Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

General Information (adopted from Orphanet):

Synonyms, Signs: MDMHB
Number of Symptoms 32
OrphanetNr: 2504
OMIM Id: 156510
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

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:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
2
 (HPO:0006480) Premature loss of teeth 23 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
7
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
8
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
9
 (HPO:0010047) Short 5th metacarpal 8 / 7739
10
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
11
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
12
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
13
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
14
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
15
 (HPO:0000926) Platyspondyly 150 / 7739
16
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
17
 (HPO:0005877) Multiple small vertebral fractures 1 / 7739
18
 (HPO:0003015) Flared metaphysis 44 / 7739
19
 (HPO:0005625) Osteoporosis of vertebrae 1 / 7739
20
 (HPO:0009577) Short middle phalanx of the 2nd finger 4 / 7739
21
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
22
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
23
 (HPO:0003063) Abnormality of the humerus Frequent [Orphanet] 36 / 7739
24
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) proximal humerus, distal femur and proximal tibia 1 / 7739
28
 (OMIM) Dystrophic yellowish teeth 1 / 7739
29
 (OMIM) Enlarged sternal ends of clavicles 1 / 7739
30
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
31
 (OMIM) Short middle phalanx of fingers 2 and 5 1 / 7739
32
 (OMIM) Flared metaphyses with thin cortex and osteoporosis, esp 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Halal et al. (1982) reported a characteristic syndrome in 4 generations of a French Canadian family. The features were metaphyseal dysplasia with short stature (about 152 cm in both sexes); beaked nose, short philtrum, thin lips, maxillary hypoplasia, ...
Molecular genetics OMIM In a 4-generation French Canadian family with MDMHB, Moffatt et al. (2013) analyzed SNP array data for copy number variation and found that all affected individuals had a 105-kb duplication within the linked region on chromosome 6 (Chr6:45,308,920-45,413,885, ...