DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 37
OrphanetNr:
OMIM Id: 304950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck 345 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0000248) Brachycephaly 222 / 7739
4
 (HPO:0002684) Thickened calvaria 32 / 7739
5
 (HPO:0000280) Coarse facial features 189 / 7739
6
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
7
 (HPO:0003796) Irregular iliac crest 2 / 7739
8
 (HPO:0004590) Hypoplastic sacrum 4 / 7739
9
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
10
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
11
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
12
 (HPO:0002650) Scoliosis 705 / 7739
13
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
14
 (HPO:0002942) Thoracic kyphosis 14 / 7739
15
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
16
 (HPO:0010049) Short metacarpal 99 / 7739
17
 (HPO:0001822) Hallux valgus 70 / 7739
18
 (HPO:0005033) Distal ulnar hypoplasia 4 / 7739
19
 (HPO:0002857) Genu valgum 144 / 7739
20
 (HPO:0000926) Platyspondyly 150 / 7739
21
 (HPO:0001552) Barrel-shaped chest 31 / 7739
22
 (HPO:0003175) Hypoplastic ischia 12 / 7739
23
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
24
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
25
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
26
 (HPO:0100864) Short femoral neck 36 / 7739
27
 (HPO:0002812) Coxa vara 58 / 7739
28
 (HPO:0000884) Prominent sternum 11 / 7739
29
 (HPO:0003498) Disproportionate short stature 28 / 7739
30
 (OMIM) Restricted joint mobility 2 / 7739
31
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
32
 (OMIM) Pronounced lumbar lordosis 1 / 7739
33
 (OMIM) Normal intelligence 81 / 7739
34
 (OMIM) Narrow joint spaces 2 / 7739
35
 (OMIM) Small ilia 5 / 7739
36
 (MedDRA:10060042) Head circumference normal 5 / 7739
37
 (OMIM) Marked pneumatization of paranasal sinuses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: