Crane-Heise syndrome is a lethal genetic disorder first defined in 1981. Some of the features of Crane-Heise syndrome are similar to those of another genetic disorder called aminopterin syndrome sine aminopterin (or pseudoaminopterin syndrome), indicating that the two conditions may be part of a spectrum of symptoms.
Aminopterin syndrome is an established disorder resulting from the use of aminopterin as an abortifacient. Surviving infants who had been exposed to this chemical had severe developmental abnormalities, especially those of the skull. Crane-Heise is distinct from aminopterin syndrome in that the mothers of infants with Crane-Heise syndrome were not exposed to aminopterin.
There are very few documented cases of Crane-Heise syndrome, and therefore, little is known about the genetic basis of the disorder. As of 2001, no specific chromosome or gene location has been identified.
Since Crane-Heise syndrome has affected more than one sibling in a family, and has been seen in both males and females, it is most likely transmitted through autosomal recessive inheritance. This means that two copies of the abnormal gene would have to be inherited, one from each parent, in order for the disorder to occur.
Males and females are at equal risk for inheriting Crane-Heise syndrome since it is assumed to be an autosomal
Signs and symptoms
Many distinct characteristics are seen in infants with Crane-Heise syndrome. Some of these include:
- Large head with a relatively small face
- Depressed nose with nasal openings turned forward
- Underdeveloped jaw
- A narrow nose bridge with eyes close together
- Low-set ears that are turned to the back
- Short neck
- Partially fused fingers or toes
The most definitive features of Crane-Heise syndrome and aminopterin syndrome are the cranial and bone abnormalities. Infants born with these syndromes typically have absent or underdeveloped brains (anencephaly), underdeveloped shoulder blades, and absent collarbones and vertebrae.
Since the signs of Crane-Heise syndrome are nearly identical to those observed in infants with aminopterin syndrome, it is important to identify whether or not the mother was exposed to aminopterin for differential diagnosis. Some fetuses have been diagnosed with Crane-Heise syndrome in the uterus via ultrasonography, however most diagnoses are based on physical examination at the time of birth.
Treatment and management
As of 2000, no treatment has been developed. Further research to better understand the cause and genetic basis of this disorder is necessary.
Crane-Heise syndrome is a lethal disorder and infants are usually stillborn or survive only a few days after birth. Malformations of the brain and vertebrae are usually severe and cannot be corrected surgically.
Barnicoat, A. J., M. J. Seller and C. P. Bennett. "Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS)." Clinical Dysmorphology 3 (1994): 353-357.
Crane, J. P., and R. L. Heise. "New syndrome in three affected siblings." Pediatrics 68 (1981): 235-237.
"Entry 218090: Crane-Heise Syndrome." OMIM—Online Mendelian Inheritance in Man. National Center for Biotechnology Information. <http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?218090>.
Sonya Kunkle and Stacey L. Blachford