Elschnig syndrome

Classification according to ICD-10
Q87.8	Other congenital malformation syndromes with other skeletal changes
ICD-10 online (WHO version 2019)

The Elschnig syndrome (also: Blepharo-Cheilo-Dontie syndrome or Elschnig complex ) is a rare congenital malformation of the eyelids with elongation of the eyelid fissure laterally and outward rotation ( ectropion ) of the lower eyelid.

The disease is named after the person who first described it in 1912, the Austrian ophthalmologist Anton Elschnig (1863–1939).

Synonyms are:

Blepharo cheilodontic syndrome (BCD syndrome)
Ectropion, inferior - cleft lip and / or palate
Elsching syndrome
Cleft palate - ectropion - conical teeth
Lagophthalmus - cleft lip and palate

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

clinic

Clinical criteria are:

Lengthening of the eyelid fissure laterally
Displacement of the outer corner of the eyelid outwards and downwards
Ectropion of the lower eyelid and the lateral corner of the eye

Often there are other malformations such as hypertelorism , cleft palate, cleft lip.

Differential diagnosis

Differential diagnostics are to be distinguished:

Greig syndrome
Franceschetti Syndrome I.
Apert Syndrome I.
Goldenhar Syndrome
EEC syndrome
Hay-Wells syndrome (AEC syndrome), both due to mutations in the P63 gene
Van der Woude syndrome , mutations in the IRF6 (interferon-regulating factor 6) gene

Individual evidence

↑ ^a ^b 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
↑ Who named it
^ A. Elschnig: On the knowledge of the anomalies of the shape of the eyelids. 1912 in: Clinical monthly sheets for ophthalmology 50, pp. 17–30
↑ ^a ^b ^c Elschnig syndrome. In: Orphanet (Rare Disease Database).

Web links

Elschnig syndrome. In: Online Mendelian Inheritance in Man . (English)

[Leiber-1] 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

[2] Who named it

[3] A. Elschnig: On the knowledge of the anomalies of the shape of the eyelids. 1912 in: Clinical monthly sheets for ophthalmology 50, pp. 17–30

[Orpha-4] Elschnig syndrome. In: Orphanet (Rare Disease Database).