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Acrofacial dysostosis, Weyers type
1 OMIM reference -
2 associated genes
3 connected diseases
19 signs/symptoms
Disease Type of connection
Ellis Van Creveld syndrome
Heritable pulmonary arterial hypertension
Nestor-Guillermo progeria syndrome
Synonym(s):
- Curry-Hall syndrome
- Weyers acrodental dysostosis
- Weyers acrofacial dysostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536695

Gene symbol UniProt reference OMIM reference
EVC P57679604831
EVC2 Q86UK5607261
Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal fingernails
- Abnormal toenails
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Oral synechiae / abnormal frenulae
- Postaxial polydactyly (hand)
- Premature eruption of teeth / natal teeth
- Short stature / dwarfism / nanism
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Tooth shape anomaly

Frequent
- Antihelix anomaly
- Clinodactyly of fifth finger
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Facial cleft
- Small hand / acromicria