Lethal Larsen-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr: 2371
OMIM Id: 245650
ICD-10: Q74.8
UMLs: C1855535
MeSH: C537872
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
2
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
3
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
4
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0012095) Multiple joint dislocation 24 / 7739
8
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
9
 (HPO:0008178) Abnormal cartilage matrix 1 / 7739
10
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
11
 (HPO:0003027) Mesomelia Frequent [Orphanet] 58 / 7739
12
 (HPO:0010490) Abnormality of the palmar creases 1 / 7739
13
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
14
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
15
 (HPO:0001850) Abnormality of the tarsal bones Frequent [Orphanet] 40 / 7739
16
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
17
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
18
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
19
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
20
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0010444) Pulmonary insufficiency 11 / 7739
23
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
24
 (HPO:0001601) Laryngomalacia 61 / 7739
25
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
26
 (HPO:0002779) Tracheomalacia 26 / 7739
27
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
28
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
29
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
30
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
31
 (OMIM) Collagen fiber dysmaturity 1 / 7739
32
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
33
 (HPO:0003811) Neonatal death 44 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Abnormal dermal collagen bundles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: