the Little People of British Columbia and re--printed in the LPA Today. Dr. Steinbok is a colleague of Dr. Judy Hall. 

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension.

Source/Author: Steinbok P, Hall J, Flodmark O. 

Abstract

Discussion of a possible mechanism for hydrocephalus in achondroplasia. 

Full text article available by contacting medical@lpaonline.org

Issues surrounding prenatal genetic testing for achondroplasia.

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.

Laminectomies and achondroplasia: does body mass index influence surgical outcomes?

Source/Author: Ain MC, Chang TL, Schkrohowsky JG. 

Full text 

Patients with higher BMIs do not have greater risk for complication over those with lower BMIs.

Living with achondroplasia in an average-sized world: an assessment of quality of life.

Source/Author: Gollust SE, Thompson RE, Gooding HC, Biesecker BB.; Am J Med Genet A. 2003 Aug 1;120(4):447-58. 

Abstract

Living with achondroplasia: attitudes toward population screening and correlation with quality of life.

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.

Living with achondroplasia: quality of life evaluation following cervico-medullary decompression.

Source/Author: Ho NC, Guarnieri M, Brant LJ, Park SS, Sun B, North M, Francomano CA, Carson BS 

Abstract 

Qualitative study on how this surgery ends up affecting quality of life in achondroplasia.

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.

Source/Author: Gunthard J, Fliegel C, Ohnacker H, Rutishauser M, Buhler E.; Clin Genet. 1995 Jul;48(1):35-40. 

Abstract 

Case report of newborn with achondroplasia and SEDc.

Medical complications of achondroplasia: a multicentre patient review.

Source/Author: Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr.; J Med Genet. 1998 Sep;35(9):705-12.

Abstract 

Medical Information - Achondroplasia

Source/Author: Restricted Growth Association 

Support Group

Basic overview of achondroplasia. 

Mortality in achondroplasia study: a 42-year follow-up.

Source/Author: Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. 

Full text

Article noting an increased mortality rate for individuals with achondroplasia in infancy and in adulthood.

Mortality in achondroplasia.

Source/Author: Hecht JT, Francomano CA, Horton WA, Annegers JF 

Full text

Evidence of increased mortality in people with achondroplasia over the general population. Full text medical journal article.

Achondroplasia: Natural History in the Infant and Young Child

Source/Author: Richard M Pauli, MD, PhD 

Medical Review

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.

Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia.

Source/Author: Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, Fletcher JM.; Am J Med Genet. 1999 Apr 16;88(2):145-53. 

Abstract  

Cognitive skills of children with achondroplasia in relation to their neurological complications.

Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia.

Source/Author: Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, Fletcher JM.; Am J Med Genet. 1999 Apr 16;88(2):145-53. 

Abstract

Cognitive skills of children with achondroplasia in relation to their neurological complications.

Neurologic morbidity associated with achondroplasia.

Source/Author: Hecht JT, Butler IJ. J Child Neurol. 1990 Apr;5(2):84-97. 

Abstract

Discussion of the neurological complications that can occur in achondroplasia due to skeletal abnormalities of the vertebrae and the base of the skull.

Neurological Considerations in Short Stature

Source/Author: Orest Hurko, MD, LPA Medical Advisory Board

Support Group

Article written in lay terms about the most common neurological problems for individuals of short stature. 

Neurosurgical aspects in achondroplasia: evaluation and treatment

Source/Author: Gil Z, Tauman R, Sivan J, Orr-Urtreger A, Constantini S. 

Abstract

Actual article in Hebrew, but this abstract provides a good overview of the possible neurosurgical/neurological complications in achondroplasia.

Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations.

Source/Author: Sisk EA, Heatley DG, Borowski BJ, Leverson GE, Pauli RM.; Otolaryngol Head Neck Surg. 1999 Feb;120(2):248-54. 

Abstract

Treatment of sleep apnea in achondroplasia with surgical removal of tonsils and/or adenoids: risks and benefits. 

Full text article available by contacting: medical@lpaonline.org


Oh, my aching back

Source/Author: Dr. Robert Wassman Jr.,M.D. 

Support Group

Discussion of the back (spine) problems that can occur in achondroplasia; in lay terms.

Orthodontic management of achondroplasia in South Africa.

Source/Author: Stephen L, Holmes H, Roberts T, Fieggen K, Beighton P

Full text

Otolaryngologic Manifestations of Achondroplasia

Source/Author: William O. Collins, MD; Sukgi S. Choi, MD 

Full text

Ear, Nose and Throat issues of achondroplasia

Patient Guide to Achondroplasia Genu Varum

Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.

