Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 46
Print this page  Email this page Small font sizeDefault font sizeIncrease font size

            Table of Contents  
Year : 2011  |  Volume : 17  |  Issue : 1  |  Page : 22-25

Escobar syndrome in three male patients of same family

Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India

Date of Web Publication18-Jun-2011

Correspondence Address:
Deepak S Amalnath
Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.82188

Get Permissions



We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.

Keywords: Escobar syndrome, familial, multiple pterygium syndrome

How to cite this article:
Amalnath DS, Subrahmanyam D, Sridhar S, Dutta T K. Escobar syndrome in three male patients of same family. Indian J Hum Genet 2011;17:22-5

How to cite this URL:
Amalnath DS, Subrahmanyam D, Sridhar S, Dutta T K. Escobar syndrome in three male patients of same family. Indian J Hum Genet [serial online] 2011 [cited 2016 May 13];17:22-5. Available from:

   Introduction Top

Escobar syndrome or the multiple pterygium syndrome is an autosomal recessive disorder, though other modes of inheritance have also been suggested. The central manifestation of this disorder is the presence of multiple pterygia or cutaneous contractures with normal intelligence. It was first described by Bussiere [1] in 1902 from Pondicherry. It however got its name Escobar syndrome in 1982 after Escobar [2] who along with his associates prepared an extensive report on this disease in 1978. The genetic defect of this condition has been identified as the gamma subunit of the nicotinic acetylcholinergic receptor.

Till date, there is only one more single case report from India. This is the first report of three such cases in a south Indian family from Pondicherry, two of whom we could document clinically, while the third is historical.

   Case Report Top

The proband, a 21-year-old young adult, was admitted with the complaints of fever, cough with mucopurulent expectoration, and shortness of breath. He was diagnosed as a case of severe pneumonia, and hospitalized.

On examination, he was also found to have multiple pterygium involving the neck, elbow [Figure 1], fingers [Figure 2] and popliteal area, receding chin, and severe scoliosis [Figure 3]. Radiological survey showed fusion of C3, C4, and C5 vertebrae [Figure 4]. His height was 125 cm (<3 rd percentile). His intelligence on formal bedside testing was normal.
Figure 1: Pterygium of elbows

Click here to view
Figure 2: Pterygium of the neck and scoliosis

Click here to view
Figure 3: Pterygium of the fi ngers

Click here to view
Figure 4: Fusion of C3, C4, and C5 vertebrae

Click here to view

The above patient was diagnosed as severe pneumonia with multiple pterygium syndrome. The pneumonia was treated with intravenous antibiotics. He recovered fully from the pneumonia. Before discharge from hospital, spirometry was done to assess the lung function in view of severe scoliosis. It showed severe restrictive pattern of lung disease. Karyotyping of the proband was normal.

After the diagnosis of multiple pterygium syndrome, the family history was analyzed retrospectively. The family consisted of consanguineous parents with five children [Figure 5]. The above described proband is the third child. The second male child also had contractures involving finger joints and died at two years of age due to unknown reasons. Further details of second child were not available.
Figure 5: Pedigree chart

Click here to view

From the family history of the proband, we found that his nephew (the second son of the first female sibling of above family) also was having similar features. This five-year-old male child [Figure 6],[Figure 7],[Figure 8] was found to have all the above mentioned features [Table 1] and also ptosis, epicanthic fold, long philtrum, low set ears, antimongoloid slant, and rocker bottom feet.
Table 1: Clinical features of both patients

Click here to view
Figure 6: Right ptosis, epicanthic fold, anti mongoloid slant, and receding chin

Click here to view
Figure 7: Pterygium of the fi ngers

Click here to view
Figure 8: Scoliosis

Click here to view

Plastic surgery opinion was sought for both patients. The expert opinion was that in the proband, correction is difficult, whereas in the child, correction of the defects is planned.

   Discussion Top

The clinical manifestations of the two patients we described above were consistent with Escobar syndrome. Escobar syndrome is a subtype of arthrogryposis multiplex congenita.

