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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
8 signs/symptoms
Carney complex-trismus-pseudocamptodactyly syndrome
Trismus - pseudocamptodactyly

MYH8 MYH8
TPM2


COMMON
GENES
MYH8



Citations in the biomedical literature:


Carney complex-trismus-pseudocamptodactyly syndrome
MYH8
Trismus - pseudocamptodactyly
TPM2



Carney complex-trismus-pseudocamptodactyly syndrome
Trismus - pseudocamptodactyly

Synonym(s):
- Carney complex variant

Synonym(s):
- Distal arthrogryposis type 7
- Dutch-Kentucky syndrome
- Hecht syndrome
- Hecht-Beals syndrome

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Trismus - pseudocamptodactyly

Very frequent
- Autosomal dominant inheritance
- Muscle anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Symphalangy of fingers

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Prognathism / prognathia
- Ptosis


Carney complex-trismus-pseudocamptodactyly syndrome

(no data available)