Juberg-Hayward syndrome

Definition:

Juberg-Hayward syndrome (JHS) 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. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation.

References:

[1]. Peter Hedera, et al. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. Am J Med Genet A. 2003 Oct 15;122A(3):257-60. [Content Brief]

[2]. Piranit Nik Kantaputra, et al. Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. Eur J Orthod. 2021 Jan 29;43(1):45-50. [Content Brief]

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