Multiple Pterygium Syndrome, Escobar Variant

Alternative Names

  • Escobar Syndrome
  • Multiple Pterygium Syndrome, Nonlethal Type
  • Pterygium Syndrome
  • Multiple Pterygium Syndrome
  • Pterygium Colli Syndrome
  • Pterygium Universale
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

265000

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q33-q34

Description

Multiple Pterygium Syndrome (MPS) is a rare congenital multiple-anomaly disorder characterized by webbing of the neck, elbows, knees, armpits, and fingers, multiple joint contractures, vertebral defects, growth retardation, several musculoskeletal abnormalities, and minor facial defects. Various cardiovascular, respiratory, gastrointestinal, and genitourinary system abnormalities may also be seen in association with these characteristic findings. The Escobar variant of MPS a non-lethal form of the condition, is an autosomal recessive form of distal arthrogryposis characterized by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck, and axillary pterygia. Other features also include furrowed tongue and enlarged corneal nerves.

It is important to differentiate this condition from the Popliteal Pterygium Syndrome (PPC) and Arthrogyposis Multiplex Congenita (AMC). This can be easily done based on the joint contractures in PPS being limited to the knee, and by the progressive nature of the Escobar Syndrome as compared to AMC.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
265000.3.1LebanonFemaleYesYes Arthrogryposis multiplex congenita; ... NM_005199.5:c.807dupHomozygousAutosomal, RecessiveHoffmann et al. 2006 Proband
265000.3.2LebanonMaleYesYes Decreased fetal movement; Arthrogrypo... NM_005199.5:c.807dupHomozygousAutosomal, RecessiveHoffmann et al. 2006 Brother of 265000.3....
265000.4.1LebanonMaleYesYes Decreased fetal movement; Arthrogrypo... NM_005199.5:c.1249G>CHomozygousAutosomal, RecessiveHoffmann et al. 2006 Proband. He also had...
265000.4.2LebanonFemaleYesYes Arthrogryposis multiplex congenita; ... NM_005199.5:c.1249G>CHomozygousAutosomal, RecessiveHoffmann et al. 2006 Sister of 265000.4.1
265000.5.1LebanonFemaleYesYes Neonatal death; Arthrogryposis multipl... NM_005199.5:c.715C>THomozygousAutosomal, RecessiveHoffmann et al. 2006 Proband
265000.5.2LebanonFemaleYesYes Decreased fetal movement; Weakness of f... NM_005199.5:c.715C>THomozygousAutosomal, RecessiveHoffmann et al. 2006 Sister of 265000.5.1
265000.2.1OmanFemaleYesYes Weakness of facial musculature; Respir... NM_005199.5:c.13C>THomozygousAutosomal, RecessiveRajab et al. 2005; Hoffmann et al. 2006 Proband
265000.2.2OmanMaleYesYes Weakness of facial musculature; Respir... NM_005199.5:c.13C>THomozygousAutosomal, RecessiveRajab et al. 2005; Hoffmann et al. 2006 Brother of 265000.2....
265000.1.1Saudi ArabiaMaleYesYes Multiple pterygia (elbows, axillae, popl... NM_005199.5:c.320T>GHomozygousAutosomal, RecessiveMorgan et al. 2006 Proband. He also had...
265000.1.2Saudi ArabiaMaleYesYes Multiple pterygia (elbows, axillae, popl... NM_005199.5:c.320T>GHomozygousAutosomal, RecessiveMorgan et al. 2006 Double first cousin ...
265000.1.3Saudi ArabiaMaleYesYes Multiple pterygia (elbows, axillae, popl... NM_005199.5:c.320T>GHomozygousAutosomal, RecessiveMorgan et al. 2006 Double first cousin ...
265000.1.4Saudi ArabiaMaleYesYes Multiple pterygia (elbows, axillae, popl... NM_005199.5:c.320T>GHomozygousAutosomal, RecessiveMorgan et al. 2006 Double first cousin ...
265000.1.5Saudi ArabiaMaleYesYes Multiple pterygia (elbows, axillae, popl... NM_005199.5:c.320T>GHomozygousAutosomal, RecessiveMorgan et al. 2006 Double first cousin ...

Other Reports

Kuwait

Naguib et al. (1987) described an Arab family in which the parents are first cousins and with five siblings having multiple pterygium syndrome. The last pregnancy which produced an affected sib was prenatally diagnosed by ultrasonography.

In 1990, Teebi and Daoud ascertained the presence of 13 cases (five males and eight females) of MPS in six sibships in four Arab families while reviewing the data of a community genetic survey at Farwania district hospital, serving a mixed Arab population of 400,000. 

A survey performed by Bastaki et al. (1992) between 1985 and 1989 reported the overall incidence of genodermatosis in Kuwait Maternity Hospital to be 0.26 per 1000 livebirths. More specifically, the incidence of multiple pterygium was 0.05 per 1000 livebirths in Kuwait during the over-mentioned period of five years.

[Bastaki L, Al-Awadi A, Naguib KK. Incidence of genodermatosis among the neonates in Kuwait Maternity Hospital: 1985 to 1989 survey report, Kuwait Medical Genetics Centre, 1992, Kuwait.]

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, one child was born with the Escobar Variant of Multiple Pterygium syndrome. 

Palestine

In 1990, Teebi and Daoud reviewed the data of a community genetic survey at Farwania district hospital in Kuwait. They described two Palestinian families with MPS. 

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