OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: OSMD
Number of Symptoms 28
OrphanetNr:
OMIM Id: 615198
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001327) Photomyoclonic seizures 125 / 7739
2
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
3
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0100923) Clavicular sclerosis 3 / 7739
6
(HPO:0100255) Metaphyseal dysplasia 26 / 7739
7
(HPO:0003155) Elevated alkaline phosphatase rare [HPO:skoehler] 52 / 7739
8
(HPO:0010547) Muscle flaccidity 466 / 7739
9
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
10
(HPO:0001252) Muscular hypotonia 990 / 7739
11
(HPO:0001324) Muscle weakness 859 / 7739
12
(OMIM) Osteosclerosis of the anterior and posterior ribs 1 / 7739
13
(OMIM) Osteosclerosis of the iliac crests 1 / 7739
14
(OMIM) Elevated urinary pyridinoline and deoxypyridinoline 1 / 7739
15
(OMIM) Osteosclerosis of the scapulae 1 / 7739
16
(OMIM) less than 3rd centile (in one patient) 1 / 7739
17
(OMIM) Osteosclerosis of the ischium 1 / 7739
18
(OMIM) Osteopenic shafts of long bones 1 / 7739
19
(OMIM) Osteosclerosis of the pubic bone 1 / 7739
20
(OMIM) Spastic paraplegia, later onset (in one patient) 1 / 7739
21
(OMIM) Osteosclerosis of the calcaneus 1 / 7739
22
(OMIM) Osteosclerosis of the talus 1 / 7739
23
(OMIM) Elevated AST (aspartate aminotransferase) and CPK (creatine phosphokinase) 1 / 7739
24
(OMIM) Osteosclerosis of vertebrae 1 / 7739
25
(OMIM) Osteosclerosis in short tubular bones of the hands 1 / 7739
26
(OMIM) Osteosclerosis of the metaphyses of the long bones of the upper and lower extremities 1 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) No osteosclerosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteosclerotic metaphyseal dysplasia is a rare condition characterized by developmental delay, hypotonia, and distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. The skull appears ...
Clinical Description OMIM Nishimura and Kozlowski (1993) reported a Japanese sister and brother, aged 11 months and 15 years, respectively, with mental retardation, hypotonia, and unique radiographic changes consisting of peripheral osteosclerosis primarily affecting the metaphyses of the long bones. Other ...