Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification

General Information (adopted from Orphanet):

Synonyms, Signs: SMED, TYPE II
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
SMED-SL
SMED-SL/AC
SMED, SHORT LIMB-HAND TYPE
SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
Number of Symptoms 72
OrphanetNr: 93358
OMIM Id: 271665
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: 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:0000464) Abnormality of the neck 31 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000520) Proptosis 192 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0003085) Long fibula 5 / 7739
12
 (HPO:0005462) Calcification of falx cerebri 6 / 7739
13
 (HPO:0002869) Flared iliac wings 20 / 7739
14
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
15
 (HPO:0010049) Short metacarpal 99 / 7739
16
 (HPO:0003026) Short long bone 51 / 7739
17
 (HPO:0002987) Elbow flexion contracture 64 / 7739
18
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
19
 (HPO:0002650) Scoliosis 705 / 7739
20
 (HPO:0006600) Progressive calcification of costochondral cartilage 1 / 7739
21
 (HPO:0000907) Anterior rib cupping 12 / 7739
22
 (HPO:0009164) Abnormal calcification of the carpal bones 1 / 7739
23
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
24
 (HPO:0000767) Pectus excavatum 244 / 7739
25
 (HPO:0002979) Bowing of the legs 28 / 7739
26
 (HPO:0000926) Platyspondyly 150 / 7739
27
 (HPO:0003320) C1-C2 subluxation 5 / 7739
28
 (HPO:0000773) Short ribs 70 / 7739
29
 (HPO:0006009) Broad phalanx 11 / 7739
30
 (HPO:0001230) Broad metacarpals 17 / 7739
31
 (HPO:0002827) Hip dislocation 94 / 7739
32
 (HPO:0010655) Epiphyseal stippling 32 / 7739
33
 (HPO:0009803) Short phalanx of finger 79 / 7739
34
 (HPO:0001591) Bell-shaped thorax 35 / 7739
35
 (HPO:0002983) Micromelia 130 / 7739
36
 (HPO:0001840) Metatarsus adductus 49 / 7739
37
 (HPO:0002787) Tracheal calcification 3 / 7739
38
 (HPO:0009875) Triangular shaped distal phalanges of the hand 1 / 7739
39
 (HPO:0003467) Atlantoaxial instability 6 / 7739
40
 (HPO:0000922) Posterior rib cupping 6 / 7739
41
 (HPO:0006380) Knee flexion contracture 56 / 7739
42
 (HPO:0003015) Flared metaphysis 44 / 7739
43
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
44
 (HPO:0006532) Recurrent pneumonia 48 / 7739
45
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
46
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
47
 (HPO:0010547) Muscle flaccidity 466 / 7739
48
 (HPO:0001252) Muscular hypotonia 990 / 7739
49
 (HPO:0001324) Muscle weakness 859 / 7739
50
 (OMIM) Calcified stylomandibular ligaments 1 / 7739
51
 (HPO:0002176) Spinal cord compression 15 / 7739
52
 (OMIM) Broad nares 2 / 7739
53
 (OMIM) Short sciatic notch 1 / 7739
54
 (OMIM) Bronchi calcifications 1 / 7739
55
 (OMIM) Calcified cricoid cartilage 1 / 7739
56
 (OMIM) Short, broad tubular bones 2 / 7739
57
 (OMIM) Triangular shaped distal phalanges 1 / 7739
58
 (OMIM) Short, wide metacarpals (wider distally than proximally) 1 / 7739
59
 (OMIM) Calcified thyroid cartilage 1 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (HPO:0030043) Hip Subluxation 9 / 7739
62
 (OMIM) Short, wide phalanges 1 / 7739
63
 (OMIM) Calcified body and greater cornua of hyoid 1 / 7739
64
 (OMIM) Trachea calcifications 1 / 7739
65
 (OMIM) Calcified coracoclavicular ligament 1 / 7739
66
 (OMIM) Calcified styloid process 1 / 7739
67
 (OMIM) Calcified coracoacromial ligament 1 / 7739
68
 (OMIM) Short limbs 17 / 7739
69
 (HPO:0003396) Syringomyelia 16 / 7739
70
 (OMIM) Short ischia 2 / 7739
71
 (HPO:0011800) Midface retrusion 221 / 7739
72
 (OMIM) Calcified patellae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Borochowitz et al. (1993) described 3 cases of a 'new' severe short-limb bone dysplasia, which they termed spondylometaepiphyseal dysplasia, short limb-hand type. The 3 unrelated patients were born into 2 separate Sephardic Jewish families and a Puerto Rican ...
Molecular genetics OMIM In 8 patients from 7 different consanguineous families with SMED-SL, Bargal et al. (2009) identified missense mutations in exon 17 of the DDR2 gene: 6 Arab Muslims from the Jerusalem area were homozygous for an R752C substitution (191311.0001), ...