Lethal congenital contracture syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE A
LCCS2
Multiple contracture syndrome, Israeli-Bedouin type
Number of Symptoms 22
OrphanetNr: 137776
OMIM Id: 607598
ICD-10: Q68.8
UMLs:
MeSH:
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

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0007964) Degenerative vitreoretinopathy 2 / 7739
4
 (HPO:0011003) Severe Myopia 31 / 7739
5
 (HPO:0002304) Akinesia 18 / 7739
6
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
7
 (HPO:0001558) Decreased fetal movement 74 / 7739
8
 (HPO:0001561) Polyhydramnios 191 / 7739
9
 (HPO:0001629) Ventricular septal defect Occasional [HPO:probinson] 316 / 7739
10
 (HPO:0001644) Dilated cardiomyopathy Occasional [HPO:probinson] 141 / 7739
11
 (HPO:0000969) Edema 117 / 7739
12
 (HPO:0002093) Respiratory insufficiency 410 / 7739
13
 (HPO:0002878) Respiratory failure 57 / 7739
14
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
15
 (OMIM) Anterior horn atrophy 1 / 7739
16
 (OMIM) Spinal cord glial hyperplasia 1 / 7739
17
 (OMIM) Cystic changes in the kidney 1 / 7739
18
 (OMIM) Hemifacial palsy 1 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Normal lung histology 1 / 7739
21
 (OMIM) Distended urinary bladder 1 / 7739
22
 (OMIM) No fetal hydrops 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM LCCS is a well-defined autosomal recessive disorder originally described in Finnish families (see 253310). The diagnostic criteria of LCCS are early fetal hydrops and akinesia, the Pena-Shokeir phenotype (208150), specific neuropathology with degeneration of anterior horn neurons, and ...
Molecular genetics OMIM In an attempt to identify the specific molecular defect leading to the LCCS2 phenotype, Narkis et al. (2007) sequenced 61 of the 162 genes in the linkage interval on 12q, but found no mutations. Because a similar form ...