What question did this study set out to answer?

This report aims to highlight the phenotypic variability associated with CHRNG mutations in Escobar syndrome.

March 15, 2026Open Access

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype–phenotype insights

Key Points

This report aims to highlight the phenotypic variability associated with CHRNG mutations in Escobar syndrome.
Reported a case of a school-age girl with compound-heterozygous CHRNG variants.
Documented clinical features including neonatal asphyxia and contractures.
Emphasized the absence of pterygia and maintained normal cognition.
The patient exhibited congenital limb contractures and low-frequency hearing loss.
Case underscores variability of CHRNG-related disease presentations.
Clinicians are alerted to recognize milder cases without pterygia.

Abstract

Abstract Escobar syndrome is a rare congenital disorder characterized by contractures, pterygia and craniofacial anomalies. Here we report a school-age girl harboring compound-heterozygous CHRNG variants, NM₀05199. 5: c. 2T>C;428C>G p. (Met1? ) ; (Pro143Arg). She presented with neonatal asphyxia, congenital limb contractures and low-frequency hearing loss but without pterygia, maintaining normal cognition. This case underscores the phenotypic variability of CHRNG -related disease and alerts clinicians to recognize milder presentations that lack pterygia and to consider targeted genetic testin.

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Cite This Study

Kido et al. (Sat,) studied this question.

synapsesocial.com/papers/69b5ff8083145bc643d1c1ac https://doi.org/https://doi.org/10.1038/s41439-026-00340-8

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