This condition was first described by J.A. Bussiere in 1902 in Annales d`hygiene et de medecine from Pondicherry. He described a patient with multiple pterygia with resemblance to a cobra (cobra man/l'homme cobra), possibly because of the webbing of neck and microcephaly. In 1978, Victor Escobar and his associates compiled the various clinical manifestations and the disease was termed as Escobar syndrome in 1982.

It is a very rare genetic disorder with multiple congenital anomalies as described; however, noteworthy is the preserved intelligence. Other features described in literature and not present in our patients include genital anomalies, lordosis, vertical talus, cleft lip, cleft palate, down turned angles of mouth, furrowed tongue, peculiar spoon shape tongue (lingua cochlearis), hemangiomas of forehead, cutaneous dents, pulmonary hypoplasia, cryptorchism, small penis, small clitoris, and hypoplastic/absent labia majora.

The mode of inheritance is usually autosomal recessive and rarely autosomal dominant. The pattern of inheritance in our report appears to be autosomal recessive, though X-linked cannot be ruled out since all affected were males.

The gene responsible has been localized to 2q36-q37 region according to Hoffman et al.,[3] and Morgan et al.[4] in 2006. This gene codes for the gamma subunit of the acetylcholine receptor. The acetylcholine receptor has five subunits (2 alpha, 1 beta, 1 delta, and 1 gamma/epsilon). The gamma subunit is replaced by the epsilon in later fetal or perinatal life. Loss of gamma subunit in fetal life causes reduced fetal movement which is responsible for the contractures. The formation of normal epsilon unit later prevents the development of myasthenia in adults. Thus, Escobar syndrome is an example of a devastating dysmorphology due to a transient neuromuscular end-plate disturbance, but whether all the features are due to this defect alone is debatable.

Till date, there is only one more single case report from Vellore, South India by Madhuri et al,[5] where they described a 5-year-old girl with multiple pterygia, genital anomalies, facial anomalies, but no spine deformities and translocation involving chromosomes 6 and 7, which was not seen in our patient. This is the first report of a family with three affected individuals and all being male members.

   Conclusion Top

We describe three male patients with Escobar syndrome from the same family.

There is no specific treatment for Escobar syndrome. At present, genetic counselling and in utero detection, wherever possible, remains the mainstay of treatment.

We could not confirm whether this family were in any way descendents of the first patient of Escobar syndrome described by J.A. Bussiere in 1902.

   Acknowledgements Top

We thank the patients for giving permission to publish their photographs.

   References Top

1.Bussiere JA. Developement Abnormal D'un Faisceau Musculare Acromio-Mastoidien Rudimentaire, Malformation Congenitale Rare, Observe'e A Pondicherry (Indes Orientales). Annales d'hygiene et de medecine coloniales 1902;5:686-8.  Back to cited text no. 1
2.Escobar V, Bixler D,Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child 1978;132:609-61.  Back to cited text no. 2
3.Hoffman K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, et al. Escobar sydrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma unit. Am J Med Genet 2006;79:303-12.  Back to cited text no. 3
4.Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Med Genet 2006;79:390-5.  Back to cited text no. 4
5.Madhuri V, Bose A, Danda S, Shivakumar S, Kirubakaran C, Seshadari MS. Chromosomes 6/7 translocation t (6;7) (q15;q32) presenting as multiple pterygium syndrome. Indian Paediatr 2001;38:194-7.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]

  [Table 1]

This article has been cited by
1 Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene
Ki Hyuk Sung,Sang-Heon Lee,Namshin Kim,Tae-Joon Cho
Journal of Pediatric Orthopaedics B. 2015; 24(3): 262
[Pubmed] | [DOI]


Print this article  Email this article


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (1,608 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

   Case Report
    Article Figures
    Article Tables

 Article Access Statistics
    PDF Downloaded65    
    Comments [Add]    
    Cited by others 1    

Recommend this journal