Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
11q12.3
Larsen's syndrome is a rare, inherited defect of connective tissue formation. The syndrome characteristics include flattened facies (prominent forehead, depressed nasal bridge, and wide-spaced eyes), multiple congenital dislocations and foot deformities as a result of connective tissue mal-development during gestation. Cleft palate, hydrocephalus, and abnormalities of spinal segmentation that may lead to major spinal instability and spinal cord injury were found in some cases.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 245600.1 | United Arab Emirates | Male | No | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Abnormal facial shape; Aortic root aneurysm; Pulmonary artery dilatation; Global developmental delay; Abnormality of refraction; Carious teeth; Atlantoaxial instability; Pectus carinatum; Genu valgum; Palmoplantar cutis laxa; Pes planus  | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | von Oettingen et al. 2014 | |
| 245600.2.1 | United Arab Emirates | Male | Yes | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Brachycephaly; Abnormally large globe; Downslanted palpebral fissures; Narrow mouth; Low-set ears; Microtia; Micrognathia; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | Baasanjav et al. 2011 | |
| 245600.2.2 | United Arab Emirates | Female | Yes | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Bicuspid aortic valve; Aortic root aneurysm; Ventricular septal defect; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Downslanted palpebral fissures; Microtia; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | Baasanjav et al. 2011 | Sister of 245600.2.1 |
| 245600.2.3 | United Arab Emirates | Male | Yes | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Bicuspid aortic valve; Mitral valve prolapse; Atrial septal defect; Aortic root aneurysm; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Downslanted palpebral fissures; Microtia; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | Baasanjav et al. 2011 | Brother of 245600.2.... |
| 245600.2.4 | United Arab Emirates | Female | Yes | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Bicuspid aortic valve; Mitral valve prolapse; Patent foramen ovale; Aortic root aneurysm; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | Baasanjav et al. 2011 | Sister of 245600.2.1 |
| 245600.2.5 | United Arab Emirates | Male | Yes | Yes | Joint laxity; Multiple joint dislocation... Joint laxity; Multiple joint dislocation; Short stature; Mitral valve prolapse; Patent foramen ovale; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | NM_012200.4:c.830G>A | Homozygous | Autosomal, Recessive | Baasanjav et al. 2011 | Brother of 245600.2.... |
| 245600.3 | Tunisia | Yes | Intrauterine growth retardation; Short s... Intrauterine growth retardation; Short stature; Genu recurvatum; Platyspondyly; Monkey wrench femoral neck; Talipes equinovarus; Intellectual disability | NM_012200.4:c.416= | Homozygous | Autosomal, Recessive | Ranza et al. 2017 |
Knoblauch et al. (1999) reported two sisters with Larsen syndrome. They were born to clinically unaffected parents who originate from the South of Egypt and were first cousins. Further family history was non-contributory.