Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Larsen syndrome


Other Names for this Disease

  • Autosomal dominant Larsen syndrome
  • LRS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

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:[1]
  • 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
Last updated: 3/31/2014

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 dislocation 90%
Joint hypermobility 90%
Malar flattening 90%
Abnormality of the wrist 50%
Abnormality of the cardiovascular system 7.5%
Abnormality of the epiphyses 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 -
Autosomal dominant inheritance -
Beaking of vertebral bodies -
Bipartite calcaneus -
Bronchomalacia -
Cervical kyphosis -
Cleft palate -
Cleft upper lip -
Conductive hearing impairment -
Corneal opacity -
Cryptorchidism -
Defect in the atrial septum -
Depressed nasal bridge -
Dislocated wrist -
Elbow dislocation -
Flat face -
Frontal bossing -
Hip dislocation -
Hypertelorism -
Hypodontia -
Hypoplastic cervical vertebrae -
Intellectual disability -
Intrauterine growth retardation -
Joint laxity -
Knee dislocation -
Malar flattening -
Multiple carpal ossification centers -
Pectus carinatum -
Pectus excavatum -
Prominent forehead -
Scoliosis -
Shallow orbits -
Short metacarpal -
Short metatarsal -
Short nail -
Short stature -
Spatulate thumbs -
Spina bifida occulta -
Spinal cord compression -
Spondylolysis -
Talipes equinovalgus -
Talipes equinovarus -
Tracheal stenosis -
Tracheomalacia -
Ventricular septal defect -

Last updated: 11/3/2014

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.


References
  1. Wiedemann HR, Kunze J, Grosse FR. Clinical Syndromes. 3th ed. Italy: Mosby-Wolfe; 1997..


Other Names for this Disease
  • Autosomal dominant Larsen syndrome
  • LRS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.