Question: What are the symptoms of Larsen syndrome ?
Answer: What are the signs and symptoms of Larsen syndrome? The signs and symptoms of Larsen syndrome vary from person to person, but may include the following: Joint dislocation (especially of the hips, knees, and elbows) Hypermobile joints Flat, rectangular face Depressed nasal bridge Prominent forehead Widely spaced eyes (hypertelorism) 'Spatula-like' thumbs Long fingers with broad ends and short nails Short arms Cleft palate Clubfoot Curved spine Short stature Breathing problems in infancy (due to soft cartilage in the airway) Cardiovascular (heart) anomalies The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of thumb phalanx 90% Anonychia 90% Arachnodactyly 90% Brachydactyly syndrome 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Joint hypermobility 90% Malar flattening 90% Abnormality of the wrist 50% Abnormality of epiphysis morphology 7.5% Abnormality of the cardiovascular system 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Short stature 7.5% Vertebral segmentation defect 7.5% Accessory carpal bones - Aortic dilatation - Atria septal defect - Autosomal dominant inheritance - Beaking of vertebral bodies - Bipartite calcaneus - Bronchomalacia - Cervical kyphosis - Cleft upper lip - Corneal opacity - Dislocated wrist - Elbow dislocation - Flat face - Hip dislocation - Hypodontia - Hypoplastic cervical vertebrae - Intellectual disability - Intrauterine growth retardation - Joint laxity - Knee dislocation - Multiple carpal ossification centers - Pectus carinatum - Pectus excavatum - Prominent forehead - Shallow orbits - Short metacarpal - Short metatarsal - Short nail - Spatulate thumbs - Spina bifida occulta - Spinal cord compression - Spondylolysis - Talipes equinovalgus - Talipes equinovarus - Tracheal stenosis - Tracheomalacia - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Larsen syndrome inherited ?
Answer: How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.
Source: GARD