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)