Mowat-Wilson syndrome

Classification according to ICD-10
Q43.1	Hirschsprung Disease
ICD-10 online (WHO version 2019)

The Mowat-Wilson syndrome is a rare genetic disease with the main features of a megacolon and congenital mental retardation , a so-called "multiple congenital anomaly-" syndrome.

Synonyms are: English Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or without Hirschsprung Disease; Hirschsprung Disease-Mental Retardation Syndrome

The name refers to the main authors of the first description from 1998 by the Australian pediatricians DR Mowat and MJ Wilson.

distribution

The frequency is unknown; fewer than 200 patients have been reported to date. The inheritance is autosomal dominant .

root cause

The disease is based on heterozygous mutations in the ZEB2 / ZFHX1B / SIP1 gene at locus 2q22.3. The latter codes for the SMAD interacting protein . So far, a large number of deletions and mutations with corresponding subgroups have been described.

Monosomy (Hirschsprung disease and mental retardation due to Del (2) (q22) or due to monosomy 2q22 or due to microdeletion 2q22)
Point mutations (Hirschsprung's disease and intellectual impairment due to point mutations)

Clinical manifestations

Clinical criteria are:

Facial abnormalities such as high forehead, long eyebrows , hypertelorism , deep-set eyes, saddle nose, triangular chin
different degrees of intellectual disability
Convulsions
congenital malformations such as congenital megacolon, hypospadias , abnormalities in the urogenital system , heart defects , corpus callosum agenesis

diagnosis

The diagnosis is based on the clinical abnormalities, and confirmation is provided by human genetic testing .

Differential diagnosis

Most of the disorders that can be encountered in this syndrome also occur in isolation. Clinically, the following syndromes are to be distinguished:

Shprintzen-Goldberg Syndrome
Angelman Syndrome
Smith-Lemli-Opitz syndrome
Rubinstein-Taybi Syndrome
Pitt-Hopkins Syndrome
other syndromes with congenital megacolon as a feature such as:
- Al Gazali-Hirschsprung Disease (Al Gazali-Hirschsprung Disease; Al Gazali-Donnai-Mueller Syndrome)
- Santos Mateus Leal Syndrome
- Waardenburg syndrome , type IV (Waardenburg-Shah syndrome; peripheral demyelinating neuropathy-central demyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease)
- Hirschsprung's disease with ganglioneuroblastoma
- Hirschsprung disease type D (with brachydactyly )

literature

E. Ferris Villanueva, R. Guerrero Bautista, A. Chica Marchal: Hirschsprung disease associated with Mowat-Wilson syndrome: report of a case. In: Nutrición hospitalaria. Volume 31, No. 4, 2015, pp. 1882-1884, doi: 10.3305 / nh.2015.31.4.8379 , PMID 25795985 .
CE Steiner: Mowat-Wilson syndrome. In: Arquivos de neuro-psiquiatria. Volume 73, No. 1, January 2015, pp. 1-2, doi: 10.1590 / 0004-282X20140224 , PMID 25608118 .

Web links

Genetics Home Reference

Individual evidence

↑ ^a ^b ^c ^d Orphanet Mowat-Wilson syndrome
↑ DR Mowat, GD Croaker, DT Cass, BA Kerr, J. Chaitow, LC Adès, NL Chia, MJ Wilson: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosomes 2q22-q23. In: Journal of medical genetics , Volume 35, No. 8, August 1998, pp. 617-623, PMID 9719364 , PMC 1051383 (free full text).
^ Mowat-Wilson syndrome. In: Online Mendelian Inheritance in Man . (English)
^ Mowat-Wilson syndrome due to monosomy 2q22. In: Orphanet (Rare Disease Database).
↑ Mowat-Wilson syndrome due to point mutations in the ZEB2 gene. In: Orphanet (Rare Disease Database).
^ Gene Reviews
↑ Hirschsprung's disease - nail hypoplasia - dysmorphism. In: Orphanet (Rare Disease Database).
↑ Hirschsprung's disease - polydactyly - inner ear deafness. In: Orphanet (Rare Disease Database).
↑ Waardenburg-Shah syndrome, neurological variant. In: Orphanet (Rare Disease Database).
↑ Hirschsprung's disease - ganglioneuroblastoma. In: Orphanet (Rare Disease Database).
↑ Hirschsprung's disease type D - brachydactyly. In: Orphanet (Rare Disease Database).

[Orpha-1] Orphanet Mowat-Wilson syndrome

[2] DR Mowat, GD Croaker, DT Cass, BA Kerr, J. Chaitow, LC Adès, NL Chia, MJ Wilson: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosomes 2q22-q23. In: Journal of medical genetics , Volume 35, No. 8, August 1998, pp. 617-623, PMID 9719364 , PMC 1051383 (free full text).

[3] Mowat-Wilson syndrome. In: Online Mendelian Inheritance in Man . (English)

[4] Mowat-Wilson syndrome due to monosomy 2q22. In: Orphanet (Rare Disease Database).

[5] Mowat-Wilson syndrome due to point mutations in the ZEB2 gene. In: Orphanet (Rare Disease Database).

[6] Gene Reviews

[7] Hirschsprung's disease - nail hypoplasia - dysmorphism. In: Orphanet (Rare Disease Database).

[8] Hirschsprung's disease - polydactyly - inner ear deafness. In: Orphanet (Rare Disease Database).

[9] Waardenburg-Shah syndrome, neurological variant. In: Orphanet (Rare Disease Database).

[10] Hirschsprung's disease - ganglioneuroblastoma. In: Orphanet (Rare Disease Database).

[11] Hirschsprung's disease type D - brachydactyly. In: Orphanet (Rare Disease Database).