Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism, occipital capillary haemangioma, protruding ears, deviation of the nasal septum, mental retardation, aplasia of the radius, short ulna, and hands in the valgus position. Originally, three metacarpals were missing and the third finger was split. Congenital hip dislocation, dysplasia of the femoral heads and necks, and ankylosis of the knees may be associated. The aetiology is unknown.
The joint description by Herrmann, Pallister, Tiddy, and Opitz was based on two families, whose initials made up the original term: KBG.
- J. Herrmann, P. D. Palliser, J. M. Opitz:
Craniosynostosis and craniosynostosis syndrome.
Rocky Mountain Medical Journal, 1969, 66: 45-56.
- J. Herrmann, P. D. Palliser, W. Tiddy, J. M. Opitz:
The KBG syndrome - a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.
Birth defects Original Article Series, New York, 1975, XI (5): 7-18.