RASopathy with hypertrophic cardiomyopathy, atrial tachycardia and papillomata.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- HRAS
- Alternative names & eponyms
- Faciocutaneo-skeletal syndrome
Etiology & mechanism
HRAS activating variants.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Costello syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability, short stature
3 shared
Coffin–Lowry syndrome
coarse facies, intellectual disability, short stature
3 shared
Coffin–Siris syndrome
coarse facies, feeding difficulty, intellectual disability
2 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability
2 shared
Cardiofaciocutaneous syndrome
hypertrophic cardiomyopathy, intellectual disability
2 shared
Hajdu–Cheney syndrome
coarse facies, short stature
2 shared
Hunter syndrome
coarse facies, short stature
2 shared
LEOPARD syndrome
hypertrophic cardiomyopathy, short stature
2 shared
Lowe syndrome
intellectual disability, short stature
2 shared
Marinesco–Sjögren syndrome
intellectual disability, short stature
Shares genes with
None.
Loading…
Loading…