Pfeiffer syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Pfeiffer syndrome is a rare, autosomal - dominant inherited disease . Together with Apert syndrome , Crouzon syndrome , Carpenter syndrome and Saethre-Chotzen syndrome, it belongs to the craniofacial malformations .

Synonyms are: acrocephalosyndactyly syndrome, type V; ACS 5; Noack syndrome

The disease is not to be confused with the Pfeiffer type cardio-cranial syndrome .

It was first described in 1964 by the German human geneticist Rudolf Artur Pfeiffer (1931–2012).

M. Noack published a description as early as 1959 , albeit as "Apert Syndrome".

frequency

About one in 100,000 people is affected.

root cause

The syndrome is caused by mutations in the genes FGFR-1 and FGFR-2 ( fibroblast growth factor receptor 1 and 2).

Main features of Pfeiffer syndrome

  • Short skull
  • Flat back of the head
  • Pronounced forehead
  • Large eye relief
  • Underdeveloped midface
  • Flat bridge of the nose
  • Low ears
  • Broad, outward-pointing phalanges of thumb and big toe
  • Sometimes the index and middle fingers and the 2nd to 4th toes have grown together
  • Middle links of the fingers are shortened
  • Triangular shape of the basal phalanx of the thumb and big toe (X-ray)

Types

There are three types. There may be clinical transitions between the types.

Type 1 is the "classic" Pfeiffer syndrome. Affected individuals are of normal intelligence and have mild brachycephaly, midface hypoplasia, and finger and toe abnormalities. The prognosis is generally good.

Type 2 describes patients with a trefoil skull, a severe form of proptosis and anomalies in the fingers and toes, with ankylosis or synostosis of the elbows. People have delayed development and neurological complications.

Type 3 is exactly like type 2, except that those affected do not have a cloverleaf skull.

Diagnosis

Pfeiffer syndrome can be recognized prenatally by ultrasonographic evidence of craniosynostosis , hypertelorism with proptosis (protrusion of the eyeball) and broad thumbs. Molecular analysis can also be used to determine if there is a risk of recurrence and the causal mutation is known. This analysis is important for confirming the diagnosis.

treatment

Treatment to correct the face and skull is now possible in interdisciplinary specialist centers with the participation of the specialist disciplines oral and maxillofacial surgery, neurosurgery and plastic surgery.

literature

  • A. Vogels, JP Fryns: Pfeiffer syndrome. In: Orphanet J Rare Dis. 2006 Jun 1; 1, p. 19. Review. PMID 16740155 , PMC 1482682 (free full text)

Individual evidence

  1. ↑ 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. ↑ RA PFEIFFER: Dominant hereditary Acrocephalosyndactyly. In: Journal of Pediatrics. Vol. 90, September 1964, pp. 301-320, PMID 14316612 .
  3. ↑ M. NOACK: A contribution to the clinical picture of acrocephalosyndactyly (Apert). In: Archives for Pediatrics. Vol. 160, 1959, pp. 168-171, PMID 14427428 .
  4. ↑ PFEIFFER SYNDROME.  In: Online Mendelian Inheritance in Man . (English)

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