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Autosomal dominant complex developmental disorder characterized by short stature, microcephaly, severe mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal nerve levels.

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Hirschsprung Disease Syndrome; Hirschsprung Disease-Mental Retardation Syndrome.

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Autosomal dominant pattern. It is believed to be caused by a mutation in the SMAD-interacting protein 1 gene (SMAD1P1).

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Patients present with short stature, microcephaly, hypertelorism and iris coloboma, ptosis, convergent strabismus, and wide nasal bridge. The cardiovascular system is always affected and involves a patent ductus arteriosus and ventricular septal defect. Neurologically, the presence of severe mental retardation and seizure activities must be noted. Most patients are affected with muscle hypotonia. Abdominal distension, megacolon, and vomiting are frequent features. Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel.

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Preoperatively, complete assessment of the cardiac function must be done. Use of antibiotic for cardiac protection is mandatory. Myoclonic seizures are frequent, and oral antiepileptic therapy must be evaluated carefully and possibly replaced by intravenous medications. The presence of hypotonia must be taken into consideration if muscle relaxation is indicated. No pharmacological contraindications are associated with this syndrome.

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Mietens-Weber Syndrome: Autosomal recessive pattern characterized by severe mental retardation, corneal opacity, nystagmus, strabismus, small pinched nose, flexion contracture of the elbows, dislocation of head of radius, abnormally short ulna and radius, and clinodactyly.

Cerruti Mainardi P, Pastore G, Zweier C, et al: Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: A well defined clinical entity. J Med Genet 41:E16, 2004.
Mowat DR, Wilson MJ, Goossens M: Mowat-Wilson syndrome. J Med Genet 40:305, 2003.  [PubMed: 12746390]

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