Cerebro-Kosto-Mandibular Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The cerebro-costo-mandibular syndrome (CCMS) is a very rare congenital disease with the main features of hypoplasia of the mandible , median cleft palate , numerous defects of the ribs in the back area .

Synonyms are: Smith-Theiler-Schachenmann syndrome; English Cerebrocostomandibular Syndrome

The name refers to the first authors of the first description from 1966 by David W. Smith , the Swiss anatomist Karl Theiler and the pediatrician Gertrud Schachenmann.

distribution

The frequency is given as less than 1 in 1,000,000, so far more than 80 people have been reported. Inheritance is - at least partially - autosomal dominant .

root cause

The disease are mutations in SNRPB - gene on chromosome 10 locus p13 based encoding the small nuclear ribonucleoprotein-associated proteins B and B '.

Clinical manifestations

Clinical criteria are:

The extent of the changes varies widely.

The central nervous system can also be involved.

There is often a delay in growth in the womb

diagnosis

The diagnosis is based on clinical and radiological findings.

Differential diagnosis

The following are to be distinguished:

therapy

The treatment focuses on respiratory and drinking obstruction.

forecast

The prognosis depends on the severity. Around a quarter of those affected die in the first few months of life.

literature

  • A. Matić, G. Velisavljev-Filipović, J. Lovrenski, D. Gajdobranski: A case of severe type of cerebro-costo-mandibular syndrome. In: Srpski arhiv za celokupno lekarstvo. Volume 144, Numbers 7-8, 2016 Jul-Aug, pp. 431-435, PMID 29652453 .

S. Lale, H. Ardinger, N. Mardis, S. Changho, T. Lancaster, V. Singh: Total absence of ribs in a newborn with cerebrocostomandibular syndrome. In: Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Pediatric Pathology Society. Volume 14, number 2, 2011 Mar-Apr, pp. 134-137, doi : 10.2350 / 09-11-0745-CR.1 , PMID 20658933 .

  • M. Cohnen, O. Reksten, H. Kemperdick: The cerebro-costo-mandibular syndrome. In: RöFo: Advances in the field of X-rays and nuclear medicine. Volume 171, Number 2, August 1999, pp. 160-162, doi : 10.1055 / s-1999-236 , PMID 10506892 (review).
  • S. Sahyoun, F. Bitar, S. Gebran, JA Ghosn, DA Khalil, J. Haddad: Le syndrome cérébro-costomandibulaire. In: Archives de pédiatrie: organe officiel de la Societe francaise de pediatrie. Volume 5, Number 11, November 1998, pp. 1288-1289, PMID 9853072 .

Individual evidence

  1. ↑ a b 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. ↑ a b c d e f Cerebro-costo-mandibular syndrome. In: Orphanet (Rare Disease Database).
  3. ^ DW Smith, K. Theiler, G. Schachenmann: Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development. In: The Journal of pediatrics. Volume 69, Number 5, November 1966, pp. 799-803, PMID 5928011 .
  4. ↑ Cerebrocostomandibular syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links