Koussef syndrome

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

The Koussef syndrome is a very rare congenital disease with a combination of neural tube defect at the level of the sacrum , heart defects and facial dysmorphia .

The name refers to the author of the first description from 1984 by the Bulgarian - US American physician human geneticist Boris G Kousseff.

The syndrome should not be confused with Koussef-Nichols syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far 5 affected people have been described. The inheritance is probably autosomal - recessive . Kousseff syndrome is said to be present in 1% of neural tube defects.

root cause

In most cases, the disease is based on microdeletions on chromosome 22 locus q11, similar to monosomy 22q11 . The independence of the syndrome has not been clearly established.

Clinical manifestations

Clinical criteria are:

sacral meningomyelocele with hydrocephalus
complex heart vitium ( transposition of the great arteries , truncus arteriosus communis )
Facial dysmorphism: deep-seated auricles, retrognathy , short neck
sometimes unilateral renal agenesis

diagnosis

The diagnosis can be made prenatally .

literature

K. Maclean, MJ Field, AS Colley, DR Mowat, DB Sparrow, SL Dunwoodie, EP Kirk: Kousseff syndrome: a causally heterogeneous disorder. In: American journal of medical genetics. Part A. Volume 124A, Number 3, January 2004, pp. 307-312, doi: 10.1002 / ajmg.a.20418 , PMID 14708106 .
S. Forrester, MJ Kovach, RE Smith, L. Rimer, M. Wesson, VE Kimonis: Kousseff syndrome caused by deletion of chromosome 22q11-13. In: American journal of medical genetics. Volume 112, Number 4, November 2002, pp. 338-342, doi: 10.1002 / ajmg.10625 , PMID 12376934 .
MJ Seller, S. Mohammed, J. Russell, C. Ogilvie: Microdeletion 22q11.2, Kousseff syndrome and spina bifida. In: Clinical dysmorphology. Volume 11, Number 2, April 2002, pp. 113-115, PMID 12002140 .

Individual evidence

↑ ^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 .
↑ ^a ^b ^c ^d Koussef syndrome. In: Orphanet (Rare Disease Database).
↑ BG Kousseff: sacral meningocele with conotruncal heart defects: autosomal recessive trait a possible. In: Pediatrics. Volume 74, Number 3, September 1984, pp. 395-398, PMID 6472972 .
↑ HV Toriello, JK Sharda, EJ Beaumont: Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome). In: American journal of medical genetics. Volume 22, Number 2, October 1985, pp. 357-360, doi: 10.1002 / ajmg.1320220220 , PMID 4050868 .
↑ MT Canda, N. Demir, FU Bal, L. Doganay, O. Sezer: Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome. In: The journal of obstetrics and gynecology research. Volume 38, Number 4, April 2012, pp. 737-740, doi: 10.1111 / j.1447-0756.2011.01770.x , PMID 22380655 .

[Leiber-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 .

[Orpha-2] Koussef syndrome. In: Orphanet (Rare Disease Database).

[3] BG Kousseff: sacral meningocele with conotruncal heart defects: autosomal recessive trait a possible. In: Pediatrics. Volume 74, Number 3, September 1984, pp. 395-398, PMID 6472972 .

[4] HV Toriello, JK Sharda, EJ Beaumont: Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome). In: American journal of medical genetics. Volume 22, Number 2, October 1985, pp. 357-360, doi: 10.1002 / ajmg.1320220220 , PMID 4050868 .

[5] MT Canda, N. Demir, FU Bal, L. Doganay, O. Sezer: Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome. In: The journal of obstetrics and gynecology research. Volume 38, Number 4, April 2012, pp. 737-740, doi: 10.1111 / j.1447-0756.2011.01770.x , PMID 22380655 .