Crouzon's syndrome

Classification according to ICD-10
Q75.1	Crouzon's syndrome
ICD-10 online (WHO version 2019)

Baby with Crouzon Syndrome

The Crouzon syndrome ( Crohn Crouzon ), synonym: dysostosis Craniofacial Crouzon , describes a genetic disorder that premature ossification of the cranial sutures ( craniosynostosis ) in children triggers. The head then grows in the direction of the remaining open skull sutures, which can lead to a deformity of the skull. Laterally sloping lid axes are also typical. The autosomal dominant inheritance of Crouzon's disease is described in one in 25,000 births and can be improved by several operations. The mental development of the affected children is usually normal. The disease is named after the person who first described it, the French doctor Louis Edouard Octave Crouzon .

root cause

The Crouzon syndrome is caused by an autosomal - dominant change ( mutation ) in the long arm of chromosome 10 (10q26) for the so-called in a gene, fibroblast growth factor causes encoding receptor 2 (FGFR2).

Symptoms of illness

The Crouzon syndrome is clinically characterized

• Skull deformities, tower skull
• Protruding cranial sutures
• Exophthalmos (protrusion of the eyeballs)
• Hypertelorism (increased eye relief), prominent forehead
• Strabismus divergent (strabismus)
• maxillary retrognathy (maxillary hypoplasia)
• protruding lower lip

out.

Associated are:

• Humero-radial synostosis (10–20%)
• Subluxation in the elbow joint

Diagnosis

The mentioned clinical signs together with the conspicuous shape of the skull and palpable sutures do not usually require any imaging diagnostics. The x-ray shows increased digitatae impressions as well as an abnormally steep position and shortening of the skull base.

Differential diagnostics

There are forms without familial accumulation as well as without a mandibular prognathy , which some authors have identified as pseudo-Crouzon syndrome .

literature

• Friedrich Carl Sitzmann (ed.): Pediatrics (= dual series. ). 3rd, revised and expanded edition. Georg Thieme, Stuttgart 2007, ISBN 978-3-13-125333-0 .
• B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. Volume 2, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .

Individual evidence

1. ↑ whonamedit
2. ↑ Crouzon's syndrome.  In: Online Mendelian Inheritance in Man . (English).
3. ↑ W. Schuster, D. Färber (Ed.): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 .

Commons : Crouzon syndrome  - collection of images, videos and audio files

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 !