Spondyloepimetaphyseal dysplasia with multiple dislocations

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD-MD
SEMDJL2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE
spondyloepimetaphyseal dysplasia with multiple dislocations, hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Number of Symptoms 77
OrphanetNr: 93360
OMIM Id: 603546
ICD-10: Q77.7
UMLs: C1863732
MeSH: C535784
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening 277 / 7739
2
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
3
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
4
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
5
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
6
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
7
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
10
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
11
 (HPO:0012297) Slender proximal phalanx of finger 1 / 7739
12
 (HPO:0006016) Delayed phalangeal epiphyseal ossification 1 / 7739
13
 (HPO:0012296) Slender distal phalanx of finger 1 / 7739
14
 (HPO:0100625) Enlarged thorax Frequent [Orphanet] 15 / 7739
15
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
16
 (HPO:0005107) Abnormality of the sacrum Frequent [Orphanet] 18 / 7739
17
 (HPO:0010301) Spinal dysraphism 14 / 7739
18
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
19
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
20
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
21
 (HPO:0003015) Flared metaphysis 44 / 7739
22
 (HPO:0006127) Long proximal phalanx of finger 1 / 7739
23
 (HPO:0003083) Dislocated radial head 35 / 7739
24
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
25
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
26
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
27
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
28
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
29
 (HPO:0005008) Large joint dislocations 1 / 7739
30
 (HPO:0005121) Posterior scalloping of vertebral bodies 4 / 7739
31
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
32
 (HPO:0008819) Narrow femoral neck 2 / 7739
33
 (HPO:0010582) Irregular epiphyses 12966527 IBIS 19 / 7739
34
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
35
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
36
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
37
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
38
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
39
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
40
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
41
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
42
 (HPO:0006454) Delayed patellar ossification 1 / 7739
43
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
44
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
45
 (HPO:0008457) Caudal interpedicular narrowing 1 / 7739
46
 (HPO:0001388) Joint laxity 117 / 7739
47
 (HPO:0012299) Long distal phalanx of finger 1 / 7739
48
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
49
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
50
 (HPO:0010585) Small epiphyses 16 / 7739
51
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
52
 (HPO:0001374) Congenital hip dislocation 51 / 7739
53
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
54
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
55
 (HPO:0005092) Streaky metaphyseal sclerosis 2 / 7739
56
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
57
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
58
 (HPO:0000977) Soft skin 23 / 7739
59
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
60
 (HPO:0002779) Tracheomalacia Frequent [Orphanet] 26 / 7739
61
 (HPO:0001602) Laryngeal stenosis Frequent [Orphanet] 21 / 7739
62
 (HPO:0001324) Muscle weakness 859 / 7739
63
 (HPO:0010547) Muscle flaccidity 466 / 7739
64
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
65
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
66
 (MedDRA:10070939) Wound healing normal 5 / 7739
67
 (OMIM) Sacral spinal dysraphism 1 / 7739
68
 (OMIM) Gracile metacarpals 1 / 7739
69
 (OMIM) Prominent distal phalangeal tufts 1 / 7739
70
 (OMIM) Irregular, flared metaphyses with streaky sclerosis 1 / 7739
71
 (OMIM) Long, slender middle and proximal phalanges 1 / 7739
72
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
73
 (OMIM) Small, flattened irregular epiphyses 1 / 7739
74
 (OMIM) Tapered ischia 1 / 7739
75
 (OMIM) Small flattened capital femoral epiphyses 1 / 7739
76
 (OMIM) Severe delay in phalangeal epiphyseal bone maturation 1 / 7739
77
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include ...
Clinical Description OMIM Hall et al. (1998) described 3 children from unrelated families who presented in infancy with hip dislocation and joint laxity and developed progressive deformity, particularly involving the knees, spine, and hips. Clinically, the facial appearance was normal in ...
Molecular genetics OMIM In affected members of a Korean family and 2 unrelated Korean patients with Hall-type spondyloepimetaphyseal dysplasia and joint laxity, previously studied by Kim et al. (2009), as well as 3 additional unrelated Korean patients, Min et al. (2011) ...