LCCS2
MCID: LTH008
MIFTS: 38
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Lethal Congenital Contracture Syndrome 2 (LCCS2)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 2:
Characteristics:Inheritance:
Lethal Congenital Contracture Syndrome 2:
Autosomal recessive 57
Lethal Congenital Contracture Syndrome Type 2:
Autosomal recessive 58
Prevelance:
Lethal Congenital Contracture Syndrome Type 2:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lethal Congenital Contracture Syndrome Type 2:
Antenatal,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
most affected infants die shortly after birth from respiratory failure Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Eye diseases Nephrological diseases Muscle diseases
ICD10:
32
Orphanet: 58
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UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. MalaCards based summary: Lethal Congenital Contracture Syndrome 2, also known as lccs2, is related to lethal congenital contracture syndrome 3 and distal arthrogryposis. An important gene associated with Lethal Congenital Contracture Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, spinal cord and bone, and related phenotypes are dilated cardiomyopathy and ventricular septal defect GARD: 19 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Orphanet: 58 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. OMIM®: 57 Lethal congenital contracture syndrome-2 (LCCS2) is an autosomal recessive disorder characterized by severe multiple congenital contractures with muscle wasting and atrophy. Micrognathia and other craniofacial anomalies, including cleft palate, as well as cardiac defects and enlarged urinary bladder at birth have also been reported. Hydrops fetalis and multiple pterygia are absent. Most patients have died in the neonatal period, although 2 survived to early adolescence (Landau et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of LCCS, see LCCS1 (253310). (607598) (Updated 08-Dec-2022) Disease Ontology: 11 A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 2:30 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:607598 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:25 (show all 26)
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Cochrane evidence based reviews: lethal congenital contracture syndrome 2 |
Organs/tissues related to Lethal Congenital Contracture Syndrome 2:
MalaCards :
Skeletal Muscle,
Spinal Cord,
Bone,
Lung,
Kidney
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Articles related to Lethal Congenital Contracture Syndrome 2:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 2:5
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 2.
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Cellular components related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:
Biological processes related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:
Molecular functions related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:
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