MCID: ULN007
MIFTS: 17

Ulna Metaphyseal Dysplasia Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ulna Metaphyseal Dysplasia Syndrome

MalaCards integrated aliases for Ulna Metaphyseal Dysplasia Syndrome:

Name: Ulna Metaphyseal Dysplasia Syndrome 56 52 58 71
Hereditary Bone Dysplasia with Characteristic Bowing and Thickening of the Distal Ulna 52
Metaphyseal Chondrodysplasia, Rosenberg Type 56
Metaphyseal Chondroplasia Rosenberg Type 52
Rosenberg Lohr Syndrome 52
Rosenberg-Lohr Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ulna metaphyseal dysplasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 191420
MESH via Orphanet 44 C536935
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 72 C1860615
Orphanet 58 ORPHA1837
MedGen 41 C1860615
UMLS 71 C1860615

Summaries for Ulna Metaphyseal Dysplasia Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1837 Definition Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ulna Metaphyseal Dysplasia Syndrome, is also known as hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna. Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and abnormality of the ulna

More information from OMIM: 191420

Related Diseases for Ulna Metaphyseal Dysplasia Syndrome

Symptoms & Phenotypes for Ulna Metaphyseal Dysplasia Syndrome

Human phenotypes related to Ulna Metaphyseal Dysplasia Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
3 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
5 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
8 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
9 abnormality of fibula morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002991
10 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
11 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
12 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
13 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
14 abnormality of the dentition 58 Occasional (29-5%)
15 hypercalcemia 31 HP:0003072
16 abnormality of dental morphology 58 Occasional (29-5%)
17 abnormality of the vertebral column 31 HP:0000925
18 coxa valga 31 HP:0002673
19 wrist pain 31 HP:0030836

Symptoms via clinical synopsis from OMIM:

56
Joints:
coxa valga

Misc:
onset at puberty

Lab:
slightly elevated serum calcium

Limbs:
wrist pain
thickened wrists proximal to styloid process of ulna

Radiology:
noncalcified cone-like cartilaginous islands protruding into the metaphysis
thickening ('roofing') of the dorsum sellae
variable dysplasia of metatarsals, metacarpals and distal fibula
delayed skeletal development
abnormal vertebral column

Clinical features from OMIM:

191420

Drugs & Therapeutics for Ulna Metaphyseal Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Ulna Metaphyseal Dysplasia Syndrome

Genetic Tests for Ulna Metaphyseal Dysplasia Syndrome

Anatomical Context for Ulna Metaphyseal Dysplasia Syndrome

MalaCards organs/tissues related to Ulna Metaphyseal Dysplasia Syndrome:

40
Bone

Publications for Ulna Metaphyseal Dysplasia Syndrome

Articles related to Ulna Metaphyseal Dysplasia Syndrome:

# Title Authors PMID Year
1
A new hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna. 56 61
3732330 1986
2
A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg. 56
12707959 2003
3
[A "calcified suprasellar mass" in association with spondylometaphyseal dysplasia]. 56
4447311 1974

Variations for Ulna Metaphyseal Dysplasia Syndrome

Expression for Ulna Metaphyseal Dysplasia Syndrome

Search GEO for disease gene expression data for Ulna Metaphyseal Dysplasia Syndrome.

Pathways for Ulna Metaphyseal Dysplasia Syndrome

GO Terms for Ulna Metaphyseal Dysplasia Syndrome

Sources for Ulna Metaphyseal Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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