Cardiology · Cardiology / Genetic cardiology
Ellis–van Creveld syndrome
also: Chondroectodermal dysplasia
Skeletal dysplasia with polydactyly, ectodermal dysplasia and common atrium.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- EVC, EVC2
- Alternative names & eponyms
- Chondroectodermal dysplasia
Etiology & mechanism
Defective hedgehog signaling from EVC or EVC2.
Gene(s) involved (2)
Symptoms & signs (8)
In plain terms, someone with Ellis–van Creveld 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.
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Shares symptoms with
3 shared
Jeune syndrome
polydactyly, respiratory distress, short ribs
1 shared
Bardet–Biedl syndrome
polydactyly
1 shared
Cardiofaciocutaneous syndrome
atrial septal defect
1 shared
Gray baby syndrome
respiratory distress
1 shared
Holt–Oram syndrome
atrial septal defect
1 shared
Kabuki syndrome
atrial septal defect
1 shared
Meckel–Gruber syndrome
polydactyly
1 shared
Orofaciodigital syndrome type 1
polydactyly
1 shared
Patau syndrome
polydactyly
1 shared
Pentalogy of Cantrell
respiratory distress
Shares genes with
None.
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