Craniodiaphyseal dysplasia

Classification according to ICD-10
M85.2	Hyperostosis of the skull
ICD-10 online (WHO version 2019)

The Kraniodiaphysäre dysplasia is a very rare congenital skeletal disorder characterized by an excessive solid hyperostosis and sclerosis of the cranial and facial bones, as well as widening of the shafts of long bones.

It was first described in 1949 by the Australian doctor John Halliday .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is probably autosomal dominant or autosomal recessive .

root cause

In the dominant form, the disease is based on mutations in the SOST gene at location 17q21.31.

Clinical manifestations

Clinical criteria are:

• nasal passages stubbornly obstructed even as an infant
• later development of complete obstruction of the nasal passages, with obstruction of the tear ducts
• Progressive bony nasal bulges on the lower jaw , hyperostosis of the facial skull with development of a leontiasis ossea
• Tooth development disorders
• Increasing narrowing of the interior of the skull and the foramina with subsequent optic atrophy , hearing loss , headache and later seizures

diagnosis

The x-ray shows massive hyperostosis and sclerosis of all cranial bones, widening of the collarbones and ribs, with the diaphyses of the long bones missing . The cortex is demarcated and not thickened.

Differential diagnosis

The Engelmann syndrome , which can be differentiated by mutation analysis of the TGFB1 gene, is to be distinguished.

Prospect of healing

The progression of the disease can be influenced with medication with calcitriol / calcitonin , a calcium-reduced diet or prednisone . The chances of success are greatest when treatment is started in early childhood.

literature

• K. Ebel, E. Willich, E. Richter (ed.): Differential diagnosis in pediatric radiology . Thieme 1995, ISBN 3-13-128101-4 .
• FA Marden, FJ Wippold: MR imaging features of craniodiaphyseal dysplasia. In: Pediatric radiology. Volume 34, No. 2, February 2004, ISSN  0301-0449 , pp. 167-170, doi: 10.1007 / s00247-003-1037-z , PMID 14530887 .

Individual evidence

1. ↑ ^{a b c d} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ^ J. Halliday: A rare case of bone dystrophy. In: The British Journal of Surgery . Volume 37, No. 145, July 1949, ISSN  0007-1323 , pp. 52-63. PMID 18135657 .
3. ↑ ^{a b c} Craniodiaphyseal dysplasia. In: Orphanet (Rare Disease Database).
4. ↑ Craniodiaphyseal dysplasia, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !