MCID: MTP023
MIFTS: 17

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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MalaCards based summary: Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, is also known as metaphyseal dysplasia - maxillary hypoplasia - brachydacty, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, beaked nose and thin/retracted lips. An important gene associated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly is RUNX2 (runt-related transcription factor 2). Affiliated tissues include bone.

Description from OMIM:46 156510

Aliases & Classifications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
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Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, Aliases & Descriptions:

Name: Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 46
 
Metaphyseal Dysplasia - Maxillary Hypoplasia - Brachydacty 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
metaphyseal dysplasia - maxillary hypoplasia - brachydacty:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 156510
ICD10 via Orphanet26 Q77.8
ICD1025 Q78.5

Related Diseases for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Symptoms for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Symptoms by clinical synopsis from OMIM:

156510

Clinical features from OMIM:

156510

Symptoms:

48 (show all 17)
  • micrognathia/retrognathia/micrognathism/retrognathism
  • beaked nose
  • thin/retracted lips
  • short philtrum
  • dental staining anomaly/spotted teeth/erythrodontia
  • short hand/brachydactyly
  • metaphyseal anomaly
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • abnormal vertebral size/shape
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • camptodactyly of fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • mutiple fractures/bone fragility

HPO human phenotypes related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

(show all 31)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 short philtrum hallmark (90%) HP:0000322
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 short stature hallmark (90%) HP:0004322
8 abnormality of dental color hallmark (90%) HP:0011073
9 abnormality of the femur typical (50%) HP:0002823
10 abnormality of the humerus typical (50%) HP:0003063
11 abnormal form of the vertebral bodies typical (50%) HP:0003312
12 reduced bone mineral density typical (50%) HP:0004349
13 craniofacial hyperostosis typical (50%) HP:0004493
14 camptodactyly of finger typical (50%) HP:0100490
15 cerebral cortical atrophy occasional (7.5%) HP:0002120
16 recurrent fractures occasional (7.5%) HP:0002757
17 autosomal dominant inheritance HP:0000006
18 thin vermilion border HP:0000233
19 short philtrum HP:0000322
20 hypoplasia of the maxilla HP:0000327
21 convex nasal ridge HP:0000444
22 platyspondyly HP:0000926
23 flared metaphyses HP:0003015
24 short middle phalanx of the 5th finger HP:0004220
25 short stature HP:0004322
26 osteoporosis of vertebrae HP:0005625
27 multiple small vertebral fractures HP:0005877
28 premature loss of teeth HP:0006480
29 short middle phalanx of the 2nd finger HP:0009577
30 short 5th metacarpal HP:0010047
31 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Drug clinical trials:

Search ClinicalTrials for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Search NIH Clinical Center for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Genetic Tests for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Anatomical Context for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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MalaCards organs/tissues related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

32
Bone

Animal Models for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without... or affiliated genes

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Publications for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Clinvar genetic disease variations for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

6
id Gene Name Type Significance SNP ID Assembly Location
1RUNX2RUNX2, 105-KB DUP, EX3-5duplicationPathogenic

Expression for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Expression patterns in normal tissues for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly

Search GEO for disease gene expression data for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly.

Pathways for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Compounds for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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GO Terms for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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Products for genes affiliated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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  • Antibodies
  • Proteins
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Sources for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet