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

Jun Kido; Hiroe Ueno; Yohei Misumi; Keishin Sugawara; Suzuran Saito; Eriko Koshimizu; Naomichi Matsumoto; Mitsuharu Ueda; Kimitoshi Nakamura

PMC · DOI:10.1038/s41439-026-00340-8·March 14, 2026

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

Jun Kido, Hiroe Ueno, Yohei Misumi, Keishin Sugawara, Suzuran Saito, Eriko Koshimizu, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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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.

Findings

01

Patient had CHRNG variants without pterygia, showing phenotypic variability.

02

Case highlights milder Escobar syndrome presentations with normal cognition.

03

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.

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Genes8

CHRNG RAPSN MYH3 CHRNB1 PSEN1 CHRNA1 IGF1 CHRND

Proteins8

Species2

Homo sapiens(human · species)Mus musculus(house mouse · species)

Chemicals2

Nicotinic AChRs acetylcholine

Diseases52

Escobar syndrome muscle intellectual disability congenital diaphragmatic muscle weakness asphyxia hypertelorism ptosis arachnodactyly akinesia digits Non tapered finger micrognathia maxillary prognathism syringomyelia intraspinal abnormalities arthrogryposis ulnar deviation contractures pes planus varus tendency HP Neonatal jaundice facial dysmorphism neonatal respiratory distress in-toeing cryptorchidism high-arched palate low-set ears scoliosis intrauterine death fetal hydrops multiple pterygia restricted intrauterine movement hypertrichosis webbing arthrogryposis multiplex adducted thumbs genetic defect camptodactyly Short stature Rare and Undiagnosed Diseases craniofacial anomalies low-frequency hearing loss congenital disorder neuromuscular disease CHRNG-related disease craniofacial and limb involvement tethered cord syndrome kyphosis cutaneous syndactyly pulmonary hypoplasia

Mutations48

c.255T>Ap.Gln81*c.1408C>Tc.807dupp.Val154Serfs*24p.Gly19Argp.Arg68*c.13C>Tc.136C>Tc.202C>Tc.639_643delp.Arg470*c.320T>Gp.Gln5*p.Trp85*1G>Ac.117dup428C>Gp.Leu100_Arg101insTrpValLeup.Arg86Cysp.Glu417Glnc.1180C>Gc.292_300dupc.715C>Tc.241C>Tc.459dupc.518dup2T>Cc.55G>A1267delGp.Pro395Alap.Arg46*p.Trp161*c.1249G>Cc.482G>Ac.1010_1011delc.753_754delc.397delc.1132_1136dupc.1292_1311delc.196G>Cc.388delc.1366_1367delp.Tyr173*c.401_402delp.Leu265Serp.Val253Alafs44c.794T>G

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Taxonomy

TopicsNeurogenetic and Muscular Disorders Research · Connective tissue disorders research · Skin and Cellular Biology Research