Autosomal dominant Larsen syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LRS
Number of Symptoms 73
OrphanetNr: 503
OMIM Id: 150250
ICD-10: Q68.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Filamin-related bone disorder
 -Rare genetic disease
Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
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:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000204) Cleft upper lip 193 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000668) Hypodontia 81 / 7739
8
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
9
 (HPO:0000272) Malar flattening 277 / 7739
10
 (HPO:0000586) Shallow orbits 23 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0000175) Cleft palate 349 / 7739
13
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
14
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
15
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
16
 (HPO:0007957) Corneal opacity 84 / 7739
17
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
20
 (HPO:0002947) Cervical kyphosis 6 / 7739
21
 (HPO:0000768) Pectus carinatum 136 / 7739
22
 (HPO:0004976) Knee dislocation 6 / 7739
23
 (HPO:0001762) Talipes equinovarus 309 / 7739
24
 (HPO:0002827) Hip dislocation 94 / 7739
25
 (HPO:0010743) Short metatarsal 56 / 7739
26
 (HPO:0001222) Spatulate thumbs 2 / 7739
27
 (HPO:0003994) Dislocated wrist 24 / 7739
28
 (HPO:0008127) Bipartite calcaneus 4 / 7739
29
 (HPO:0003298) Spina bifida occulta 67 / 7739
30
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
31
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
32
 (HPO:0001388) Joint laxity 117 / 7739
33
 (HPO:0004232) Accessory carpal bones 2 / 7739
34
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
35
 (HPO:0010049) Short metacarpal 99 / 7739
36
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
37
 (HPO:0008434) Hypoplastic cervical vertebrae 4 / 7739
38
 (HPO:0000767) Pectus excavatum 244 / 7739
39
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
40
 (HPO:0006067) Multiple carpal ossification centers 2 / 7739
41
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
42
 (HPO:0003042) Elbow dislocation 89 / 7739
43
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
44
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
45
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
46
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
47
 (HPO:0003304) Spondylolysis 11 / 7739
48
 (HPO:0001772) Talipes equinovalgus 7 / 7739
49
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
50
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
51
 (HPO:0001799) Short nail 12 / 7739
52
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
53
 (HPO:0001629) Ventricular septal defect 316 / 7739
54
 (HPO:0001724) Aortic dilatation 24 / 7739
55
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
56
 (HPO:0001631) Atria septal defect 274 / 7739
57
 (HPO:0002777) Tracheal stenosis 35 / 7739
58
 (HPO:0002780) Bronchomalacia 7 / 7739
59
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
60
 (HPO:0002779) Tracheomalacia 26 / 7739
61
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
62
 (OMIM) Supernumerary tarsal bones 1 / 7739
63
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
64
 (OMIM) Cylindric fingers 1 / 7739
65
 (OMIM) Dislocation of the hip 2 / 7739
66
 (OMIM) Malformations of the auditory ossicles 1 / 7739
67
 (OMIM) Dysplastic epiphyseal centers 1 / 7739
68
 (OMIM) Subluxation or fusion of the cervical vertebrae 1 / 7739
69
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
70
 (OMIM) Flattened frontal bone 1 / 7739
71
 (OMIM) Anterior corneal lens opacities 1 / 7739
72
 (OMIM) Small skull base 1 / 7739
73
 (HPO:0002176) Spinal cord compression 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Larsen syndrome is an osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked ...
Clinical Description OMIM Larsen et al. (1950) called attention to a syndrome of multiple congenital dislocations and characteristic facies (prominent forehead, depressed nasal bridge, wide-spaced eyes). Clubfoot, bilateral dislocation of elbows, hips and knees (most characteristically, anterior dislocation of the tibia ...
Molecular genetics OMIM In 4 individuals with sporadically occurring Larsen syndrome and 1 family with a dominantly inherited form of the condition, Krakow et al. (2004) found heterozygosity for de novo missense mutations in the FLNB gene (603381.0004; 603381.0005).

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