Spondylometaphyseal dysplasia, Golden type

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOMETAPHYSEAL DYSPLASIA, RICHMOND TYPE
X-linked spondylometaphyseal dysplasia
Number of Symptoms 35
OrphanetNr: 168544
OMIM Id: 313420
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylometaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features 189 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0002694) Sclerosis of skull base 10 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0000639) Nystagmus 555 / 7739
9
 (HPO:0002167) Neurological speech impairment 308 / 7739
10
 (HPO:0001256) Intellectual disability, mild 141 / 7739
11
 (HPO:0000926) Platyspondyly 150 / 7739
12
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
13
 (HPO:0003273) Hip contracture 30 / 7739
14
 (HPO:0001182) Tapered finger 93 / 7739
15
 (HPO:0000768) Pectus carinatum 136 / 7739
16
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
17
 (HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
18
 (HPO:0006380) Knee flexion contracture 56 / 7739
19
 (HPO:0002808) Kyphosis 289 / 7739
20
 (HPO:0003037) Enlarged joints 4 / 7739
21
 (HPO:0003510) Severe short stature 90 / 7739
22
 (HPO:0001597) Abnormality of the nail 115 / 7739
23
 (HPO:0002878) Respiratory failure 57 / 7739
24
 (HPO:0002093) Respiratory insufficiency 410 / 7739
25
 (OMIM) Severe kyphosis 2 / 7739
26
 (OMIM) Stubby fingers 1 / 7739
27
 (HPO:0001417) X-linked inheritance 173 / 7739
28
 (OMIM) Mild thoracolumbar scoliosis 1 / 7739
29
 (OMIM) Spinal cord signs from subluxation of C2 1 / 7739
30
 (OMIM) Searching nystagmus 1 / 7739
31
 (OMIM) Marked contractures of knees and hips 1 / 7739
32
 (OMIM) Short fingernails 1 / 7739
33
 (OMIM) Severe dwarfism 1 / 7739
34
 (OMIM) Mild psychomotor retardation 3 / 7739
35
 (OMIM) Lacy ossification of longbone metaphyses and iliac crests 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: