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At a glance

Congenital dysmorphic syndrome associated with characteristic anomalies of face, hands, and feet, and multiple congenital dislocations. Generalized skeletal malformation is pathognomonic of this medical condition. Other important features include scoliosis, airway dislocation, cardiac abnormalities, and respiratory difficulties in individual severely affected. Magnetic resonance imaging scan is essential preoperatively to evaluate the severity of the cervical kyphosis and the potential presence of cervical spinal cord compression.

Synonym

Multiple Congenital Dislocation Syndrome.

History

It was first described by et al, in 1950 in six patients presenting with spontaneous dislocation of large articulations and face anomalies. Although there are two different Larsen’s Syndrome entities described (see Rotter-Erb Syndrome below), they are often considered the same conditions.

Classification

  • Larsen Syndrome, Autosomal Dominant: Characterized by short stature, flat facies, prominent forehead, hypertelorism, cataracts cleft lip/palate, congenital heart defects (eg, aortic dilatation, atrial septal defect and ventricular septal defect), respiratory abnormalities (eg, tracheal stenosis and malacia, bronchomalacia), and potentially severe cervical spine anomalies leading to spinal cord compression.

  • Larsen Syndrome, Autosomal Recessive: Characterized by multiple congenital dislocations, craniofacial abnormalities (eg, prominent forehead, depressed nasal bridge, hypertelorism), and clubfeet. Other clinical features include cleft palate, hydrocephalus, and atlantoaxial joint and cervical spine abnormalities.

  • Larsen-Like Syndrome (LRSL): Very rare disorder characterized by facial dysmorphism, multiple joint dislocations suggesting the presence of a Larsen Syndrome but presenting as a partial trisomy 1q and partial monosomy 6p.

  • Larsen-Like Lethal Syndrome: Characterized by multiple joint dislocations and neonatal death as a result of pulmonary insufficiency laryngomalacia, tracheomalacia, and pulmonary hypoplasia.

Larsen Syndrome: Joint hyperlaxity with multiple congenital dislocations in an infant with Larsen Syndrome.

Incidence

Approximately 1:100,000 live births; both sexes affected equally. However, in La Réunion Island in the Indian Ocean the incidence is 1:1,500 all births.

Genetic inheritance

The syndrome occurs sporadically. Most often it is inherited as an autosomal dominant trait, although an autosomal recessive transmission has also been described. The responsible gene maps to 3p21.1-p14.1.

Pathophysiology

The exact mechanism is unknown, but it most likely is the result of an error in collagen synthesis.

Diagnosis

Usually made by the typical clinical features of association of musculoskeletal abnormalities with a typical flat facies and the presence of a double ossification center in the calcaneum (see “Clinical aspects”).

Clinical aspects

Differentiation between the recessive and the dominant form can be difficult because both show a wide clinical variability; however, the recessive form is generally more severe. The typical features include anomalies of the face (flat profiled face with frontal bossing and depressed nasal bridge, hypertelorism cleft ...

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