Trismus - pseudocamptodactyly

General Information (adopted from Orphanet):

Synonyms, Signs: TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS
DA7
Dutch-Kentucky syndrome
Hecht-Beals syndrome
Distal arthrogryposis type 7
hecht syndrome
Number of Symptoms 41
OrphanetNr: 3377
OMIM Id: 158300
ICD-10: M24.5
Q68.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0004482) Relative macrocephaly 44 / 7739
2
 (HPO:0002002) Deep philtrum rare [HPO:skoehler] 42 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
5
 (HPO:0000211) Trismus 9 / 7739
6
 (HPO:0000324) Facial asymmetry 57 / 7739
7
 (HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
8
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
9
 (HPO:0002015) Dysphagia 301 / 7739
10
 (HPO:0001765) Hammertoe 63 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (HPO:0001763) Pes planus 176 / 7739
13
 (HPO:0002827) Hip dislocation 94 / 7739
14
 (HPO:0001838) Rocker bottom foot 85 / 7739
15
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
16
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
17
 (HPO:0005684) Distal arthrogryposis 31 / 7739
18
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
19
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
20
 (HPO:0001762) Talipes equinovarus 309 / 7739
21
 (HPO:0001840) Metatarsus adductus 49 / 7739
22
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
23
 (HPO:0001822) Hallux valgus 70 / 7739
24
 (HPO:0011968) Feeding difficulties 240 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
27
 (OMIM) Flexion of fingers when hand dorsiflexed (pseudocamptodactyly) 2 / 7739
28
 (OMIM) Shortening of various muscle-tendon groups in legs 1 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (OMIM) Enlarged coronoid process 1 / 7739
31
 (HPO:0001355) Megalencephaly 39 / 7739
32
 (OMIM) Facial asymmetry, mild 5 / 7739
33
 (OMIM) Shortening of flexor profundus muscle-tendon unit 1 / 7739
34
 (OMIM) Downturning toes 1 / 7739
35
 (OMIM) Vertical talipes 1 / 7739
36
 (OMIM) Reduced elbow supination 1 / 7739
37
 (OMIM) Long chin (rare) 1 / 7739
38
 (OMIM) Limited mouth opening 2 / 7739
39
 (OMIM) Interphalangeal webbing 1 / 7739
40
 (OMIM) Short gastrocnemius 1 / 7739
41
 (OMIM) Shortening of various muscle-tendon groups in feet 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hecht and Beals (1969) described father and 4 children (2 sons, 2 daughters) with inability to open the mouth completely with resulting problems in mastication, short finger-flexor tendons such that dorsiflexion of the wrist resulted in camptodactyly, and ...
Molecular genetics OMIM In affected members of 2 families with trismus-pseudocamptodactyly syndrome (Mabry et al., 1974; Lefaivre and Aitchison, 2003), Veugelers et al. (2004) identified an arg674-to-gln mutation in the MYH8 gene (R674Q; 160741.0001). The R674Q mutation was also identified in ...