Types

 LRS1: autosomal dominant Larsen syndrome (MIM.150250) (FLNB mutations)
 LRS2: autosomal recessive Larsen syndrome (MIM.150250)

Synopsis

 systemic anomalies

• adult height reduced (final adult height less than 152cm)
• intra-uterine growth retardation

 craniofacial anomalies

• flattened frontal bone
• small skull base
• shallow orbits
• flat facies
• prominent forehead
• hypertelorism
• anterior corneal lens opacities
• depressed nasal bridge
• cleft palate
• cleft lip
• hypodontia

 cardiovascular anomalies

• aortic dilatation
• atrial septal defect
• ventricular septal defect

 thoracic anomalies

• tracheal stenosis
• tracheomalacia
• bronchomalacia

 genitourinary anomalies

• cryptorchidism

 spinal anomalies

• cervical vertebrae hypoplasia
• scoliosis
• wedged vertebrae
• spondylolysis
• spina bifida occulta

 limb anomalies

• dislocation of the hip
• joint laxity
  • dislocations of the elbows
  • dislocations of the wrists
  • dislocations of the knees

• dysplastic epiphyseal centers
• cylindric fingers
• spatulate thumbs
• short metacarpals
• multiple carpal ossification centers
• talipes equinovalgus
• talipes equinovarus
• short metatarsals
• delayed coalescence of calcaneal ossification centers
• short nails

 cerebrospinal anomalies

• hear loss
• mental retardation
• spinal cord compression

See also

 Larsen-like syndrome