Spondyloepimetaphyseal dysplasia with joint laxity

General Information (adopted from Orphanet):

Synonyms, Signs: SEMDJL1
SEMDJL
SEMD-JL
Spondyloepimetaphyseal dysplasia with joint laxity type 1
Number of Symptoms 114
OrphanetNr: 93359
OMIM Id: 271640
ICD-10: Q77.7
UMLs: C0432243
MeSH:
MedDRA:
Snomed: 254100000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of O-xylosylglycan synthesis
 -Rare genetic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000175) Cleft palate 31% [HPO] 349 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0000300) Oval face 5 / 7739
5
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
6
 (HPO:0002209) Sparse scalp hair 59 / 7739
7
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
8
 (HPO:0000218) High palate 12% [HPO] 356 / 7739
9
 (HPO:0011341) Long upper lip 5 / 7739
10
 (HPO:0011220) Prominent forehead 137 / 7739
11
 (HPO:0000272) Malar flattening 277 / 7739
12
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
13
 (HPO:0012368) Flat face 106 / 7739
14
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
15
 (HPO:0008012) Congenital myopia 2 / 7739
16
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
17
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
18
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
19
 (HPO:0010550) Paraplegia 10 / 7739
20
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
21
 (HPO:0000939) Osteoporosis 129 / 7739
22
 (HPO:0003100) Slender long bone 45 / 7739
23
 (HPO:0008818) Large iliac wings 1 / 7739
24
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
25
 (HPO:0002986) Radial bowing 27 / 7739
26
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
27
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
28
 (HPO:0001822) Hallux valgus 70 / 7739
29
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
30
 (HPO:0003026) Short long bone 51 / 7739
31
 (HPO:0002869) Flared iliac wings 20 / 7739
32
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
33
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
34
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
35
 (HPO:0002756) Pathologic fracture 30 / 7739
36
 (HPO:0003083) Dislocated radial head 35 / 7739
37
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
38
 (HPO:0000878) 11 pairs of ribs 19 / 7739
39
 (HPO:0010049) Short metacarpal 99 / 7739
40
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
41
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
42
 (HPO:0000926) Platyspondyly 150 / 7739
43
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
44
 (HPO:0000887) Cupped ribs 9 / 7739
45
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
46
 (HPO:0001840) Metatarsus adductus 49 / 7739
47
 (HPO:0002751) Kyphoscoliosis 131 / 7739
48
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
49
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
50
 (HPO:0001763) Pes planus 176 / 7739
51
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
52
 (HPO:0003048) Radial head subluxation 6 / 7739
53
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
54
 (HPO:0008824) Hypoplastic iliac body 3 / 7739
55
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
56
 (HPO:0003015) Flared metaphysis 44 / 7739
57
 (HPO:0009702) Carpal synostosis rare [HPO:skoehler] 26 / 7739
58
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
59
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
60
 (HPO:0002857) Genu valgum 80% [HPO:probinson] 144 / 7739
61
 (HPO:0000904) Flaring of rib cage 4 / 7739
62
 (HPO:0003016) Metaphyseal widening 41 / 7739
63
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
64
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
65
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
66
 (HPO:0002827) Hip dislocation 94 / 7739
67
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
68
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
69
 (HPO:0008828) Delayed proximal femoral epiphyseal ossification 2 / 7739
70
 (HPO:0100864) Short femoral neck 36 / 7739
71
 (HPO:0001388) Joint laxity 117 / 7739
72
 (HPO:0001371) Flexion contracture 220 / 7739
73
 (HPO:0002673) Coxa valga 57 / 7739
74
 (HPO:0003510) Severe short stature 90 / 7739
75
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
76
 (HPO:0004325) Decreased body weight 492 / 7739
77
 (HPO:0001027) Soft, doughy skin 3 / 7739
78
 (HPO:0001030) Fragile skin 25 / 7739
79
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
80
 (HPO:0001799) Short nail 12 / 7739
81
 (HPO:0001631) Atria septal defect 274 / 7739
82
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
83
 (HPO:0001629) Ventricular septal defect 316 / 7739
84
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
85
 (HPO:0001653) Mitral regurgitation 64 / 7739
86
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
87
 (HPO:0010547) Muscle flaccidity 466 / 7739
88
 (HPO:0001252) Muscular hypotonia 990 / 7739
89
 (HPO:0001324) Muscle weakness 859 / 7739
90
 (OMIM) Palmar wrinkling 1 / 7739
91
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
92
 (OMIM) Foreshortened nails 1 / 7739
93
 (OMIM) Hypermobile digits 1 / 7739
94
 (HPO:0002176) Spinal cord compression 15 / 7739
95
 (OMIM) Hand contracture (rare) 2 / 7739
96
 (OMIM) Short, slender long bones 1 / 7739
97
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
98
 (OMIM) Delayed ossification of femoral capital epiphyses 1 / 7739
99
 (OMIM) Mild skin hyperextensibility 1 / 7739
100
 (OMIM) Kyphoscoliosis, progressive 3 / 7739
101
 (OMIM) Prominent lesser trochanter 2 / 7739
102
 (OMIM) Gross spinal malalignment 1 / 7739
103
 (OMIM) Anterior beak of vertebral body 2 / 7739
104
 (OMIM) Narrow pubic bones 1 / 7739
105
 (OMIM) Epiphyseal dysplasia of femoral head 2 / 7739
106
 (HPO:0030043) Hip Subluxation 9 / 7739
107
 (OMIM) Thoracic asymmetry 2 / 7739
108
 (OMIM) Atrophic scarring 9 / 7739
109
 (OMIM) Restricted elbow movement 2 / 7739
110
 (OMIM) Abnormal trabecular pattern 1 / 7739
111
 (HPO:0011800) Midface retrusion 221 / 7739
112
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
113
 (OMIM) Elbow malalignment 2 / 7739
114
 (OMIM) Large, flared iliac wings 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes ...
Clinical Description OMIM Beighton and Kozlowski (1980) described a distinctive form of spondyloepimetaphyseal dysplasia with joint laxity and severe scoliosis in patients in South Africa. Beighton et al. (1984) reviewed the findings in their total series of 18 cases, which included ...
Molecular genetics OMIM By next-generation sequencing in 7 individuals, including 2 sibs, with SEMDJL1 from 5 unrelated Japanese families and a Singapore/Japanese family, Nakajima et al. (2013) identified possible mutations in the B3GALT6 gene. By direct sequencing of this gene in ...