Spondylometaphyseal dysplasia, Kozlowski type

General Information (adopted from Orphanet):

Synonyms, Signs: SMD, KOZLOWSKI TYPE
SMDK
Number of Symptoms 51
OrphanetNr: 93314
OMIM Id: 184252
ICD-10: Q77.8
UMLs: C0265280
MeSH: C535797
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylometaphyseal 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:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
2
 (HPO:0000271) Abnormality of the face 108 / 7739
3
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
4
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0002515) Waddling gait 56 / 7739
7
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
8
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
9
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
10
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
11
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
12
 (HPO:0005042) Irregular, rachitic-like metaphyses 1 / 7739
13
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
14
 (HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
15
 (HPO:0003180) Flat acetabular roof 25 / 7739
16
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
17
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
18
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
19
 (HPO:0008833) Irregular acetabular roof 3 / 7739
20
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
21
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
22
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
23
 (HPO:0003311) Hypoplasia of the odontoid process Occasional [Orphanet] 34 / 7739
24
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
25
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
26
 (HPO:0001760) Abnormality of the foot 96 / 7739
27
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
28
 (HPO:0003015) Flared metaphysis 44 / 7739
29
 (HPO:0006069) Severe carpal ossification delay 1 / 7739
30
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
31
 (HPO:0002812) Coxa vara 58 / 7739
32
 (HPO:0002751) Kyphoscoliosis 131 / 7739
33
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
34
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
35
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (OMIM) Short, stubby hands 1 / 7739
38
 (OMIM) Short, stubby feet 1 / 7739
39
 (OMIM) Medially places pedicles 1 / 7739
40
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
41
 (OMIM) Adult height 130-150 cm 1 / 7739
42
 (OMIM) Mildly curved limbs (varus) 1 / 7739
43
 (OMIM) Prominent joints 4 / 7739
44
 (OMIM) Normal facies 9 / 7739
45
 (OMIM) Flaring of iliac wings 2 / 7739
46
 (OMIM) Open staircase vertebral bodies 1 / 7739
47
 (OMIM) Square, short iliac wings 1 / 7739
48
 (OMIM) Vertebral bodies broader than interpedicular distance 2 / 7739
49
 (OMIM) Sphenoid hypoplasia 1 / 7739
50
 (OMIM) Supra-acetabular notches 2 / 7739
51
 (OMIM) Flat, irregular acetabula 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles (Krakow et al., 2009).
Clinical Description OMIM Kozlowski et al. (1967) delineated this form of spondylometaphyseal dysplasia. The condition prompts medical attention because of short stature, usually between ages 1 and 4 years. Shortening of the trunk is the main factor in the short stature. ...
Molecular genetics OMIM In 6 patients with SMDK, Krakow et al. (2009) identified heterozygosity for missense mutations in the TRPV4 gene; one of the mutations, R594H (605427.0003), was recurrent in 4 patients. Like the TRPV4 mutations in brachyolmia, these mutations altered ...