Cranio-fronto-nasal dysplasia

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The cranio-fronto-nasal dysplasia is a very rare congenital disease with the main features of craniosynostosis , facial abnormalities like a fronto-nasal dysplasia , mental retardation and skeletal abnormalities.

Synonyms are: English Craniofrontonasal dysplasia; craniofrontonasal dysostosis, CFND; craniofrontonasal syndrome

The differentiation from frontonasal dysplasia was made in 1979 by the pediatrician Michael M. Cohen .

distribution

The frequency is given as less than 1 in 100,000, inheritance is X-linked dominant . It is unusual for women to be more affected than men.

root cause

The disease often lie mutations in EFNB1 - gene on the X chromosome locus q13.1 based encoding Ephrin-B1.

Clinical manifestations

Clinical criteria are:

  • in the male sex mostly only hypertelorism
  • in the female sex picture of frontonasal dysplasia with hypertelorism, flat and wide nose, indentation of the bridge of the nose, craniosynostosis with brachycephaly and a prominent forehead

In addition, there can be skeletal changes in the collarbones , big toes, thumbs, brachydactyly , clinodactyly , syndactyly , polydactyly , camptodactyly , scoliosis and hyperextensible joints.

therapy

The treatment is surgically directed against the cranial suture synostosis, later against the hypertelorism.

literature

  • BK Chauhan, JM Hoover, H. Scanga, A. Medsinge, GL Arnold, KK Nischal: Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. In: Plastic and reconstructive surgery. Global open. Vol. 3, No. 6, June 2015, p. E427, doi: 10.1097 / GOX.0000000000000369 , PMID 26180728 , PMC 4494497 (free full text).
  • EM Wolfswinkel, WM Weathers, B. Correa, EP Buchanan, LH Hollier: Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment. In: The Journal of craniofacial surgery. Vol. 24, No. 4, July 2013, pp. 1303-1306, doi: 10.1097 / SCS.0b013e3182942b5c , PMID 23851793 .

Individual evidence

  1. ↑ a b c d Dysplasia, cranio-fronto-nasal. In: Orphanet (Rare Disease Database).
  2. ↑ MM Cohen, Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. In: Birth defects original article series. Vol. 15, No. 5B, 1979, pp. 13-63, PMID 393319 (Review).
  3. ↑ Craniofrontonasal dysplasia.  In: Online Mendelian Inheritance in Man . (English)

Web links