Spondylocarpotarsal synostosis

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOCARPOTARSAL SYNDROME
SYNSPONDYLISM, CONGENITAL
VERTEBRAL FUSION WITH CARPAL COALITION
SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR
SCT
Synspondylism
Number of Symptoms 48
OrphanetNr: 3275
OMIM Id: 272460
ICD-10: Q76.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 24 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Filamin-related bone disorder
 -Rare genetic disease
Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
2
 (HPO:0000107) Renal cyst 126 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
5
 (HPO:0000283) Broad face 12 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000455) Broad nasal tip 67 / 7739
8
 (HPO:0003196) Short nose 264 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000463) Anteverted nares 305 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0007961) Rarefaction of retinal pigmentation 1 / 7739
13
 (HPO:0000518) Cataract 454 / 7739
14
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
15
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
16
 (HPO:0000410) Mixed hearing impairment 22 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
18
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
19
 (HPO:0000384) Preauricular skin tag 62 / 7739
20
 (HPO:0008456) C2-C3 subluxation 1 / 7739
21
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
22
 (HPO:0009702) Carpal synostosis 26 / 7739
23
 (HPO:0002650) Scoliosis 705 / 7739
24
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
25
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
26
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
27
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
28
 (HPO:0003305) Block vertebrae 7 / 7739
29
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
30
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
31
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
32
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
33
 (HPO:0001763) Pes planus 176 / 7739
34
 (HPO:0002948) Vertebral fusion 28 / 7739
35
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
36
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
37
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
38
 (HPO:0008368) Tarsal synostosis 21 / 7739
39
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
40
 (HPO:0003498) Disproportionate short stature 28 / 7739
41
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
42
 (OMIM) Broad, square nasal tip 1 / 7739
43
 (OMIM) Decreased range of motion at elbows 1 / 7739
44
 (OMIM) Bilateral proximal femoral epiphyseal dysplasia 1 / 7739
45
 (OMIM) Narrowing of retinal vessels 3 / 7739
46
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
47
 (OMIM) Unilateral unsegmented bar 1 / 7739
48
 (OMIM) Round, broad face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wiles et al. (1992) used the designation congenital synspondylism for a form of congenital familial extensive vertebral anomalies (CFEVA). They suggested that this represents an entity separate from spondylocostal dysplasia (SCD; 122600) and spondylothoracic dysplasia (STD; 277300). They ...
Molecular genetics OMIM In 4 unrelated SCT families, Krakow et al. (2004) found that affected individuals were either homozygous or compound heterozygous for nonsense mutations in the FLNB gene (603381). In all 4 families, the segregation of the mutations was compatible ...