Juberg–Hayward syndrome is a rare genetic syndrome characterised by cleft lip and cleft palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, dislocation of radial head and fusion of humerus and radius. The abnormalities in the arm lead to restriction of movement in the elbow.
Presentation
These includeVerloes A, Le Merrer M, Davin J-C Briard ML, et al (1992) The orocraniodigital syndrome of Juberg and Hayward. J Med Gen 29(4):262-265 Growth retardation Microcephaly Cleft lip and palate Minor vertebral and rib anomalies Horseshoe kidneys Thumb anomalies Triphalangeal thumb Radial ray anomalies
Genetics
This syndrome is caused by mutations in the establishment of cohesion 1 homolog 2 (ESCO2) gene.Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR (2020) Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. Eur J Orthod This gene is located on the short arm of chromosome 8 (8p21.1). Mutations in this gene also cause Roberts syndrome.
Juberg–Hayward syndrome is inherited in an autosomal recessive pattern.
Diagnosis
History
This condition was first described in 1969 by Juberg and Hayward.Juberg RC, Hayward JR (1969) A new familial syndrome of oral, cranial, and digital anomalies. J Pediat 74: 755-762
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