Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
humans
|
| gptkbp:characterizedBy |
short stature
macrocephaly midface hypoplasia disproportionately short arms and legs frontal bossing |
| gptkbp:complication |
hydrocephalus
spinal stenosis obstructive sleep apnea recurrent ear infections |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging clinical features |
| gptkbp:firstDescribed |
gptkb:Jean-Louis-Marie_Alphonse_Dechambre
1878 |
| gptkbp:frequencyOfDeNovoMutation |
about 80% of cases
|
| https://www.w3.org/2000/01/rdf-schema#label |
Achondroplasia
|
| gptkbp:ICD-10_code |
Q77.4
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:lifeExpectancy |
near normal with proper management
|
| gptkbp:MeSH_ID |
D000164
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
|
| gptkbp:notablePerson |
gptkb:Kenny_Baker
gptkb:Warwick_Davis gptkb:Jason_Acuña |
| gptkbp:OMIM |
100800
|
| gptkbp:prevalence |
approximately 1 in 15,000 to 40,000 live births
|
| gptkbp:treatment |
supportive care
growth hormone therapy (limited efficacy) surgical intervention for complications |
| gptkbp:bfsParent |
gptkb:chromosome_4
|
| gptkbp:bfsLayer |
6
|