Donnai-Barrow 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 Donnai-Barrow syndrome is a very rare congenital disease with numerous malformations such as facial dysmorphia , ocular abnormalities, hearing loss , agenesis of the corpus callosum , and developmental disabilities .

Synonyms are: DBS / FOAR syndrome; Facio-oculo-acoustico-renal syndrome; FOAR syndrome; Holmes-Schepens Syndrome; Eye and face abnormalities syndrome with telekanthus and hearing loss; Diaphragmatic hernia-exomphalos-hypertelorism syndrome; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome

The name refers to the authors of a description from 1993 by the British human geneticists Dian Donnai and Margaret Barrow, or to a report from 1972 by LB Holmes and CL Schepens.

According to a report by LS Regenbogen and GJ Coscas, the term "Rainbow Donnai Syndrome" also exists.

The first description probably comes from JL Murdoch, MC Mengel from 1971.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 50 people have been reported. Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in LRP2 - gene on chromosome 2 gene locus q31.1 based coding for the receptor protein megalin encoded (low-density lipoprotein receptor-related protein 2).

Clinical manifestations

Clinical criteria are:

Differential diagnosis

The following are to be distinguished:

Prospect of healing

Intrauterine and perinatal mortality is high .

literature

  • A. Dachy, F. Paquot, G. Debray, C. Bovy, EI Christensen, L. Collard, F. Jouret: In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. In: Pediatric nephrology. Vol. 30, No. 6, June 2015, pp. 1027-1031, doi: 10.1007 / s00467-014-3037-7 , PMID 25822460 .
  • O. Khalifa, Z. Al-Sahlawi, F. Imtiaz, K. Ramzan, R. Allam, A. Al-Mostafa, M. Abdel-Fattah, G. Abuharb, M. Nester, A. Verloes, H. Al- Zaidan: Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. In: European journal of medical genetics. Vol. 58, No. 5, May 2015, pp. 293-299, doi: 10.1016 / j.ejmg.2014.12.008 , PMID 25682901 (review).
  • IA Bruce, SJ Broomfield, L. Henderson, KM Green, RT Ramsden: Cochlear implantation in Donnai-Barrow syndrome. In: Cochlear implants international. Vol. 12, No. 1, February 2011, pp. 60-63, doi: 10.1179 / 146701010X486534 , PMID 21756462 .
  • BR Pober, M. Longoni, KM Noonan: A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB / FOAR) syndrome: clinical features and differential diagnosis. In: Birth defects research. Part A, Clinical and Molecular Teratology. Vol. 85, No. 1, January 2009, pp. 76-81, doi: 10.1002 / bdra.20534 , PMID 19089858 , PMC 2882234 (free full text) (review).

Individual evidence

  1. ↑ a b c d e Donnai-Barrow syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ D. Donnai, M. Barrow: Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? In: American journal of medical genetics. Vol. 47, No. 5, October 1993, pp. 679-682, doi: 10.1002 / ajmg.1320470518 , PMID 8266995 .
  3. ↑ LB Holmes, CL Schepens: Syndrome of ocular and facial anomalies, telecanthus, and deafness. In: The Journal of pediatrics. Vol. 81, No. 3, September 1972, pp. 552-555, PMID 4626128 .
  4. ↑ Rainbow, LS, Coscas, GJ Oculo-auditory Syndromes. New York: Masson Publ. 1985. Pp. 104-105.
  5. ↑ JL Murdoch, MC Mengel: An unusual eye-ear syndrome with renal abnormality. In: Birth defects original article series. Vol. 07, No. 4, March 1971, p. 136, PMID 5006207 .
  6. ^ Donnai-Barrow syndrome.  In: Online Mendelian Inheritance in Man . (English)

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