Ablepharon Macrostomy 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 ablepharon macrostomia syndrome (AMS) is an innate, very rare, severely disfiguring syndrome with lack of eyelids, eyebrows, eyelashes and malformations of ears, mouth and genitals.

The first description comes from the British doctors Gillian McCarthy and Carolyn West from 1977.

distribution

The frequency is given as less than 1 in 1,000,000, so far only 15 patients have been described. Inheritance is most likely to be autosomal dominant .

root cause

The etiology is not yet clear.

Clinical manifestations

Clinical criteria are:

  • Absence of eyelids, eyelashes, eyebrows
  • Strabismus
  • Deep dysplastic auricles
  • Abnormally shaped nostrils, flat nasal bridge
  • Macrostomy
  • Small, underdeveloped teeth
  • Dry, rough skin with lichen formation (lichenification)
  • Membranous syndactyla , inhibition of extension of the fingers
  • Underdevelopment of the nipples
  • Intersex genitals
  • missing zygomatic arches

Differential diagnosis

The Fraser syndrome and Barber-Say syndrome with ectropion and increased hairiness, but no lack of the eyelids, are to be distinguished. The genital abnormalities are not as pronounced in Barber-Say syndrome.

therapy

Treatment consists of surgical treatment as early as possible. The eyelids, the outer ear and the mouth can be reconstructed, and the zygomatic arches can also be fabricated.

literature

  • D. Schanze, M. Harakalova, CA Stevens, F. Brancati, B. Dallapiccola, P. Farndon, VE Ferraz, DM McDonald-McGinn, EH Zackai, M. Wright, S. van Lieshout, MJ Vogel, MM van Haelst, M. Zenker: Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. In: American journal of medical genetics. Part A. Vol. 161A, No. 12, December 2013, pp. 3012-3017, ISSN  1552-4833 . doi : 10.1002 / ajmg.a.36119 . PMID 24115501 .

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. ^ GT McCarthy, CM West: Ablepheron macrostomia syndrome. In: Developmental Medicine and Child Neurology . Vol. 19, No. 5, October 1977, pp. 659-663, ISSN  0012-1622 . PMID 913905 .
  3. ↑ a b c d Ablepharon macrostomy syndrome. In: Orphanet (Rare Disease Database).
  4. ↑ L. Rohena, D. Kuehn, S. Marchegiani, JD Higginson: Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. In: American journal of medical genetics. Part A. Vol. 155A, No. 4, April 2011, pp. 850-854, ISSN  1552-4833 . doi : 10.1002 / ajmg.a.33900 . PMID 21595001 .

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