LRSL
MCID: LRS002
MIFTS: 30
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Larsen-Like Syndrome (LRSL)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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MalaCards integrated aliases for Larsen-Like Syndrome:
Characteristics:Inheritance:
Isolated cases 57
Prevelance:
Larsen-Like Osseous Dysplasia-Short Stature Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Larsen-Like Osseous Dysplasia-Short Stature Syndrome:
Neonatal 58
Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases Respiratory diseases Smell/Taste diseases Mental diseases Ear diseases
ICD10:
32
Orphanet: 58
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Orphanet: 58 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. MalaCards based summary: Larsen-Like Syndrome, also known as larsen-like osseous dysplasia-short stature syndrome, is related to larsen-like syndrome b3gat3 type and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen-Like Syndrome is LRSL (Larsen-Like Syndrome). Affiliated tissues include bone, tongue and heart, and related phenotypes are scoliosis and skeletal dysplasia GARD: 19 A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.
More information from OMIM:
608545
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Diseases in the Larsen Syndrome family:
Diseases related to Larsen-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of the top 20 diseases related to Larsen-Like Syndrome:![]() |
Human phenotypes related to Larsen-Like Syndrome:58 30 (show all 46)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:608545 (Updated 08-Dec-2022) |
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Genetic tests related to Larsen-Like Syndrome:
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Organs/tissues related to Larsen-Like Syndrome:
MalaCards :
Bone,
Tongue,
Heart,
Brain
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Articles related to Larsen-Like Syndrome:(show all 13)
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Search
GEO
for disease gene expression data for Larsen-Like Syndrome.
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