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Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

European journal of orthodontics - 29 Jan 2021

Kantaputra Piranit Nik, Dejkhamron Prapai, Intachai Worrachet, Ngamphiw Chumpol, Kawasaki Katsushige, Ohazama Atsushi, Krisanaprakornkit Suttichai, Olsen Bjorn, Tongsima Sissades, Ketudat Cairns Jame R

Abstract excerpt

BACKGROUND: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. OBJECTIVE: To report for the first time the molecular aetiology of JHS. PATIENT AND METHODS: Clinical and...

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PMID: 32255174
DOI: 10.1093/ejo/cjaa023

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