Juberg-Hayward syndrome

Juberg-Hayward syndrome is a rare genetic syndrome characterised by cleft lip/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.

Genetics

This syndrome is caused by mutations in the establishment of cohesion 1 homolog 2 (ESCO2) gene.[1] This gene is located on the short arm of chromosome 8 (8p21.1).

Mutations in this gene also cause Roberts/SC phocomelia syndrome.

Juberg-Hayward syndrome is inherited in both an autosomal recessive and autosomal dominant fashion.

Clinical features

These include[2]

  • Growth retardation
  • Microcephaly
  • Cleft lip and palate
  • Minor vertebral and rib anomalies
  • Horseshoe kidneys
  • Thumb anomalies
  • Triphalangeal thumb
  • Radial ray anomalies

History

This condition was first described in 1969 by Juberg and Hayward.[3]

References
  1. 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
  2. Verloes 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
  3. Juberg RC, Hayward JR (1969) A new familial syndrome of oral, cranial, and digital anomalies. J Pediat 74: 755-762
Classification
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