Toriello Syndrome

Classification according to ICD-10
Q75.8	Other specified congenital malformations of the skull and facial bones
ICD-10 online (WHO version 2019)

The Toriello syndrome is a very rare congenital form of fronto-nasal dysplasia .

Synonyms are: acromelic frontonasal dysplasia; English Acromelic frontonasal dysostosis

The name refers to the first author of the first description from 1986 by Helga V. Toriello and colleagues.

distribution

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

root cause

The disease are mutations in ZSWIM6 - gene on chromosome 5 locus q12.1 basis (Zinc Finger Swim Domain Containing Protein 6).

Clinical manifestations

Clinical criteria are:

• Facial abnormalities such as large fontanels , hypertelorism , split or wide nose tip, brachycephaly , dysraphia of the center of the face
• Malformations in the brain such as corpus callosum agenesis , lipomas between the hemispheres, encephaloceles or meningoceles
• Skeletal malformations such as aplasia or hypoplasia of the shin , clubfoot , polydactyly , thickened toenails in the big toe
• Mental disability

In addition to anophthalmia , myopia , hypopituitarism and cryptorchidism come.

literature

• A. Verloes, Y. Gillerot, E. Walczak, L. Van Maldergem, L. Koulischer: Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). In: American journal of medical genetics. Vol. 42, No. 2, January 1992, pp. 180-183, doi: 10.1002 / ajmg.1320420209 , PMID 1733166 (review).

Individual evidence

1. ↑ ^{a b c} Dysplasia, acromele frontonasal. In: Orphanet (Rare Disease Database).
2. ↑ HV Toriello, LL Radecki, J. Sharda, D. Looyenga, R. Mann: Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. In: American journal of medical genetics. Supplement. Vol. 2, 1986, pp. 89-96, PMID 3146304 (review).
3. ↑ Acromelic frontonasal dysostosis.  In: Online Mendelian Inheritance in Man . (English)
4. ^ Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !