Achondroplasia

DIS: 43




Achondroplasia

Definition: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. Achondroplasia is an autosomal dominant disorder; a majority of cases are sporadic, the result of a de novo mutation. There is an evidence that achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3; MIM.134934), which is located at 4p16.3.


Synonyms:
There are no synonyms for this malformative disease.

Category: Monogenic disease

Developmental anomalies

Listed in the disease's profile :

Observed in MDB cases: (graph view)


There are no developmental anomalies for this disease.
Case records

Associated signaling pathways
Associations Gene: FGFR 3
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            [name] => Achondroplasia
            [description] => Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. Achondroplasia is an autosomal dominant disorder; a majority of cases are sporadic, the result of a de novo mutation. There is an evidence that achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3; MIM.134934), which is located at 4p16.3. 
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                    [name] => Frontal bossing
                    [description] =>   Frontal bossing is an unusually prominent forehead, sometimes associated with a heavier than normal brow ridge.
 Frontal bossing is seen only in a few rare syndromes, including:
Acromegaly, 
Basal cell nevus syndrome 
Congenital syphilis 
Cleidocranial dysostosis 
Crouzon syndrome 
Hurler syndrome 
Pfeiffer syndrome 
Rubinstein-Taybi syndrome 
Russell-Silver syndrome (Russell-Silver dwarf) 
Use of the antiseizure drug trimethadione during pregnancy 


    Associared with facial dysmorphisme
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                    [name] => Trident hand
                    [description] => Trident-like appearamce of the hand. A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape; seen in achondroplasia. 


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Links

Humpath: 10184

thefetus.net: (empty)

eMedicine: (empty)

OMIM: 100800

Wikipedia: (empty)

DiseaseDB: (empty)