Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
LRS; Autosomal dominant Larsen syndrome
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
There are several bone disorders that are caused by mutations in the FLNB gene. Some are considered mild (spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe (atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia).
- Joint dislocation (especially of the hips, knees, and elbows)
- Hypermobile joints
- Characteristic face such as flat, rectangular face, depressed nasal bridge, prominent forehead, and widely spaced eyes (hypertelorism)
- Long fingers with broad ends (spatula-like) especially of the thumbs, and short nails
- Short arms
- Curved spine (
scoliosisand kyphosis) that may compress the spinal cord and lead to weakness of the arms and/or legs, and other problems Short stature
- Breathing problems in infancy (due to soft cartilage in the airway)
- Heart (cardiovascular) anomalies
- Small extra bones in the wrists and ankles that may be seen in the
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.