Blepharo-Naso-Facial Syndrome

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

The blepharo-naso-facial syndrome , also called Pashayan syndrome or Pashayan-Pruzansky syndrome after the first description , is a combination of these that has only been described in a few families

Intellectual disabilities
Telekanthus
Lacrimal duct obstruction
Torsional dystonia
antimongoloid lid axis .

In addition, malformations of the extremities can occur.

The very rare disease occurs in fewer than 1 in 1 million and can be inherited as an autosomal or x-linked dominant trait.

The cerebro-facial-articular syndrome ( Van-Maldergem syndrome or Van-Maldergem-Wetzburger-Verloes syndrome ) has been described as a subgroup of the blepharo-naso-facial syndrome

Individual evidence

^ H. Pashayan, S. Pruzansky, A. Putterman: A family with blepharo-naso-facial malformations. In: American journal of diseases of children (1960). Volume 125, Number 3, March 1973, pp. 389-393, ISSN 0002-922X . PMID 4692594 .
^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
↑ Blepharo-Naso-Facial Syndrome. In: Orphanet (Rare Disease Database).
↑ L. van Maldergem, C. Wetzburger, A. Verloes, C. Fourneau, Y. Gillerot: Mental retardation with Blepharo-naso-facial abnormalities and hand malformations: a new syndrome? In: Clinical genetics. Volume 41, Number 1, January 1992, pp. 22-24, ISSN 0009-9163 . PMID 1633641 .
↑ G. Zampino, C. Colosimo, F. Balducci, P. Mariotti, F. Serra, G. Scarano, P. Mastroiacovo: Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR / MCA syndrome. In: Clinical genetics. Volume 45, Number 3, March 1994, pp. 140-144, ISSN 0009-9163 . PMID 8026105 .

[1] H. Pashayan, S. Pruzansky, A. Putterman: A family with blepharo-naso-facial malformations. In: American journal of diseases of children (1960). Volume 125, Number 3, March 1973, pp. 389-393, ISSN 0002-922X . PMID 4692594 .

[2] B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

[3] Blepharo-Naso-Facial Syndrome. In: Orphanet (Rare Disease Database).

[4] L. van Maldergem, C. Wetzburger, A. Verloes, C. Fourneau, Y. Gillerot: Mental retardation with Blepharo-naso-facial abnormalities and hand malformations: a new syndrome? In: Clinical genetics. Volume 41, Number 1, January 1992, pp. 22-24, ISSN 0009-9163 . PMID 1633641 .

[5] G. Zampino, C. Colosimo, F. Balducci, P. Mariotti, F. Serra, G. Scarano, P. Mastroiacovo: Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR / MCA syndrome. In: Clinical genetics. Volume 45, Number 3, March 1994, pp. 140-144, ISSN 0009-9163 . PMID 8026105 .