GTR Home > Conditions/Phenotypes > Lethal multiple pterygium syndrome


Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. ... A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including 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), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy. [from GHR] more

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Clinical features

  • Short finger
  • Short thorax
  • Thin ribs
  • Epicanthus
  • Depressed nasal ridge
  • Arthrogryposis multiplex congenita
  • Microcephaly
  • Intrauterine growth retardation
  • Pulmonary hypoplasia
  • Low-set, posteriorly rotated ears
  • Amyotrophy
  • Long philtrum
  • Micrognathia
  • Multiple pterygia
  • Cleft palate
  • Increased susceptibility to fractures
  • Intestinal malrotation
  • Fetal akinesia sequence
  • Generalized amyoplasia
  • Abnormal cervical curvature
  • Hypoplastic heart
  • Cryptorchidism
  • Narrow mouth
  • Hypertelorism
  • Abnormality of the nose
  • Low-set ears
  • Webbed neck
  • Cystic hygroma
  • Upslanted palpebral fissure
  • Congenital diaphragmatic hernia
  • Edema
  • Flexion contracture
  • Joint dislocation
  • Limitation of joint mobility
  • Polyhydramnios
  • Hydrops fetalis
  • Abnormal facial shape
  • Malignant hyperthermia
  • Akinesia
  • Malformation of the heart and great vessels
  • Vertebral fusion
  • Aplasia/Hypoplasia of the lungs
  • Aplasia/Hypoplasia of the cerebellum
  • Abnormal dermatoglyphics
  • Popliteal pterygium
  • Amniotic constriction ring
  • Abnormality of the upper urinary tract
  • Synostosis of joints
  • Camptodactyly of finger
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