Achondroplasia

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Achondroplasia

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Topics include Title and
Acondroplasia

Special Resources

Achondroplasia

A Selection of Internet Sites

[*] Outstanding
[P] Professional
[S] Support Group
[French]
[Spanish]

Achondroplasia
Fact Sheet
Illustrated Overview

Short Stature
Dwarfism
Midgets

[*] [P] OMIM
Comprehensive Review for Specialists.

[*] [P] Fibroblast growth factor receptor 3; FGFR3
by OMIM
Gene Map Locus: 4p16.3
The fibroblast growth factors are a family of polypeptide growth factors involved in a variety of activities including mitogenesis, angiogenesis, and wound healing ... Thompson et al. (1991) isolated the FGFR3 gene from the Huntington disease region of human chromosome 4, p16.3 ... FGFR3 gene is expressed in many areas of the brain, among them the caudate and putamen ... site of the mutation in achondroplasia ... Thanatophoric dysplasia (TD; 187600) resembles homozygous achondroplasia in some respects ... Meyers et al. (1995) found a mutation in the FGFR3 gene ... with a syndrome of Crouzon craniosynostosis and acanthosis nigricans ... Naski et al. (1996) studied the effect of the achondroplasia (ACH) and thanatophoric dysplasia (TD) mutations ... The epiphyseal growth plates of individuals carrying the G380R substitution in the FGFR3 gene, the most common cause of achondroplasia ... Bellus et al. (1996) described a pro250-to-arg mutation in FGFR3. On the basis of 61 individuals from 20 unrelated families where coronal synostosis was due to the P250R mutation in the FGFR3 gene ... Muenke et al. (1997) suggested that all patients with coronal synostosis should be tested for this mutation ... FGFR3 is another example of a gene that can function both as an oncogene and a 'teratogene.' ... Although there are significant exceptions to this generalization, dominant mutations in the FGFR3 gene affect predominantly bones that develop by endochondral ossification, while dominant mutations involving FGFR1 (136350) and FGFR2 (176943) principally cause syndromes that involve bones arising by membranous ossification, e.g., Pfeiffer syndrome (101600), Crouzon syndrome (123500), Apert syndrome (101200), Saethre-Chotzen syndrome (101400), Beare-Stevenson cutis gyrata (123790), and Jackson-Weiss syndrome (123150). The FGFR3 nucleotides mutated in most cases of achondroplasia (1138G) and Muenke nonsyndromic craniosynostosis (749G) are among the most highly mutable nucleotides in the human genome ... Passos-Bueno et al. (1999) provided an up-to-date listing of the mutations in FGFR1, FGFR2, and FGFR3 associated with distinct clinical entities, including achondroplasia, hypochondroplasia (146000), platyspondylic lethal skeletal dysplasia (see 151210 and 270230), thanatophoric dysplasia (see 187600 and 187601), Antley-Bixler syndrome (207410), Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome ... oncogenic role for FGFR3 in carcinomas ... activated FGFR3 in a large proportion of 2 common epithelial cancers, bladder and cervix ... most frequently mutated oncogene in bladder cancer, being mutated in more than 30% of cases ...
.0011 Crouzon Syndrome with Acanthosis Nigricans [FGFR3] : In a mother and daughter with a syndrome of Crouzon craniosynostosis in association with acanthosis nigricans and in 2 sporadic cases with this combination, Meyers et al. (1995) observed a G-to-A transition at nucleotide 1172 of FGFR3, resulting in an ala391-to-glu (GCG-to-GAG) mutation in the transmembrane domain ...
Hypochondroplasia : ... 18 Taiwanese patients with hypochondroplasia, ... a C-to-A transversion at nucleotide 1659 (in their numbering system) of the FGFR3 gene in 6 patients, and a C-to-G transversion of the same nucleotide in 4 patients ... Fofanova et al. (1998) studied 16 patients with hypochondroplasia, ... In 9 patients (56.3%), the heterozygous N540K mutation was detected ...
Muenke Syndrome : Muenke Nonsyndromic Coronal Craniosynostosis Saethre - Chotzen Syndrome : ... mutation is in the extracellular domain of the FGFR3 protein ... Muenke et al. (1997) provided ... on a series of 61 individuals from 20 unrelated families in which coronal craniosynostosis is due to this mutation, defining a new clinical syndrome that is referred to as Muenke nonsyndromic coronal craniosynostosis ... In a study of 32 unrelated patients with features of Saethre-Chotzen syndrome, Paznekas et al. (1998) identified 7 families with the P250R mutation of the FGFR3 gene ...

[*] [P] Clinical signs of Achondroplasia
Inheritance ... Mechanism ... Chromosome Location ... Ongoing Research ...

[*] [P] Children's Virtual Hospital
Clinical presentation ...

[*] [P] Achondroplasia: Definitions, Epidemiology, Pathogenesis
Mostly for Pediatricians.

[*] [P] Health Supervision for Children with Achondroplasia
Policy Statement ...

[P] [S] Center for Skeletal Dysplasias
A Core Resource ...

[*] [S] Little People of America:
Position Statement on Genetics discoveries in dwarfism ...

[Spanish] March of Dimes Fact Sheet: Acondroplasia

Achondroplasia
By DJ Wilkin, PhD ...

[*] [S] The Billy Barty Foundation
by Billy Barty, Founder
I am a dwarf. This means I was born with a medically recognized condition ... The name of my condition is Cartilage Hair Syndrome Hypoplasia ...
Most of us with dwarfism prefer to be described as "Little People". And please, put the emphasis on the word "People." ...
Dwarfism is a condition that affects over 1.5 million people in the U.S. alone, and there are over 100 different types of dwarfism. Most Little People are born to families with NO HISTORY of dwarfism ... We endure everything from job discrimination and reduced social opportunities to physical abuse and open public ridicule on a daily basis ...
The Billy Barty Foundation's mission is to guarantee an acceptable and improved quality of life for Little People through education, employment, accessibility and athletic programs ...

[****] [P] [S] Skeletal Dysplasias ( and Pregnancy )
by Greenberg Center
One problem seen in pregnant women with dwarfism is respiratory problems. In very small women ... the uterus is already an abdominal organ because of a short anteroposterior diameter of the pelvic inlet. Therefore, the pelvis is not used for uterine growth ... Another cause of respiratory distress ... shortened trunk ... (Allanson & Hall, 1986) ... indicate that 9 / 46 women had respiratory difficulties in the last two months of pregnancy ...
A second problem ... in pregnant women with dwarfism are symptoms of nerve root compression ... 5 / 46 women were symptomatic ...
Another important obstetrical issue is the mode of delivery and type of anesthesia utilized. The majority of infants ... are delivered by elective or scheduled c-section ... general anesthesia was utilized because of the fear of doing a spinal or epidural block in patients with narrowed lumbar spines ... It is important to remember that if general anesthesia is utilized, care must be used during intubation ...

[**] [S] General information guide to short stature (Australia).
by Short Statured People of Australia Inc.
Diagnosis
- Examination, X - rays, Blood tests, Urine tests, Biopsy
Babies and young children ...
Family response ...
School ...
Higher education ...
Teenage years ...
Employment ...
A non - profit, self - help organization that provides support and information for people of short stature (dwarfs) …
Our aim is to assimilate people of short stature into society …

[S] Links and References to Organizations with Information on Dwarfism and Skeletal Dysplasias
by Greenberg Center for Skeletal Dysplasias

Types of Dwarfism ( links to OMIM )
from Centralized Dwarfism Resources
Compiled from the Human Genome Database
875 various types of dwarfism and dysplasia
320 Dwarfism types ...
555 Dysplasia types ...

International Skeletal Dysplasia Society
by International Skeletal Dysplasia Society
The principal aim of the Society shall be to promote scientific progress in the field of skeletal dysplasias and dysostoses ...

[*] [S] Little People of America, Inc.
from Yahoo Internet Life, June 2000
A nonprofit organization that provides support and information to people of short stature and their families ...

[S] LPA Online ( Little People of America )
from Little People of America
There are an estimated 200 types, some of which have never even been named ...
Of the estimated 200 types of dwarfism, achondroplasia is by far the most common ...

LPA Online
from Little People of America
The Library ...

[*] [S] [English] [French] Dwarfism
from Centralized Dwarfism Resources
In Old English: Dwergh
In German Zwerg
A diminutive human being
Also a reference to anything much below the usual or average size; as, dwarf tree; dwarf honeysuckle
Midget ...
Offensive ... person ... of proportionate stature.
A small or miniature version of ...
A class of small objects ...
We are first and foremost human beings ... Use of the word "midget" to describe someone of short stature is considered extremely offensive by some people. It is better to refer to someone of short stature as a "Little Person" or "Dwarf" ...

[S] [French] L'Association québécoise des personnes de petite taille (Canada)
from AQPPT

[S] The Magic Foundation for Children's Growth and Related Adult Disorders
from Magic Foundation ( Major Aspects of Growth In Children )

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12/November/2002 R.C.