Lethal congenital contracture syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: LCCS
LCCS1
Herva disease
multiple contracture syndrome, finnish type
Number of Symptoms 33
OrphanetNr: 1486
OMIM Id: 253310
ICD-10: Q68.8
UMLs: C1854664
MeSH: C537194
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Lethal congenital contracture syndrome
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000465) Webbed neck Frequent [Orphanet] 81 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
7
 (HPO:0007277) Paucity of anterior horn motor neurons 2 / 7739
8
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
9
 (HPO:0000765) Abnormality of the thorax 64 / 7739
10
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
11
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
12
 (HPO:0004571) Widening of cervical spinal canal 2 / 7739
13
 (HPO:0003100) Slender long bone Frequent [Orphanet] 45 / 7739
14
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
15
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
16
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
17
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
18
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
19
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
20
 (HPO:0001560) Abnormality of the amniotic fluid 7 / 7739
21
 (HPO:0009775) Amniotic constriction ring Frequent [Orphanet] 21 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0000969) Edema 117 / 7739
24
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
25
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
26
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
27
 (HPO:0009004) Hypoplasia of the musculature 7 / 7739
28
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
29
 (HPO:0003811) Neonatal death 44 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (OMIM) Generalized thinning of tubular bones 1 / 7739
32
 (OMIM) Thin fishbone-like ribs 1 / 7739
33
 (OMIM) Marked fetal hydrops 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive lethal congenital contractural syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108110), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral ...
Clinical Description OMIM In Finland, Herva et al. (1985) observed 16 cases of a lethal syndrome with multiple congenital contractures resembling in many ways the Pena-Shokeir I syndrome (208150) but differing from it in failure of survival postnatally and by the ...
Molecular genetics OMIM Nousiainen et al. (2008) further restricted the critical chromosome region on 9q34 for the LCCS1 locus in Finnish families. Through systematic sequence analyses of candidate genes in the region, they found potential mutations in the GLE1 gene (603371), ...
Population genetics OMIM In a study of all cases of lethal arthrogryposis diagnosed in Finland between 1987 and 2002, Pakkasjarvi et al. (2006) classified 39 of the total 115 cases as LCCS, characterized by total immobility of the fetus at all ...