Special Care For Special Kids



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An Introduction to:

Achondroplasia & Other Conditions of Short Stature





Special Care For Special Kids

Created by: Michigan Department of Community Health

Birth Defects Follow-up Program

Achondroplasia & Other Conditions of Short Stature

Contributors


This pamphlet was reviewed by medical

representatives from the following organizations:

Michigan Department Of Community Health

Hospital


Special Care for Special Kids

First Edition

2004



Achondroplasia & Other Conditions of Short Stature


This resource packet for children and families affected by significant short stature was created as a source of information and support. It will hopefully aid in the care and support for a child with significant short stature.



Disclaimer: Each special child is unique, thus the care they require may differ. This pamphlet reviews care often needed by special children with significant short stature. Each child may need unique treatment, may respond differently to treatment and have unique family and support systems. This pamphlet cannot replace the care and specific recommendations for your special child given by his/her own doctors.

Table of Contents:


Achondroplasia & Other Conditions of Short

Stature


  1. Introduction

    1. What are medical conditions of short stature?



I.Overview of Certain Types of Skeletal Dysplasias




  1. Glossary




  1. Things to Consider for the Child with Short Stature



II.Quick Check: Health Issues Worksheet
c.Achondroplasia

    1. Diastrophic Dysplasia

    2. Ellis van-Crevald

    3. Fanconi Anemia

    4. Hypochondroplasia

    5. Osteogenesis Imperfecta




  1. Resources for my Family



IV.References


I. Introduction


What are Medical Conditions of Short Stature?

Children may never reach a normal adult height for many reasons. Family history, ethnic background and untreated medical problems may all play a role in a child’s final adult height. Short stature can also be caused by a skeletal dysplasia. A skeletal dysplasia is a syndrome affecting the size and shape of the bones and skull.


Over 200 forms of skeletal dysplasias exist. Most cause unique traits and adult height to be about 4 feet 10 inches or less. Some people with a skeletal dysplasia may be slightly taller. They will usually still have other signs of the bone problem.
Dwarfism is another medical term used to describe skeletal dysplasias. The term “midget” exists. This word is offensive. It should not be used to describe persons of short stature.
A skeletal dysplasia may affect only the size or shape of a person’s bones and skull. In other cases it may cause health problems for a person. Mental retardation is common in some forms of skeletal dysplasias. A person should never be considered mentally impaired based on height alone.
A clinical geneticist and radiologist will be able to diagnose most forms of skeletal dysplasias. They may use tools such as physical exams or X-rays. Signs of a bone problem may be present before a child is born. The specific type of problem may not be diagnosed until after birth when special testing can be performed. Some forms of skeletal dysplasias do not show any signs until after birth.




Etiology


Most skeletal dysplasias are genetic problems. Many different abnormal genes cause different types of skeletal dysplasias. Some bone problems may arise for the first time in an affected child. These occur due to a new mutation, or change, in that child’s genes. Other times a child is born with a skeletal dysplasia because the abnormal gene was inherited from one or both parents. The parent may be affected with the same type of bone problem. Sometimes both parents may be unaffected, but carry a trait for the bone problem. If both pass the trait to a child, the child will be affected. Section II reviews in more detail the types of skeletal dysplasias and how they arise in a child.

Prognosis (Future Outlook)


The prognosis for a child with a skeletal dysplasia will depend on the type of problem present. Many people lead full normal lives. Others can face significant obstacles and health problems due to their condition. Care needs for a child will be very specific to the type of skeletal dysplasia. Your child’s clinical geneticist, genetic counselor and other doctors will be able to help you prepare and learn about any possible medical and physical obstacles your child may face.






II. Overview of Certain Types of Skeletal Disorders




Achondroplasia

Description

Short arms and legs with normal torso

Large head with prominent forehead

Flat nose between the eyes

Markedly curved lower spine

Normal intelligence expected

Inheritance

Autosomal dominant

Chromosome #4

FGFR3 gene

Mutation found in all with Achondroplasia



Diastrophic Dysplasia

Description

Short stature with onset prior to birth

Club feet

Joint malformation/ “Hitch-hiker thumb”

Short tubular bones

Soft mass in outer ear develops into cartilage

25% expire in infancy

Survivors usually do quite well

Normal intelligence expected



Inheritance

Autosomal recessive

Chromosome #5

DTDST gene
Ellis van-Crevald syndrome (Chondroectodermal dysplasia)

Description

Short stature with onset prior to birth

Disproportionate short arms & legs

Polydactyly

Small thorax

Hypoplastic nails

50% have heart defects

~50% expire in early infancy

Survivors usually of normal intellect

Dental problems common

Inheritance

Autosomal recessive

Chromosome #4



Fanconi syndrome

Description

Short stature often prior to birth

Small head and mental retardation in ~25%

Abnormalities of the thumb

Small to absent radius bones

Small and/or malformed kidneys

Pancytopenia

Brownish color to skin

Inheritance

Autosomal recessive

Chromosome breakage observed








II. Overview of Certain Types of Skeletal Disorders (cont.)






Hypochondroplasia

Description

Short stature usually after birth

Short limbs

Narrowing of spine

Near-normal facial features

Mental impairment possible

Inheritance

Autosomal dominant

Chromosome #4



Osteogenesis Imperfecta (Type I, III, IV)

Description

Short stature: Onset prenatal vs. after birth

Fragile bones

Prone to multiple muscle fractures

Blue sclera (whites of eyes) excluding Type IV

Possible hearing loss

Possible dental problems


Osteogenesis Imperfecta (Type II)
Description

Short stature prior to birth

Fragile bones: many fractures present at birth

Beaded ribs seen due to fractures

Limited survival after birth



Osteogenesis Imperfecta (Types I, II, III, IV)
Inheritance

Autosomal dominant

Words found in green are defined in the proceeding glossary.


III. Glossary

Achondroplasia & Other Conditions of Short Stature



Asymmetric Sides of the body are not in proportion. One side may be longer/larger or shorter/smaller than the other.
Autosomal dominant A pattern of inheritance in which one gene from a pair does not work properly. The effects of the non-working gene are seen as symptoms of the disorder. An affected parent has a 50% (1 in 2) chance of passing the gene to a child who would also be affected. The non-working gene may arise for the first time in a child.
Autosomal recessive A pattern of inheritance in which both genes from a pair do not work properly. The effects of the non-working genes are seen as symptoms of the disorder. Parents of an affected child are healthy non-symptomatic carriers. When both parents are carriers, the chance of having an affected child with each pregnancy is 25% (1 in 4).
Club foot Abnormally positioned foot. Shape of foot often normal but positioned incorrectly. May be corrected by bracing or surgery.

Dysplasia Abnormal development.
Hypoplastic/ Hypoplasia Something that is

underdeveloped.


Hypotonia Muscle weakness, low muscle

tone.
Iliac spurs A projecting body of bone in the

area of the pelvis.
Mutation Abnormality within a gene causing

it to not work properly.


Pancytopenia Abnormal depression of all cellular

elements of the blood.


Polydactyly Extra fingers or toes.
Punctate Mineralization Spotty deposits of minerals in the

bone.
Radius Shorter bone of the forearm.


Scoliosis Abnormal curvature of the spine.

One shoulder may be higher than the other.


Thorax Chest.
Torso One’s body without taking into

account the head or limbs.









IV. Things to Consider for the Child with Short Stature

Achondroplasia & Other Conditions of Short Stature




  1. Teasing

    1. Teasing often comes from ignorance and misunderstanding.

    2. View teasing as a chance to educate a person.

    3. Remind your child that every person has differences. All people are unique. Some children don’t understand certain differences as well as others. True friends look past differences.

    4. It is sometimes difficult to see the good in people. Recognizing it in yourself will help you to deal with others who are not as nice.

    5. People come in all shapes and sizes. A person’s shape does not determine who that person is or will become.




  1. Misjudging one’s age

    1. Remind others that height does not indicate one’s age.

    2. Age, not height, should be the basis for how a child is treated.




  1. Limited reach

    1. Adaptive changes can be made to many homes to make them accessible for the person of shorter stature.

    2. Reaching aids are available.



    1. Your doctor and national organizations may provide valuable information about making home and workplace accessible as well as the tools available to you or your child.




  1. Sports limitations

    1. Stature may limit participation in some but not all sports activities.

    2. Allow your child to explore the sports in which he/she has interest.

    3. Competitive sports may be limited but physical activity usually is not.

(Always follow your doctor’s specific recommendations)


  1. Clothing

    1. It may be difficult to find appropriate age and sized clothing.

    2. National organizations and support groups may assist in recommendations.





V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Achondroplasia

Infancy


_____ Confirm diagnosis by radiographic studies
_____ Assess for signs of hydrocephalus
_____ Follow growth/head size/development
_____ Watch for obstructive sleep apnea
_____ Avoid walkers, jumpers, backpack carriers

Childhood


_____ Assess growth/development
_____ Continue to follow head growth
_____ Consult orthopedic surgeon if bowed legs interfere with

walking
_____ Watch for obstructive sleep apnea

_____ Assess speech development
_____ Obtain any assistive devices to help with daily living

Adulthood


_____ Genetic counseling regarding future children
_____ Learn and watch for symptoms of nerve compression
_____ Discuss weight and height
_____ Psychological counseling if needed





V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Diastrophic Dysplasia

Infancy


_____ Confirm diagnosis by radiographic studies
_____ Consult with Neonatologist & any follow-up studies to ensure normal respirations (breathing)
_____ Treatment of soft tissue mass in outer ear

_____ Consult with Orthopedic surgeon if club feet present


_____ Follow growth/development

Childhood


_____ Assess growth/development
_____ Obtain any assistive devices to help with daily living
_____ Consult orthopedic surgeon for joint dislocations
_____ Assess and treat development of scoliosis

Adulthood


_____ Genetic counseling regarding future children
_____ Discuss weight and height
_____ Psychological counseling if needed




V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Ellis van-Crevald syndrome

Infancy


_____ Confirm diagnosis by radiographic studies
_____ Consult with Neonatologist & any follow-up studies to ensure normal respirations (breathing)
_____ Consult with Cardiologist on detecting/repairing any heart defects
_____ Consult with Orthopedic surgeon for polydactyly
_____ Follow growth/development

Childhood


_____ Assess growth and development
_____ Obtain any assistive devices to help with daily living
_____ Consult dentist for any dental problems

Adulthood


_____ Genetic counseling regarding future children
_____ Discuss weight and height
_____ Psychological counseling if needed
_____ Provide support information
See Section VI. for general support information




V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Fanconi syndrome

Infancy


_____ Confirm diagnosis by radiographic & laboratory studies
_____ Ultrasound exam of kidneys & urinary tract
_____ Hearing exam
_____ Consult with hematologist
_____ Follow growth/development

Childhood


_____ Assess growth/development
_____ Continue to monitor hearing
_____ Continue follow-up studies with Hematologist
_____ Monitor pubertal development
_____ Consult with Endocrinologist


Adulthood


_____ Genetic counseling regarding future children
_____ Discuss cancer prevention with doctor
_____ Yearly: gynecological & rectal exams, esophageal endoscopy, dental exam
_____ Discuss with doctor: androgen/growth hormone administration, bone marrow transplant

_____ Provide support group information

Fanconi Anemia Research Fund, Inc (FARF)

800-828-4891



www.fanconi.org
International Fanconi Anemia Registry (IFAR)

IFAR
See Section VI. for general support information




V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Hypochondroplasia

Infancy


_____ Confirm diagnosis by radiographic studies
_____ Assess for signs of hydrocephalus
_____ Follow growth/head size/development
_____ Watch for obstructive sleep apnea
_____ Avoid walkers, jumpers, backpack carriers

Childhood


_____ Assess growth/development
_____ Continue to follow head growth
_____ Consult orthopedic surgeon if bowed legs interfere with

walking
_____ Watch for obstructive sleep apnea

_____ Assess speech development
_____ Obtain any assistive devices to help with daily living


Adulthood

_____ Genetic counseling regarding future children


_____ Learn and watch for symptoms of nerve

compression


_____ Discuss weight and height
_____ Psychological counseling if needed
_____ Provide support information
See Section VI. for general support information





