Ulna metaphyseal dysplasia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE
Rosenberg-Lohr syndrome
Number of Symptoms 26
OrphanetNr: 1837
OMIM Id: 191420
ICD-10: Q78.5
UMLs: C1860615
MeSH: C536935
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
3
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
4
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
5
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
6
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
7
 (HPO:0002829) Arthralgia 79 / 7739
8
 (HPO:0005059) Arthralgia/arthritis 141 / 7739
9
 (HPO:0002673) Coxa valga 57 / 7739
10
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
11
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
12
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
13
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
14
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
15
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
16
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
17
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
18
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
19
 (HPO:0003072) Hypercalcemia 36 / 7739
20
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Thickening ('roofing') of the dorsum sellae 1 / 7739
23
 (OMIM) Noncalcified cone-like cartilaginous islands protruding into the metaphysis 1 / 7739
24
 (OMIM) Variable dysplasia of metatarsals, metacarpals and distal fibula 1 / 7739
25
 (OMIM) Slightly elevated serum calcium 1 / 7739
26
 (OMIM) Thickened wrists proximal to styloid process of ulna 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: