| ... common neonatal lethal skeletal dysplasia ... caused by mutations in the FGFR3 gene ... development and maintenance of bone and brain tissue ... very short limbs, extra folds of skin on extremities, narrow chests, short ribs, underdeveloped lungs, enlarged heads, and prominent wide-spaced eyes. There are two forms ... Type 1 ... bowed long bones, flattened bones of the spine (platyspondyly), extreme rhizomelia, normal trunk length, and an absent clover-leaf skull. Type 2 presents with short straight long bonesand a clover-leaf skull ... death usually occurs within the first few hours of life ... there is a 2:1 male to female ratio ... one mutated allele is all that is required to express the diseased phenotype ... most of the TD cases are caused by spontaneous mutations ... Since the affected individuals are unable to reproduce, this disorder is generally not passed through a family ... restriction enzyme analysis can be used to identify the specific 742C-T FGFR3 gene mutation. |
Thanatophoric Dysplasia
Genetics Home Reference, U.S. National Library of Medicine, June 2006
 "Good ... geared towards families"
Thanatophoric Dysplasia
Aldo Campana, Geneva Foundation for Medical Education and Research, June 3, 2007
"Several images"
Thanatophoric dysplasia in monozygotic twins
Cheryl D. Norris, RDMS, BS et al., TheFetus.net, 1994
"Very complete"
THANATOPHORIC DYSPLASIA
Victor A. McKusick, OMIM, Johns Hopkins University, March 14, 2007
[for Professionals mainly]
Thanatophoric dysplasia is a term that applies to a type of micromelic dwarfism in which death usually occurs in the first hours of life. The ribs and bones of the extremities are very short. Vertebral bodies are greatly reduced in height with wide intervertebral spaces, but caudad narrowing of the spinal canal is not present ... TD has been classified into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated type II TD ... reported in monozygotic twins ... parental age was found to be increased ... autosomal dominant inheritance with an overall mutation rate of 1.34 per 100,000 gametes, a value close to that observed in achondroplasia. A majority of TD1 patients harbor amino acid substitutions in the extracellular domain of the gene encoding fibroblast growth factor receptor-3 (FGFR3; ... In 26 cases of TD1, 3 missense mutations accounted for 73% of the cases ...
Fibroblast growth factor receptor 3; FGFR3
Victor A. McKusick, OMIM, Johns Hopkins University, June 11, 2008
[for Professionals mainly]
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 ...
The Billy Barty Foundation
[Support Group]
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 ...
General information guide to short stature (Australia).
Short Statured People of Australia Inc., December 28, 2005
[Support Group]
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 …
Little People of America, Inc.
Little People of America, 2007
[Support Group]
A nonprofit organization that provides support and information to people of short stature and their families ...
The Magic Foundation for Children's Growth and Related Adult Disorders
Magic Foundation ( Major Aspects of Growth In Children ), 2007
[Support Group]
Thanatophoric Dwarf Imaging Findings
Thomas F Gudas, MD; Piran Aliabadi, MD, BrighamRAD
Plain radiographs demonstrate severe rhizomelic dwarfism (involving the shoulder joint and hip joint) and a large head. There is extreme generalized platyspondy (flattening of the vertebral bodies) ... ribs are short and horizontal ... bowing of the extremities; the femora resemble "telephone handles" ...
International Skeletal Dysplasia Society
International Skeletal Dysplasia Society, 2007
The principal aim of the Society shall be to promote scientific progress in the field of skeletal dysplasias and dysostoses ...
LPA Online
Little People of America
The Library ...
L'Association québécoise des personnes de petite taille (Canada)
AQPPT, November 27, 2006
[Support Group] [French]
Thanatophoric Dysplasia
I.B.I.S. Birth Defects, July 21, 2002
[Ukrainian]
Fact sheet for specialists in Ukrainian
Main diagnostic criteria ... Etiology ... Clinical features ... Associated anomalies ... Diagnosis ... Prenatal diagnosis ... Differential diagnosis ... Prognosis ... Obstetrical tactics ... Pattern of inheritance ... OMIM number
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Last Updated: 2008/6/13
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