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.
Hirschsprung Disease Syndrome; Hirschsprung
Disease-Mental Retardation Syndrome.
Autosomal dominant pattern. It
is believed to be caused by a mutation in the SMAD-interacting protein 1
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.
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.
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