Summary
Juberg-Hayward syndrome was described in not more than 10 patients in the literature. These patients have in common short stature, cleft lips and palate, microcephaly, hypoplasia and distal placement of the thumbs, which are stiff or absent, and elbow deformities limiting extension sometimes due to a luxation of the radial head. One patient was found to have growth hormone deficiency, and his sella turcica was normal at X-ray. On the contrary, absence of pituitary fossa was reported in one female but no evident endocrine dysfunction to account for short stature. Besides occasional mental retardation, other anomalies were described in 3 patients: hypertelorism, bowed and upward slanting eyebrows, minor vertebral and rib anomalies, anterior anal displacement, ptosis and horseshoe kidneys. Transmission is likely to be recessive but autosomal dominant inheritance cannot be totally excluded. Therefore genetic counseling of the parents of an affected child and of affected patients must be careful. *Author : Orphanet (April 2003)*.