V. Quick Check: Health Issues Worksheet


Medical Conditions of Short Stature

Osteogenesis Imperfecta Types I, III and IV

Infancy


_____ Confirm diagnosis by radiographic & laboratory studies
_____ Hearing exam
_____ Begin physical therapy if motor delays recognized
_____ Follow growth/development
_____ Never push, pull, bend limb into awkward position

Childhood


_____ Assess growth/development
_____ Continue to monitor hearing
_____ Continue physical therapy
_____ Occupational therapy if needed

_____ Dental exam with possible treatment for

dentinogenesis imperfecta
_____ Safe physical exercises to socialize and keep weight

down



Adolescence/Adulthood

_____ Genetic counseling regarding future children


_____ Orthopedic treatments: surgical placement of rods

possible, treatment of deformities resulting from

fractures, treatment of scoliosis
_____ Discuss with doctor: biophosphonate drugs, growth

hormone & other research therapies


_____ Use of crutches, braces, cane, walker or wheelchair

as needed


_____ Provide support information
Osteogensis Imperfecta Foundation

800-981-2663



www.oif.org
Children’s Brittle Bone Foundation

866-694-2223



www.cbbf.org
See Section VI. for general support information



VI. Resources for my Family


Achondroplasia & Other Conditions of Short Stature


Products

Billy Barty Foundation

929 W Olive Ave., Ste. C

Burbank, CA 91506

818-953-5410

Multiple products
Danny Black

1295 Stoll Road

DeWitt, MI 48820

517-371-2225



dwarfproducts@shortdwarf.com
www.dwarfism.org

Exhaustive resource page



www.dwarfism.org/dwarfstore.php

Multiple products: clothing,

adaptive, automotive, furniture,

mobility, health, toys

Support/Information

Little People of America

P.O. Box 65030

Lubbock, TX 79464-5030

888-LPA-2001

www.lopaonline.org

Locate any local support group chapters.

March of Dimes

Achondroplasia Fact Sheet

www.modimes.org
Magic Foundation

www.magicfoundation.org/default.htm
Michigan Birth Defects Registry Follow-up Program: Support Group “manual”

BDRFollowup@michigan.gov
www.migeneticsconnection.org

800-


517-335-8887

Research/Diagnosis/Information

European Skeletal Dysplasia Network



www.esdn.org/research.html
Skeletal dysplasia clinic

Cedars-Sinai Medical Center

8700 Beverly Blvd., North Tower, Fourth Floor

Los Angeles, CA 90048

1-800-CEDARS-1

www.csmc.edu/pediatrics/2481.asp


VI. References


Achondroplasia & Other Conditions of Short Stature

“Achondroplasia”. [October 1997] March of Dimes. Retrieved May 01, 2003.



http://www.modimes.org/healthLibrary2/factsheets/Achondroplasia.htm
Centerwall, W., S. Centerwall. [1986] An Introduction to Your Child Who Has Achondroplasia. Light for the Way, Inc.
GeneReviews Achondroplasia. C. Francomano. National Institutes of Health. Retrieved May 1, 2003.

http://www.genetests.org
GeneReviews Hypochonroplasia. G. Bellus, T. Kelly, A. Aylsworth. National Institutes of Health. Retrieved May 1, 2003.

http://www.genetests.org
GeneReviews Fanconi Anemia. A. Shimamura, L Moreau, A. D’Andrea, Dana Farber Cancer Institute. National Institutes of Health. Retrieved May 1, 2003.

http://www.genetests.org
GeneReviews Achondroplasia. C. Francomano. National Institutes of Health. Retrieved May 1, 2003.

http://www.genetests.org
Jones, K. [1997] Smith’s Recognizable Patterns of Human Malformation. Fifth Edition. W.B. Saunders Company.
“LPA Online” Little People of America Retrieved May o1, 2003.

http://www.lpaonline.org/lpa_contacts.html






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