Short answer · Medically reviewed summary · Last updated: 2026-05-08
Autosomal recessive multiple pterygium syndrome, often referred to as Escobar syndrome, is classified under ICD-10 code Q87.0 (Congenital malformation syndromes predominantly associated with malformation of the face). While ICD-9 codes are largely deprecated, it was historically categorized under 759.89 (Other specified congenital anomalies). What is Autosomal recessive multiple pterygium syndrome (Escobar syndrome)? Autosomal recessive multiple pterygium syndrome is a rare genetic disorder characterized by multiple pterygia (webbing of the skin) and joint contractures (arthrogryposis).
ICD10 code of Autosomal recessive multiple pterygium syndrome / Escobar syndrome and ICD9 code
ICD-10 and ICD-9 codes for Autosomal recessive multiple pterygium syndrome / Escobar syndrome, with classification details for clinicians, coders and patients.
Autosomal recessive multiple pterygium syndrome, often referred to as Escobar syndrome, is classified under ICD-10 code Q87.0 (Congenital malformation syndromes predominantly associated with malformation of the face). While ICD-9 codes are largely deprecated, it was historically categorized under 759.89 (Other specified congenital anomalies).
What is Autosomal recessive multiple pterygium syndrome (Escobar syndrome)?
Autosomal recessive multiple pterygium syndrome is a rare genetic disorder characterized by multiple pterygia (webbing of the skin) and joint contractures (arthrogryposis). Unlike the lethal form of the condition, Escobar syndrome is generally considered a non-lethal, milder phenotypic variant. Individuals with Autosomal recessive multiple pterygium syndrome typically present with distinctive facial features, including down-slanting palpebral fissures, ptosis, and a small jaw (micrognathia).
Is Autosomal recessive multiple pterygium syndrome hereditary?
Yes, Autosomal recessive multiple pterygium syndrome is inherited in an autosomal recessive pattern. This means an affected individual must inherit two mutated copies of the causative gene—typically CHRNG—one from each parent. Because both parents are usually asymptomatic carriers, the risk of recurrence for siblings of an affected child is 25% per pregnancy.
How is Autosomal recessive multiple pterygium syndrome managed?
Clinical management for patients with Autosomal recessive multiple pterygium syndrome is multidisciplinary and focused on improving physical function and quality of life. Key components of care often include:
- Physical Therapy: Essential for managing joint contractures and improving mobility.
- Orthopedic Intervention: Surgical procedures may be required to correct severe limb contractures or scoliosis.
- Speech and Feeding Support: Necessary if micrognathia or jaw involvement affects oral function.
- Genetic Counseling: Vital for families to understand the recurrence risks associated with Escobar syndrome.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis through molecular testing.
- Connect with the 2 community members on DiseaseMaps.org who share your experience with Autosomal recessive multiple pterygium syndrome.
- Schedule regular evaluations with a team consisting of a pediatric orthopedist, neurologist, and physical therapist.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.
References
- Orphanet: Autosomal recessive multiple pterygium syndrome (ORPHA:776)
- NIH Genetic and Rare Diseases Information Center (GARD): Escobar syndrome
- OMIM (Online Mendelian Inheritance in Man): #265000 (Multiple Pterygium Syndrome, Escobar Type)
- PubMed: Clinical and genetic review of CHRNG-related conditions
