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

## TL;DR

A rare genetic disorder case shows varied symptoms without typical features, highlighting the need for genetic testing.

## Contribution

Reports a novel compound-heterozygous CHRNG variant case with non-typical Escobar syndrome features.

## Key findings

- Patient had CHRNG variants without pterygia, showing phenotypic variability.
- Case highlights milder Escobar syndrome presentations with normal cognition.
- Findings suggest clinicians should consider genetic testing beyond classic symptoms.

## 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, NM_005199.5: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.