Pseudotrisomy 13 Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The pseudotrisomy 13 syndrome is a very rare, congenital disease without chromosomal aberrations with the main features holoprosencephaly , postaxial (on the side of the fifth ray) polydactyly and other malformations such as trisomy 13 .
Synonyms are: holoprosencephaly - postaxial polydactyly syndrome; English Young-Madders syndrome
The name refers to the authors of the first description from 1987 by the British paediatricians I. D Young and DJ Madders.
The term “pseudotrisomy 13” was proposed in 1989 by BG Hewitt and co-workers.
distribution
The frequency and cause are not known, the inheritance is autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- Manifestation as a newborn or prenatal
- Holoprosencephaly
- Pronounced facial dysmorphism such as hypotelorism , microphthalmia or anophthalmia , cleft lip and palate
- postaxial polydactyly
- often congenital heart defects
diagnosis
A prenatal diagnosis using fine ultrasound is possible.
Prospect of healing
The prognosis is unfavorable.
literature
- SM Bous, BD Solomon, L. Graul-Neumann, H. Neitzel, EE Hardisty, M. Muenke: Holoprosencephaly-polydactyly / pseudotrisomy 13: a presentation of two new cases and a review of the literature. In: Clinical dysmorphology. Vol. 21, No. 4, October 2012, pp. 183-190, doi: 10.1097 / MCD.0b013e3283551fd0 , PMID 22643382 , PMC 4131985 (free full text) (review).
- S. Schulz, C. Gerloff, T. Kalinski, C. Mawrin, D. Kanakis, D. Haas, H. Hahn, P. Wieacker: Pseudotrisomy 13: clinical findings and genetic implications. In: Fetal diagnosis and therapy. Vol. 20, No. 6, 2005 Nov-Dec, pp. 501-503, doi: 10.1159 / 000088038 , PMID 16260883 .
Individual evidence
- ↑ a b c d Holoprosencephaly - postaxial polydactyly. In: Orphanet (Rare Disease Database).
- ↑ ID Young, DJ Madders: syndrome Unknown: holoprosencephaly, congenital heart defects, and polydactyly. In: Journal of medical genetics. Vol. 24, No. 11, November 1987, pp. 714-715, PMID 3430550 , PMC 1050355 (free full text).
- ↑ BG Hewitt, MJ Seller, CP Bennett, DM Maxwell: Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13? In: Clinical genetics. Vol. 36, No. 2, August 1989, pp. 141-143, PMID 2766571 .
- ↑ GE Utine, Y. Alanay, D. Aktas, B. Talim, G. Kale, E. Tunçbilek: Pseudo-trisomy 13 in a fetus: Further support for autosomal recessive inheritance. In: The Turkish journal of pediatrics. Vol. 50, No. 3, 2008 May-Jun, pp. 287-290, PMID 18773678 .
