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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:skeletal_dysplasia
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gptkbp:affects
|
humans
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|
gptkbp:characterizedBy
|
short stature
macrocephaly
midface hypoplasia
disproportionately short arms and legs
frontal bossing
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|
gptkbp:complication
|
hydrocephalus
spinal stenosis
obstructive sleep apnea
recurrent ear infections
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|
gptkbp:diagnosedBy
|
genetic testing
radiographic imaging
clinical features
|
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gptkbp:firstDescribed
|
gptkb:Jean-Louis-Marie_Alphonse_Dechambre
1878
|
|
gptkbp:frequencyOfDeNovoMutation
|
about 80% of cases
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Achondroplasia
|