Crane-Heise Syndrome

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.

distribution

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 manifestations

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

diagnosis

A prenatal diagnosis of malformations of the head and spine is possible with fine ultrasound .

Differential diagnosis

To be distinguished are among others:

Prospect of healing

The prognosis is unfavorable; the children almost always die shortly after birth.

Individual evidence

↑ ^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. @1@ 2
↑ 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 .

Web links

Crane-Heise Syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Crane-Heise syndrome. In: Orphanet (Rare Disease Database).

[2] 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 .

[3] Gene Cards Human Gene Database: FGD1 Genes. In: genecards.org. March 6, 2013, accessed January 22, 2015 .

[4] Crane-Heise Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials. In: malacards.org. January 20, 2015, accessed January 22, 2015 .

[5] 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. @1@ 2

[6] 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 .