Spondyloepimetaphyseal dysplasia, Missouri type

General Information (adopted from Orphanet):

Synonyms, Signs: MANDP1, INCLUDED
SEMD, MISSOURI TYPE METAPHYSEAL ANADYSPLASIA 1, INCLUDED
Spondyloepimetaphyseal dysplasia type 2
SEMD, Missouri type
SEMD type 2
Number of Symptoms 32
OrphanetNr: 93356
OMIM Id: 602111
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0002986) Radial bowing 27 / 7739
2
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
3
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
4
 (HPO:0003031) Ulnar bowing 16 / 7739
5
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
6
 (HPO:0002980) Femoral bowing 36 / 7739
7
 (HPO:0002869) Flared iliac wings 20 / 7739
8
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
9
 (HPO:0002982) Tibial bowing 36 / 7739
10
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
11
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
12
 (HPO:0008476) Irregular sclerotic endplates 3 / 7739
13
 (HPO:0008905) Rhizomelia Frequent [Orphanet] 85 / 7739
14
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
15
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
16
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
17
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
18
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
19
 (HPO:0001377) Limited elbow extension 38 / 7739
20
 (HPO:0006603) Flared, irregular rib ends 2 / 7739
21
 (HPO:0002812) Coxa vara 58 / 7739
22
 (HPO:0003021) Metaphyseal cupping 16 / 7739
23
 (HPO:0003015) Flared metaphysis 44 / 7739
24
 (HPO:0004566) Pear-shaped vertebrae 3 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (OMIM) Small flattened epiphyses (distal femora and proximal tibiae) 3 / 7739
27
 (OMIM) Rhizomelic shortening 12 / 7739
28
 (OMIM) Adult female height 152-167cm 1 / 7739
29
 (OMIM) Normal odontoid process 2 / 7739
30
 (OMIM) Adult male height 167-173cm 1 / 7739
31
 (OMIM) Mild platyspondyly 14 / 7739
32
 (OMIM) Schmorl nodule appearance (thoracolumbar vertebrae, adults) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Spondyloepimetaphyseal Dysplasia, Missouri Type

Patel et al. (1993) described a large Missouri kindred with a novel form of SEMD characterized by moderate to severe metaphyseal changes; mild epiphyseal involvement; pear-shaped vertebrae in childhood; rhizomelic shortening, ...
Molecular genetics OMIM Kennedy et al. (2005) considered MMP13 to be the best candidate among the MMP cluster on 11q for causation of Missouri SEMD because the enzyme preferentially degrades collagen type II (120140), abnormalities of which cause skeletal dysplasias that ...