Short answer · Medically reviewed summary · Last updated: 2026-05-08
Autosomal recessive multiple pterygium syndrome, often referred to as Escobar syndrome, is a rare genetic disorder characterized by multiple pterygia (webbing) and joint contractures. Clinically, it is frequently classified as the non-lethal form of multiple pterygium syndrome to distinguish it from the more severe, lethal variants. What are the common synonyms and naming conventions for Escobar syndrome? The medical community uses several terms to describe Autosomal recessive multiple pterygium syndrome.
Autosomal recessive multiple pterygium syndrome / Escobar syndrome synonyms
Other names for Autosomal recessive multiple pterygium syndrome / Escobar syndrome: synonyms, acronyms and related terms used by doctors and patients.
Autosomal recessive multiple pterygium syndrome, often referred to as Escobar syndrome, is a rare genetic disorder characterized by multiple pterygia (webbing) and joint contractures. Clinically, it is frequently classified as the non-lethal form of multiple pterygium syndrome to distinguish it from the more severe, lethal variants.
What are the common synonyms and naming conventions for Escobar syndrome?
The medical community uses several terms to describe Autosomal recessive multiple pterygium syndrome. The most common synonym is Escobar syndrome, named after the physician who first described the non-lethal, autosomal recessive form. In older literature or specific medical databases, you may encounter the following names: Multiple pterygium syndrome, non-lethal type; Pterygium syndrome, Escobar type; and Congenital pterygium syndrome. Because this condition involves multiple joint contractures, it is also occasionally categorized under broader terms related to arthrogryposis, though this is less specific than the official diagnosis.
Why does Autosomal recessive multiple pterygium syndrome have multiple names?
The nomenclature for Autosomal recessive multiple pterygium syndrome reflects the evolution of clinical genetics. Historically, researchers grouped various pterygium syndromes together. As genetic testing advanced, clinicians reclassified these based on inheritance patterns and severity. Escobar syndrome remains the preferred clinical term because it specifically identifies the non-lethal, recessive variant, helping to distinguish it from the X-linked or lethal forms of pterygium syndrome. Standardized databases use these specific identifiers to ensure patients receive accurate information regarding their prognosis and genetic risks.
How is the condition categorized in medical databases?
To assist in your research, here is how Autosomal recessive multiple pterygium syndrome is indexed in global medical systems:
- OMIM: #265000 (Multiple Pterygium Syndrome, Escobar Type)
- Orphanet: ORPHA777 (Escobar syndrome)
- ICD-10/11: Often coded under congenital malformation syndromes involving multiple systems.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis of Escobar syndrome through molecular testing.
- Connect with the DiseaseMaps.org community to share experiences with the 2 other members currently registered with Autosomal recessive multiple pterygium syndrome.
- Request a referral to a multidisciplinary team, including orthopedic surgeons and physical therapists, to manage joint contractures associated with Escobar syndrome.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
