Cardio-cranial syndrome Pfeiffer type

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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 Pfeiffer type cardio-cranial syndrome is a very rare congenital disease with the main features heart defects , synostosis of the sagittal suture and intellectual disability .

Synonyms are: Pfeiffer cardiocranial syndrome; Pfeiffer type cardiocranial syndrome; Craniosynostosis - congenital heart disease - mental retardation; Pfeiffer-Singer-Zschiesche syndrome; Sagittal synostosis with congenital heart disease, mental retardation and mandibular ankylosis

The name refers to the first or the authors of the first description from 1987 by the German human geneticist Rudolf Artur Pfeiffer (1931–2012) together with H. Singer and S. Zschiesche.

The disease should not be confused with Pfeiffer syndrome .

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far about ten affected people have been described. The cause is not yet known.

Clinical manifestations

Clinical criteria are:

In addition, there can be kidney or genital malformations , facial dysmorphism , microgenius , ankylosis of the lower jaw, syndactyly and joint changes.

literature

  • E. McCann, E. Sweeney, J. Sills, P. May, S. Smith: Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q. In: Clinical dysmorphology. Vol. 15, No. 2, April 2006, pp. 81-84, doi : 10.1097 / 01.mcd.0000184974.22399.c0 , PMID 16531733 .
  • L. Williamson-Kruse, LG Biesecker: Pfeiffer type cardiocranial syndrome: a third case report. In: Journal of Medical Genetics . Vol. 32, No. 11, November 1995, pp. 901-903, PMID 8592338 , PMC 1051746 (free full text) (review).

Individual evidence

  1. ↑ a b c Craniosynostosis - congenital heart disease - intellectual disability. In: Orphanet (Rare Disease Database).
  2. ^ RA Pfeiffer, H. Singer, S. Zschiesche: Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs - a "new" syndrome? In: European Journal of Pediatrics. Vol. 146, No. 1, January 1987, pp. 75-78, PMID 3582410 .

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