Web-based (lay)

Detailed article in lay terms about genu varum (leg bowing) in achondroplasia.

Patient Guide to Achondroplasia Kyphosis

Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.

Web-based (lay)

Detailed article in lay terms about kyphosis in achondroplasia

Patient Guide to Achondroplasia Spinal Stenosis

Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.

Web-based (lay)

Detailed article in lay terms about spinal stenosis in achondroplasia

Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.

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.

Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population.

Source/Author: Srikumaran U, Woodard EJ, Leet AI, Rigamonti, D, Sponseller PD, Ain MC.

Abstract

Medical journal article about the spine in achondroplasia. 

Full text article available by contacting medical@lpaonline.org

Physical Therapy for Children with Achondroplasia

Source/Author: Sister Celeste Weitzel, P.T. 

Web-based (lay)

Overview of the physical therapy needs/issues that may arise for a child with achondroplasia.

Point/Counterpoint: Should Achondroplastic Dwarfs Undergo Leg Lengthening?

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.

Postlaminectomy kyphosis in the skeletally immature achondroplast.

Source/Author: Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS. 

Abstract

Article on the risk of the development of kyphosis after laminectomies in young patients with achondroplasia. 

Full text article available by contacting: medical@lpaonline.org

Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties.

Source/Author: Moutou C, Rongieres C, Bettahar-Lebugle K, Gardes N, Philippe C, Viville S. 

Full text

Article on attempts to use PGD for achondroplasia in France.

Prevention of fixed, angular kyphosis in 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.

PREVENTION OF FIXED, ANGULAR KYPHOSIS in Achondroplasia for Physicians, Orthotists and other Health Professionals.

Source/Author: Richard M Pauli, Peggy Modaff, Catherine A Reiser

Resource

Paper written in medical terms discussing which interventions can help to prevent a fixed kyphosis in children with achondroplasia. 

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

Source/Author: Pauli RM, Horton VK, Glinski LP, Reiser CA. 

Full text

Discussion of how infants with achondroplasia should be screened for cervico-medullary junction compression.

Radiographic Characteristics of Lower-Extremity Bowing in Children

Source/Author: Jugesh I. Cheema, MD, Leslie E. Grissom, MD and H. Theodore Harcke, MD 

Full text

Article discussing how to differentiate between bowing due to different medical conditions based on x-ray findings.

Rates of perioperative complications associated with laminectomies in patients with achondroplasia.

Source/Author: Ain MC, Chang TL, Schkrohowsky JG, Carlisle ES, Hodor M, Rigamonti D. 

Abstract

Article discussing the risks of laminectomy surgeries in patients with achondroplasia.

Full text available by contacting medical@lpaonline.org

Recent milestones in achondroplasia research

Source/Author: William A. Horton 

Full text

Discussion of advances in the molecular understanding of achondroplasia and how this may contribute to potential treatments in the future.

Respiratory complications of achondroplasia.

Source/Author: Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL.; J Pediatr. 1983 Apr;102(4):534-41. 

Abstract

Respiratory Studies in Children with Achondroplasia

Source/Author: Dr. Cheryl S. Reid, M.D., FAAP Member, Medical Advisory Board, LPA, Inc. 

Support Group

Article for LPA Today written by LPA MAB member discussing studies that have helped us better understand the respiratory problems in achondroplasia.

Resting metabolic rate and body composition of achondroplastic dwarfs.

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. 

Review of the Recently Defined Molecular Mechanisms Underlying Thanatophoric Dysplasia and Their Potential Therapeutic Implications for Achondroplasia

Source/Author: Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group.

Abstract

Medical journal article on studies of the molecular aspects of FGFR3 and how understanding these may result in possible non-surgical therapeutic treatments for these conditions.

   Full text available by contacting medical@lpaonline.org

Safe Sports and Modified PE for achondroplastic dwarfs

Source/Author: The Mayeux family, previous parent coordinators

Resource

Articles in lay terms, published in the Parents' Forum discussing which sports are safe for children with dwarfism and now to modify the physical education program for dwarf children. 

Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants.

Source/Author: Bober M, Johnson C, Nicholson L, Scott C Jr.

Reference

Medical journal article discussing a specific way to assess laxity (hypermobility) in achondroplasia infants. 

Full text article available by contacting medical@lpaonline.org

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

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.

Special Considerations for Children with Achondroplasia in a Preschool

Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin

Resource

Document for parents on how to work with their child's preschool to create an age appropriate and safe environment. 

Special Considerations for Children with Achondroplasia in an Elementary School Setting

Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin

Resource

Document for parents on how to work with their child's preschool to provide the appropriate accommodations and a safe, age-appropriate environment. 

