Sheldon-Hall syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
SHELDON-HALL SYNDROME
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
DA2B
SHS
FSSV
freeman-sheldon syndrome variant
Distal Arthrogryposis type 2B
Number of Symptoms 53
OrphanetNr: 1147
OMIM Id: 601680
ICD-10: Q74.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000160) Narrow mouth 188 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0000303) Mandibular prognathia 179 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0000465) Webbed neck Very frequent [Orphanet] 81 / 7739
8
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0005272) Prominent nasolabial fold 4 / 7739
13
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
14
 (HPO:0000325) Triangular face 91 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
 (HPO:0100830) Round ear Frequent [Orphanet] 7 / 7739
17
 (HPO:0000598) Abnormality of the ear 98 / 7739
18
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
19
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
20
 (HPO:0006109) Absent phalangeal crease 4 / 7739
21
 (HPO:0001762) Talipes equinovarus 309 / 7739
22
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
23
 (HPO:0001850) Abnormality of the tarsal bones Frequent [Orphanet] 40 / 7739
24
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
25
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
26
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
27
 (HPO:0001371) Flexion contracture 220 / 7739
28
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
29
 (HPO:0001838) Rocker bottom foot 85 / 7739
30
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
31
 (HPO:0003049) Ulnar deviation of the wrist 6 / 7739
32
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
33
 (HPO:0001840) Metatarsus adductus 49 / 7739
34
 (HPO:0100490) Camptodactyly of finger 212 / 7739
35
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
36
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
37
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
38
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
39
 (HPO:0005684) Distal arthrogryposis 31 / 7739
40
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
41
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
42
 (OMIM) Thumb adduction 1 / 7739
43
 (OMIM) Small, prominent chin 1 / 7739
44
 (OMIM) Contractures of the metacarpophalangeal joints 1 / 7739
45
 (OMIM) Overriding fingers (neonate) 2 / 7739
46
 (OMIM) Ulnar deviation 5 / 7739
47
 (OMIM) Contractures of the proximal interphalangeal (PIP) joints 1 / 7739
48
 (OMIM) Ulnar wrist deviation 1 / 7739
49
 (OMIM) Hypoplastic or absent interphalangeal creases 1 / 7739
50
 (OMIM) Precocious arthrosis 1 / 7739
51
 (OMIM) Severe camptodactyly 2 / 7739
52
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
53
 (OMIM) Attached ear lobules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. ...
Clinical Description OMIM Krakowiak et al. (1997) reported a family in which 21 individuals in 5 generations were affected with a disorder with features intermediate between DA1 and FSS, which the authors termed DA2B. Clinical features included a triangular face, downslanting ...
Molecular genetics OMIM Sung et al. (2003) determined that DA2B is caused by mutations in the TNNI2 gene (191043.0001-191043.0002).

Sung et al. (2003) determined that DA2B can also be caused by mutation in the TNNT3 gene (600692.0001).

...