Mowat-Wilson syndrome

Mowat Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.^[1]

Presentation

Mowat-Wilson Syndrome, clinical features of Patient 1 at age: (A) 1 year and 6 months; (B-C) 5 years; (D-E) 13 years and 8 months; (F-G) 18 years.

The disorder is characterized by a number of health defects including Hirschsprung’s disease, mental retardation, seizure disorder, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum. Distinctive physical features include microcephaly, narrow chin, cupped ears with protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.

Causes

The disorder is an autosomal dominant disorder resulting from new mutations or deletions of the ZFHX1B (SMADIP1) gene on chromosome 2q22. However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable.

Prognosis

There is no cure for this syndrome. Treatment is supportive and symptomatic.

References

↑ “Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 — Mowat et al. 35 (8): 617 — Journal of Medical Genetics”. Retrieved 2007-08-23.

External links

Template:WH Template:WS

[1] “Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 — Mowat et al. 35 (8): 617 — Journal of Medical Genetics”. Retrieved 2007-08-23.

[1]