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Trismus - pseudocamptodactyly
1 OMIM reference -
2 associated genes
27 connected diseases
8 signs/symptoms
Disease Type of connection
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Typical nemaline myopathy
Cap myopathy
Carney complex-trismus-pseudocamptodactyly syndrome
Digitotalar dysmorphism
Sheldon-Hall syndrome
Amyotrophic lateral sclerosis
Intermediate nemaline myopathy
Inflammatory myofibroblastic tumor
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Cowden syndrome
Proteus syndrome
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Young adult-onset Parkinsonism
Congenital myopathy with excess of thin filaments
Severe congenital nemaline myopathy
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Extraskeletal myxoid chondrosarcoma
Precursor T-cell acute lymphoblastic leukemia
Translocation renal cell carcinoma
Synonym(s):
- Distal arthrogryposis type 7
- Dutch-Kentucky syndrome
- Hecht syndrome
- Hecht-Beals syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Gene symbol UniProt reference OMIM reference
MYH8 P13535160741
TPM2 P07951190990
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