Special Considerations for Children with Achondroplasia in Junior and Senior High School

Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin

Resource

Document for parents on how to work with their child's preschool to provide the appropriate accommodations and a safe, age-appropriate environment.

Spirometry and chest wall dimensions in achondroplasia. 

Source/Author: Stokes DC, Pyeritz RE, Wise RA, Fairclough D

Full text

Medical journal article on respiratory function in achondroplasia. 

Sporadic Genetic Mutations - Achondroplasia

Source/Author: Ericka Okenfuss, MS, LPA Medical Resource Director

Resource

Discussion of how achondroplasia is most often due to a sporadic genetic mutation. 

Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.

Source/Author: Hunter AG, Reid CS, Pauli RM, Scott CI Jr.; Am J Med Genet. 1996 Mar 1;62(1):91-7.

Abstract 

How the size of the chest may be related to the risk for respiratory problems in young children with achondroplasia.

Standard weight for height curves in achondroplasia.

Source/Author: Hunter AG, Hecht JT, Scott CI Jr. 

Abstract 

Surgical treatment of lumbar stenosis in achondroplasia

Source/Author: Ralph T. W. M. Thomeer and J. Marc. C. van Dijk 

Full Text 

Evaluation of a surgical method used to treat lumbar stenosis.

The Abnormal Fontanel

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. 

The Achondroplasia Gene

Source/Author: Dr. Judith Hall; LPA Parent Handbook

Resource

Article in lay terms about the discovery of the achondroplasia gene and what it means for people with achondroplasia. 

The lungs and airways in achondroplasia. Do little people have little lungs?

Source/Author: Stokes DC, Wohl ME, Wise RA, Pyeritz RE, Fairclough DL.; Chest. 1990 Jul;98(1):145-52 

Full text 

Article on lung function in achondroplasia

The neurological complications of achondroplasia.

Source/Author: Gordon N.; Brain Dev. 2000 Jan;22(1):3-7. 

Abstract

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

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

Part One

Part Two

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. 

Upper cervical myelopathy in achondroplasia.

Source/Author: Yang SS, Corbett DP, Brough AJ, Heidelberger KP, Bernstein J.; Am J Clin Pathol. 1977 Jul;68(1):68-72.

Abstract 

Neurological complication/injury to spinal cord due to small foramen magnum.

Weight for age charts for children with achondroplasia.

Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. 

Full text

Article on age-specific weights in achondroplasia. Male and Female specific weight for age charts included.

What Are Growth Disorders?

Source/Author: Human Growth Foundation 

Web-based (lay)

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

What is achondroplasia?

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?

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

Achondroplasia

Source/Author: Orphanet, M. le Merrer, M.D. 

Web-based (medical)

In English. Synopsis only. Links to other resources.

Achondroplasia

Source/Author: Harold Chen, M.D., Wladimir Wertelecki, M.D. 

Web-based (medical)

Historical viewpoint. Discuses: Major Criteria; Symptoms; Signs; Associated Findings; Imaging Signs; MRI; Radiologic Features; Laboratory Findings; Histology; Molecular genetics; Prenatal Diagnosis; Ultrasonography; Molecular testing; Differential Diagnosis; Etiology/Causes; Heterozygotes/Carriers/Parents/Family; Pathogenesis/Mechanisms; Age of Detectability; Childhood/Adulthood/Fertility/Aging; Complications/Risks; Sex Ratio; Occurrence/incidence/Prevalence; Gene/Chromosome; Management/Treatment; Prognosis; Prevention; References

Achondroplasia

Source/Author: Richard Twyman 

Web-based (medical)

Brief overview of the genetics, symptoms, diagnosis and treatment options for achondroplasia.

Achondroplasia-Radiology

Source/Author: Radiology Museum 

Web-based (medical)

Brief overview of radiographic features of achondroplasia. Includes x-ray images.

Achondroplasie

Source/Author: Orphanet, M. le Merrer, M.D. 

Web-based (medical)

IN FRENCH. En français. 

Synthèse seulement. Liens à d'autres ressources. Translation of the English version by the same author.

Acondroplasia

Source/Author: Orphanet, M. le Merrer, M.D. 

Web-based (medical)

IN ITALIAN. In Italiano. 

Sinossi soltanto. Collegamenti ad altre risorse. Translation of English version by the same author.

Acondroplasia

Source/Author: Federacion Espanola de Enfermedades Raras (FEDER) 

Web-based (medical)

IN SPANISH

Brief discussion of achondroplasia **Look for acondroplasia under Patologias** 

 

 

 

 

 

 

 

 

 

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