|Classification according to ICD-10|
|Q87.5||Other congenital malformation syndromes with other skeletal changes|
|ICD-10 online (WHO version 2019)|
The Crane-Heise syndrome is a very rare hereditary disease with a combination of insufficient ossification of the skull , malformations of the face, changes in the vertebral bodies and missing collarbones .
The name refers to the authors of the first description from 1981 by James P. Crane and Robin L. Heise.
Few cases have been reported so far. Inheritance is autosomal - recessive . The cause is not yet known. One gene apparently associated with the disease is FGD1 . It is located on the X chromosome , gene locus p11.21.
Clinical criteria are:
- Insufficient ossification of the skullcap
- Facial malformations ( dysmorphism ) such as microgenius , cleft palate , hypertelorism and forward-pointing nostrils, auricular malformations
- Aplasia of the collarbones
- frequent aplasia of the cervical vertebrae
- Growth retardation already intrauterine
A prenatal diagnosis of malformations of the head and spine is possible with fine ultrasound .
To be distinguished are among others:
Prospect of healing
The prognosis is unfavorable; the children almost always die shortly after birth.
- ↑ a b c d Crane-Heise syndrome. In: Orphanet (Rare Disease Database).
- ↑ JP Crane, RL Heise: New syndrome in three affected siblings. In: Pediatrics. Vol. 68, No. 2, August 1981, ISSN 0031-4005 , pp. 235-237, PMID 7267231 .
- ↑ Gene Cards Human Gene Database: FGD1 Genes. In: genecards.org. March 6, 2013, accessed January 22, 2015 .
- ^ Crane-Heise Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials. In: malacards.org. January 20, 2015, accessed January 22, 2015 .
- ↑ FGD1. (No longer available online.) In: tools.autworks.hms.harvard.edu. Archived from the original on January 22, 2015 ; accessed on January 22, 2015 . Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ F. Petit, L. Devisme, A. Toutain, V. Houfflin-Debarge, A. Dieux-Coeslier, p Manouvrier-Hanu, J. Andrieux, M. Holder-Espinasse: Crane-Heise syndrome: two case reports Further . In: European Journal of Medical Genetics. Vol. 54, No. 2, 2011 Mar-Apr, ISSN 1878-0849 , pp. 169-172, doi : 10.1016 / j.ejmg.2010.11.004 , PMID 21094705 .
- Crane-Heise Syndrome. In: Online Mendelian Inheritance in Man . (English)