Dyggve-Melchior-Clausen disease

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 61
OrphanetNr: 239
OMIM Id: 223800
304950
ICD-10: Q77.7
UMLs: C0265286
MeSH: C535726
MedDRA:
Snomed: 82699004

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

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:0002692) Hypoplastic facial bones 5 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
4
 (HPO:0002681) Deformed sella turcica 4 / 7739
5
 (HPO:0002684) Thickened calvaria 32 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
8
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
9
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
10
 (HPO:0011344) Severe global developmental delay 46 / 7739
11
 (HPO:0002515) Waddling gait 56 / 7739
12
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
13
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
14
 (HPO:0006450) Multicentric ossification of proximal femoral epiphyses 2 / 7739
15
 (HPO:0001169) Broad palm 43 / 7739
16
 (HPO:0003311) Hypoplasia of the odontoid process Frequent [Orphanet] 34 / 7739
17
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
18
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
19
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
20
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
21
 (HPO:0002942) Thoracic kyphosis 14 / 7739
22
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
23
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
24
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
25
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
26
 (HPO:0004997) Multicentric ossification of proximal humeral epiphyses 2 / 7739
27
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
28
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
29
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
30
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
31
 (HPO:0000911) Flat glenoid fossa 4 / 7739
32
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
33
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
34
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
35
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
36
 (HPO:0008786) Iliac crest serration 4 / 7739
37
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
38
 (HPO:0000884) Prominent sternum 11 / 7739
39
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
40
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
41
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
42
 (HPO:0003180) Flat acetabular roof 25 / 7739
43
 (HPO:0001769) Broad foot 31 / 7739
44
 (HPO:0000914) Shield chest 14 / 7739
45
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
46
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
47
 (HPO:0003416) Spinal canal stenosis Frequent [Orphanet] 28 / 7739
48
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
49
 (HPO:0010743) Short metatarsal 56 / 7739
50
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
51
 (HPO:0003834) Shoulder dislocation Occasional [Orphanet] 28 / 7739
52
 (HPO:0010049) Short metacarpal 99 / 7739
53
 (HPO:0001552) Barrel-shaped chest 31 / 7739
54
 (HPO:0003183) Wide pubic symphysis 5 / 7739
55
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
56
 (HPO:0012385) Camptodactyly 113 / 7739
57
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
58
 (HPO:0008897) Postnatal growth retardation 113 / 7739
59
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: