Larsen-like syndrome, B3GAT3 type

General Information (adopted from Orphanet):

Synonyms, Signs: LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects
Number of Symptoms 101
OrphanetNr: 284139
OMIM Id: 245600
ICD-10: Q74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with cardiac malformation as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of O-xylosylglycan synthesis
 -Rare genetic disease
Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic 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:0000308) Microretrognathia rare [HPO:skoehler] 78 / 7739
2
 (HPO:0000160) Narrow mouth 188 / 7739
3
 (HPO:0002007) Frontal bossing 366 / 7739
4
 (HPO:0000465) Webbed neck rare [HPO:skoehler] 81 / 7739
5
 (HPO:0000574) Thick eyebrow 96 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0002162) Low posterior hairline 88 / 7739
8
 (HPO:0012368) Flat face rare [HPO:skoehler] 106 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0000316) Hypertelorism 644 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000691) Microdontia 104 / 7739
13
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
14
 (HPO:0000248) Brachycephaly 222 / 7739
15
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
16
 (HPO:0001090) Large eyes 20 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
18
 (HPO:0011220) Prominent forehead 137 / 7739
19
 (HPO:0000274) Small face 18 / 7739
20
 (HPO:0000470) Short neck 345 / 7739
21
 (HPO:0000592) Blue sclerae rare [HPO:skoehler] 85 / 7739
22
 (HPO:0000565) Esotropia 58 / 7739
23
 (HPO:0001087) Congenital glaucoma 12 / 7739
24
 (HPO:0000646) Amblyopia 42 / 7739
25
 (HPO:0000540) Hypermetropia 99 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0008593) Prominent antitragus rare [HPO:skoehler] 2 / 7739
28
 (HPO:0008551) Microtia 98 / 7739
29
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
30
 (HPO:0002974) Radioulnar synostosis 52 / 7739
31
 (HPO:0009880) Broad distal phalanges of all fingers 2 / 7739
32
 (HPO:0000939) Osteoporosis 129 / 7739
33
 (HPO:0004976) Knee dislocation 6 / 7739
34
 (HPO:0003042) Elbow dislocation 89 / 7739
35
 (HPO:0002999) Patellar dislocation 46 / 7739
36
 (HPO:0010049) Short metacarpal 99 / 7739
37
 (HPO:0003179) Protrusio acetabuli 37 / 7739
38
 (HPO:0002987) Elbow flexion contracture 64 / 7739
39
 (HPO:0001852) Sandal gap rare [HPO:skoehler] 63 / 7739
40
 (HPO:0005037) Proximal radio-ulnar synostosis 6 / 7739
41
 (HPO:0012095) Multiple joint dislocation 24 / 7739
42
 (HPO:0002827) Hip dislocation 94 / 7739
43
 (HPO:0001380) Ligamentous laxity 8 / 7739
44
 (HPO:0000774) Narrow chest 167 / 7739
45
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
46
 (HPO:0000917) Superior pectus carinatum 11 / 7739
47
 (HPO:0002857) Genu valgum rare [HPO:skoehler] 144 / 7739
48
 (HPO:0001222) Spatulate thumbs 2 / 7739
49
 (HPO:0006099) Metacarpophalangeal joint hyperextensibility rare [HPO:skoehler] 1 / 7739
50
 (HPO:0001388) Joint laxity 117 / 7739
51
 (HPO:0001840) Metatarsus adductus 49 / 7739
52
 (HPO:0001763) Pes planus 176 / 7739
53
 (HPO:0003051) Enlarged metaphyses 3 / 7739
54
 (HPO:0002750) Delayed skeletal maturation rare [HPO:skoehler] 250 / 7739
55
 (HPO:0002650) Scoliosis 705 / 7739
56
 (HPO:0001373) Joint dislocation 59 / 7739
57
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
58
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
59
 (HPO:0001772) Talipes equinovalgus 7 / 7739
60
 (HPO:0001762) Talipes equinovarus 309 / 7739
61
 (HPO:0000768) Pectus carinatum rare [HPO:skoehler] 136 / 7739
62
 (HPO:0003994) Dislocated wrist 24 / 7739
63
 (HPO:0000938) Osteopenia 138 / 7739
64
 (HPO:0003834) Shoulder dislocation rare [HPO:skoehler] 28 / 7739
65
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
66
 (HPO:0000776) Congenital diaphragmatic hernia rare [HPO:skoehler] 36 / 7739
67
 (HPO:0004322) Short stature 1232 / 7739
68
 (HPO:0008067) Abnormally lax or hyperextensible skin 3 / 7739
69
 (HPO:0000974) Hyperextensible skin rare [HPO:skoehler] 59 / 7739
70
 (HPO:0000973) Cutis laxa 43 / 7739
71
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
72
 (HPO:0001655) Patent foramen ovale 31 / 7739
73
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
74
 (HPO:0001634) Mitral valve prolapse 69 / 7739
75
 (HPO:0001631) Atria septal defect 274 / 7739
76
 (HPO:0002616) Aortic root dilatation 27 / 7739
77
 (HPO:0001640) Cardiomegaly 81 / 7739
78
 (HPO:0001290) Generalized hypotonia rare [HPO:skoehler] 51 / 7739
79
 (HPO:0040160) Generalized osteoporosis rare [HPO:skoehler] 7 / 7739
80
 (OMIM) Diaphyseal incurving (in some patients) 1 / 7739
81
 (OMIM) Increased number of carpal ossification centers 1 / 7739
82
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
83
 (OMIM) Protuberant eyes 3 / 7739
84
 (OMIM) Wrist joint laxity 1 / 7739
85
 (OMIM) Dysmorphic ears 4 / 7739
86
 (OMIM) Arrested hydrocephalus (rare) 1 / 7739
87
 (OMIM) Wrist joint dislocation (in some patients) 1 / 7739
88
 (OMIM) Hyperextensibility of large joints 2 / 7739
89
 (OMIM) Osteopenia evident in childhood 1 / 7739
90
 (OMIM) Chest asymmetry, mild 1 / 7739
91
 (OMIM) Broad ends of toes 1 / 7739
92
 (OMIM) Dissociated bone age (in some patients) 1 / 7739
93
 (OMIM) Knee dislocation, bilateral 1 / 7739
94
 (OMIM) Mild dysplasia of hip joints 1 / 7739
95
 (HPO:0000238) Hydrocephalus 278 / 7739
96
 (OMIM) Interphalangeal joint laxity 1 / 7739
97
 (OMIM) Verbal delay (in some patients) 1 / 7739
98
 (OMIM) Uplift of earlobes (in some patients) 1 / 7739
99
 (OMIM) Protrusion of abdomen (in some patients) 1 / 7739
100
 (OMIM) Broad ends of fingers ('pseudoclubbing') 1 / 7739
101
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive phenotype consists of dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects (summary by Bonaventure et al., 1992).

Phenotypic similarities have been noted ...
Clinical Description OMIM Steel and Kohl (1972) described 3 sibs with shoulder, elbow, hip, and knee dislocations and clubfeet. The hands of all 3 sibs displayed shortened metacarpals and spatulate deformity of the tuft of the thumb, the so-called 'delta phalanx;' ...
Molecular genetics OMIM In a consanguineous family with multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects mapping to chromosome 11q12, Baasanjav et al. (2011) sequenced 30 functional candidate genes and identified homozygosity for a missense mutation in the ...