MDMHB
MCID: MTP023
MIFTS: 27

Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly (MDMHB)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

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

MalaCards integrated aliases for Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

Name: Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 57 12 72 13 70
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 29 6
Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome 12 58
Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly 12 20
Mdmhb 57 72
Dysplasia, Metaphyseal, with Maxillary Hypoplasia and Brachydactyly 39

Characteristics:

Orphanet epidemiological data:

58
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111513
OMIM® 57 156510
MeSH 44 D001848
ICD10 via Orphanet 33 Q77.8
Orphanet 58 ORPHA2504
UMLS 70 C3549874

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2504 Definition Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.

MalaCards based summary : Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly, also known as metaphyseal dysplasia with maxillary hypoplasia and brachydactyly, is related to metaphyseal dysplasia and brachydactyly. An important gene associated with Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly is RUNX2 (RUNX Family Transcription Factor 2). Affiliated tissues include cortex, and related phenotypes are short stature and short 5th metacarpal

Disease Ontology : 12 An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has material basis in heterozygous duplication of RUNX2 on chromosome 6p21.1.

OMIM® : 57 Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013). (156510) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly: An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.

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

Diseases related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 29.4 RUNX2 LOC109611589
2 brachydactyly 29.3 RUNX2 LOC109611589
3 osteochondrodysplasia 9.9
4 cleidocranial dysplasia 9.5 RUNX2 LOC109611589

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 short 5th metacarpal 31 HP:0010047
3 hypoplasia of the maxilla 31 HP:0000327
4 platyspondyly 31 HP:0000926
5 short philtrum 31 HP:0000322
6 convex nasal ridge 31 HP:0000444
7 thin vermilion border 31 HP:0000233
8 osteoporosis of vertebrae 31 HP:0005625
9 premature loss of teeth 31 HP:0006480
10 metaphyseal dysplasia 31 HP:0100255
11 short middle phalanx of the 5th finger 31 HP:0004220
12 flared metaphysis 31 HP:0003015
13 short middle phalanx of the 2nd finger 31 HP:0009577
14 multiple small vertebral fractures 31 HP:0005877

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth:
short stature

Facies:
short philtrum
maxillary hypoplasia

Nose:
beaked nose

Mouth:
thin lips

Radiology:
platyspondyly
osteoporosis of vertebrae
multiple small vertebral fractures
enlarged sternal ends of clavicles
flared metaphyses with thin cortex and osteoporosis, esp
more
Skel:
metaphyseal dysplasia

Teeth:
early tooth loss
dystrophic yellowish teeth

Limbs:
short fifth metacarpal
short middle phalanx of fingers 2 and 5

Clinical features from OMIM®:

156510 (Updated 20-May-2021)

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

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

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

Genetic tests related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

# Genetic test Affiliating Genes
1 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 29 RUNX2

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

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

40
Cortex

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

Articles related to Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly:

# Title Authors PMID Year
1
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 6 57 61
29891876 2018
2
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. 61 57 6
23290074 2013
3
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant. 61 57
25311905 2014
4
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. 57
7137223 1982

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RUNX2 and overlap with 2 gene(s) NC_000006.11:g.45308920_45413885dup Duplication Pathogenic 40202 GRCh37: 6:45308920-45413885
GRCh38: 6:45341183-45446148
2 RUNX2 , LOC109611589 NM_001024630.4(RUNX2):c.217del (p.Ala73fs) Deletion Pathogenic 548612 rs1554384228 GRCh37: 6:45390487-45390487
GRCh38: 6:45422750-45422750
3 RUNX2 NM_001024630.3:c.(58+1_59-269)_(859+1_860-1)dup Duplication Pathogenic 691870 GRCh37:
GRCh38:
4 RUNX2 NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) SNV Uncertain significance 634441 rs768473049 GRCh37: 6:45514855-45514855
GRCh38: 6:45547118-45547118
5 RUNX2 , LOC109611589 NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) Insertion Uncertain significance 548611 rs1338909353 GRCh37: 6:45390504-45390505
GRCh38: 6:45422767-45422768

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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