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Multiple pterygium syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Multiple pterygium syndrome

Multiple pterygium syndrome is a condition characterized by webbing of the skin at the joints and a lack of muscle movement before birth, which can lead to joint deformities and other developmental issues.

Overview

Multiple pterygium syndrome is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia). Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). This can lead to further movement problems, such as arms and legs that cannot fully extend.

There are two forms of the syndrome, differentiated by symptom severity:

  • Multiple pterygium syndrome, Escobar type (Escobar syndrome): The milder form.
  • Lethal multiple pterygium syndrome: Fatal before or very soon after birth.

Symptoms

Escobar Type

In the Escobar type, webbing typically affects the fingers, forearms, inner thighs, and backs of the knee. Additional features may include:

  • Arthrogryposis
  • Side-to-side curvature of the spine (scoliosis)
  • Respiratory distress at birth due to underdeveloped lungs (lung hypoplasia)
  • Distinctive facial features: droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), and low-set ears
  • Undescended testes (cryptorchidism) in males

This condition does not worsen after birth, and individuals typically do not experience muscle weakness later in life.

Lethal Type

This form shares many signs with the Escobar type but is more severe. Affected fetuses may develop:

  • Buildup of excess fluid in the body (hydrops fetalis)
  • Fluid-filled sac on the back of the neck (cystic hygroma)
  • Severe arthrogryposis
  • Underdevelopment (hypoplasia) of the heart, lung, or brain
  • Twisting of the intestines (intestinal malrotation)
  • Kidney abnormalities
  • Opening in the roof of the mouth (cleft palate)
  • Unusually small head size (microcephaly)
  • Congenital diaphragmatic hernia

Causes

Most cases are caused by mutations in the CHRNG gene, which provides instructions for making the gamma (γ) protein component of the acetylcholine receptor (AChR). This receptor is critical for signaling between nerve and muscle cells. In the Escobar type, some functional γ subunit is produced, whereas in the lethal type, production is often prevented entirely. Mutations in other genes, such as RAPSN, CHRNA1, and CHRND, can also cause the condition.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not show symptoms.

Frequently Asked Questions

Prenatal ultrasound can reveal characteristic features such as joint contractures, webbing of the skin, and reduced fetal movements. If these findings are present, a detailed genetic workup—including karyotyping and targeted sequencing of genes like CHRNG, DOK7, or GLE1—can confirm the diagnosis. A fetal MRI may also be used to assess lung development and rule out other anomalies.
Escobar syndrome is typically non‑lethal; affected infants survive beyond the neonatal period and can achieve reasonable motor function with therapy. The lethal form, however, often leads to death in utero or shortly after birth due to severe hydrops fetalis, cystic hygroma, or profound respiratory failure. Management of the lethal type is primarily palliative, focusing on comfort and family counseling.
Because the condition can be inherited in an autosomal recessive or dominant pattern, genetic counselors can offer carrier testing for parents, pre‑implantation genetic diagnosis (PGD) for future pregnancies, and detailed risk assessment for recurrence. Prenatal testing via chorionic villus sampling or amniocentesis can also be discussed if the specific mutation is known.===
Early physiotherapy and passive stretching help maintain joint range of motion. In severe contractures, surgical release or tendon lengthening may be necessary. Respiratory support, such as continuous positive airway pressure (CPAP) or mechanical ventilation, is often required at birth to manage lung hypoplasia and ensure adequate oxygenation. Regular follow‑up with a pulmonologist and a pediatric orthopedist is essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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