Distinct malformation with hamartoma in the hypothalamus tract, hypopituitarism, imperforate anus and postaxial polydactyly. Some patients also exhibit laryngeal clefts, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short fourth metacarpals, congenital heart defect, and growth retardation. Death usually occurs within the first weeks of life. According to some writers this is a sporadic condition; according to others it is an autosomal dominant trait. Maternal insecticide and pesticide exposure were reported in some instances. The condition is extremely rare.
Judith G. Hall and associates in 1980 defined the disease picture based on the observation of 6 children.
- P. M. Marcuse et al:
Hamartoma of the hypothalamus: Report of two cases with associated developmental defects.
Journal of Pediatrics, St. Louis, 1953, 43:301-308.
- J. G. Hall, P. D. Pallister, S. K. Clarren, John Bruce Beckwith, F. W. Wiglesworth, F. C. Fraser, S. Cho, P. J. Benke, S. D. Reed:
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly – a new syndrome? Part I. Clinical, causal, and pathogenic considerations.
American Journal of Medical Genetics, New York, 1980, 7: 47-74.
- S. K. Clarren et al:
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? II. Neuropathological considerations.
American Journal of Medical Genetics, New York, 1980, 7:75-83.