Larsen-like osseous dysplasia - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: LRSL
Number of Symptoms 62
OrphanetNr: 2370
OMIM Id: 608545
ICD-10: Q74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with multiple joint dislocations
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0012368) Flat face 106 / 7739
5
 (HPO:0000248) Brachycephaly 222 / 7739
6
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
7
 (HPO:0002007) Frontal bossing 366 / 7739
8
 (HPO:0000260) Wide anterior fontanel 55 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0011220) Prominent forehead 137 / 7739
11
 (HPO:0000272) Malar flattening 277 / 7739
12
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
13
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
14
 (HPO:0000689) Dental malocclusion 114 / 7739
15
 (HPO:0005285) Absent nasal bridge 2 / 7739
16
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
17
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
18
 (HPO:0000369) Low-set ears 372 / 7739
19
 (HPO:0000403) Recurrent otitis media 61 / 7739
20
 (HPO:0000405) Conductive hearing impairment 164 / 7739
21
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0001762) Talipes equinovarus 309 / 7739
24
 (HPO:0001373) Joint dislocation 59 / 7739
25
 (HPO:0009279) Radial deviation of the 4th finger 2 / 7739
26
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
27
 (HPO:0001382) Joint hypermobility 231 / 7739
28
 (HPO:0003179) Protrusio acetabuli 37 / 7739
29
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
32
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
33
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
34
 (HPO:0002751) Kyphoscoliosis 131 / 7739
35
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
36
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
37
 (HPO:0012095) Multiple joint dislocation 24 / 7739
38
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
39
 (HPO:0003834) Shoulder dislocation 28 / 7739
40
 (HPO:0001388) Joint laxity 117 / 7739
41
 (HPO:0008127) Bipartite calcaneus 4 / 7739
42
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
43
 (HPO:0002999) Patellar dislocation 46 / 7739
44
 (HPO:0005692) Joint hyperflexibility 20 / 7739
45
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
46
 (HPO:0002827) Hip dislocation 94 / 7739
47
 (HPO:0003994) Dislocated wrist 24 / 7739
48
 (HPO:0003042) Elbow dislocation 89 / 7739
49
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
50
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
51
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
52
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
53
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
54
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
55
 (HPO:0010547) Muscle flaccidity 466 / 7739
56
 (HPO:0001324) Muscle weakness 859 / 7739
57
 (HPO:0001252) Muscular hypotonia 990 / 7739
58
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
59
 (HPO:0003745) Sporadic 131 / 7739
60
 (MedDRA:10058668) Clinodactyly 91 / 7739
61
 (OMIM) Abnormal karyotype in 3 patients involving distal 6p 1 / 7739
62
 (OMIM) Cylindrical fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: