Metatropic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: metatropic dwarfism
Number of Symptoms 64
OrphanetNr: 2635
OMIM Id: 156530
ICD-10: Q77.8
UMLs: C0265281
MeSH: C537356
MedDRA:
Snomed: 22764001

Prevalence, inheritance and age of onset:

Prevalence: 80 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
TRPV4-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
5
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
6
 (HPO:0003477) Peripheral axonal neuropathy rare [HPO:skoehler] 62 / 7739
7
 (HPO:0009473) Joint contracture of the hand 84 / 7739
8
 (HPO:0003911) Flared humeral metaphysis 3 / 7739
9
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
10
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
11
 (HPO:0005108) Abnormality of the intervertebral disk Very frequent [Orphanet] 12 / 7739
12
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
13
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
14
 (HPO:0002831) Long coccyx 1 / 7739
15
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
16
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
17
 (HPO:0100818) Long thorax Very frequent [Orphanet] 10 / 7739
18
 (HPO:0002879) Anisospondyly 2 / 7739
19
 (HPO:0002834) Flared femoral metaphysis 6 / 7739
20
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
21
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
22
 (HPO:0002766) Relatively short spine 1 / 7739
23
 (HPO:0002822) Hyperplasia of the femoral trochanters 1 / 7739
24
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
25
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
26
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
27
 (HPO:0003562) Abnormal metaphyseal vascular invasion 1 / 7739
28
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
29
 (HPO:0002825) Caudal appendage 1 / 7739
30
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
31
 (HPO:0009381) Short finger 45 / 7739
32
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
33
 (HPO:0000926) Platyspondyly 150 / 7739
34
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
35
 (HPO:0003332) Absent primary metaphyseal spongiosa 1 / 7739
36
 (HPO:0001371) Flexion contracture 220 / 7739
37
 (HPO:0003336) Abnormal enchondral ossification 1 / 7739
38
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
39
 (HPO:0002810) Dumbbell-shaped metaphyses 1 / 7739
40
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
41
 (HPO:0002826) Halberd-shaped pelvis 1 / 7739
42
 (HPO:0001989) Fetal akinesia sequence rare [HPO:skoehler] 14 / 7739
43
 (HPO:0001558) Decreased fetal movement 74 / 7739
44
 (HPO:0003510) Severe short stature 90 / 7739
45
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
46
 (HPO:0002878) Respiratory failure 57 / 7739
47
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
48
 (HPO:0002093) Respiratory insufficiency 410 / 7739
49
 (OMIM) Flared femurs and humeri 1 / 7739
50
 (OMIM) Arrest of endochondral ring structures with persistence of circumferential growth 1 / 7739
51
 (OMIM) Dwarfism, short limbed, recognizable at birth 1 / 7739
52
 (OMIM) Arthrogryoposis multiplex (in some patients) 1 / 7739
53
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
54
 (OMIM) Short ribs with cupped ends 1 / 7739
55
 (OMIM) Exuberant cartilage formation in the trachea and bronchi 1 / 7739
56
 (OMIM) Scoliosis, severe 3 / 7739
57
 (OMIM) Supra-acetabular notches 2 / 7739
58
 (OMIM) Severe kyphosis 2 / 7739
59
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
60
 (OMIM) Vertebral bodies broader than interpedicular distance 2 / 7739
61
 (MedDRA:10072883) Brachydactyly 153 / 7739
62
 (OMIM) Delayed carpal age 1 / 7739
63
 (OMIM) A thin seal of bone at the chondroosseous junction 1 / 7739
64
 (OMIM) Prominent joints 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008).
Clinical Description OMIM Maroteaux et al. (1966) described a chondrodystrophy that at birth is likely to be called achondroplasia ('hyperplastic type') because of the short limbs and later in life Morquio syndrome because of the relatively short spine and severe scoliosis. ...
Molecular genetics OMIM In 2 sporadic cases of metatropic dysplasia, Krakow et al. (2009) identified heterozygosity for de novo missense mutations in the TRPV4 gene (605427.0006-605427.0007).

Dai et al. (2010) analyzed the TRPV4 gene in 22 MD probands and ...