Delleman Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Delleman syndrome or oculo-cerebro-cutaneous syndrome , also called Delleman-Oorthuys syndrome , is a very rare congenital disease with malpositions of the eyes, brain and skin defects on the face.
Epidemiology
The frequency is given as less than one in a million. The disease occurs twice as often in boys than in girls.
diagnosis
For the diagnosis of Delleman syndrome the following must be present in combination:
- Cysts in the brain or a hydrocephalus
- Cysts in the orbit or a microphthalmia
- Circumscribed skin defects
The changes to the brain can also be poreencephaly , lack of bars or larger cystic defects, the changes to the eyes can also be in the skin appendages next to the eye sockets or the absence of an eyeball.
In addition, there may be cleft lip and palate or endocrine disorders ( panhypopituitarism ).
Some of the changes can already be seen prenatally on ultrasound . The malformations of the brain and the eye socket can be demonstrated in detail in the magnetic resonance tomogram .
therapy
There is no known therapy and the survival rate is reported as low.
literature
- OMIM entry
- V. Arora, UR Kim, HM Khazei: Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'. In: Indian journal of ophthalmology. Volume 57, Number 5, 2009 Sep-Oct, pp. 387-389. ISSN 0301-4738 . doi: 10.4103 / 0301-4738.55074 . PMID 19700879 . PMC 2804129 (free full text).
Individual evidence
- ↑ Disesasesdatabase
- ↑ a b c d Delleman syndrome. In: Orphanet (Rare Disease Database).
- ↑ PC Brugger, W. Arzt, D. Prayer: Prenatal diagnosis of Delleman syndrome. In: Prenatal diagnosis. Volume 27, Number 4, April 2007, pp. 356-361. ISSN 0197-3851 . doi: 10.1002 / pd.1676 . PMID 17295348 .
- ↑ SJ Patil, SR Phadke: Delleman syndrome. In: Indian Pediatrics. 2006, Volume 43, pp. 173-174.
