Clinical features and management issues in Mowat-Wilson syndrome

Margaret P. Adam, Susan Schelley, Renata Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John Graham, Anne Slavotinek, Madelena Martin, Kim Keppler-Noreuil, Andrea L. Storm, Louanne Hudgins

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Mowat-Wilson syndrome (MWS) is a relatively newly described multiple congenital anomaly/mental retardation syndrome. Haploinsufficiency of a gene termed ZFHX1B (also known as SIP1) on chromosome 2 is responsible for this condition, and clinical genetic testing for MWS recently became available. The majority of reports in the literature originate from Northern Europe and Australia. Here we report our clinical experience with 12 patients diagnosed with MWS within a 2-year period of time in the United States, with particular emphasis on clinical characteristics and management strategies. Individuals with this condition have characteristic facial features, including microcephaly, hypertelorism, medially flared and broad eyebrows, prominent columella, pointed chin, and uplifted earlobes, which typically prompt the clinician to consider the diagnosis. Medical issues in our cohort of patients included seizures (75%) with no predeliction for any particular seizure type; agenesis of the corpus callosum (60% of our patients studied); congenital heart defects (75%), particularly involving the pulmonary arteries and/or valves; hypospadias (55% of males); severely impaired or absent speech (100% of individuals over 1 year of age) with relatively spared receptive language; and Hirschsprung disease (50%) or chronic constipation (25%). The incidence of MWS is unknown, but based on the number of patients identified in a short period of time within the US, it is likely greatly under recognized. MWS should be considered in any individual with severely impaired or absent speech, especially in the presence of seizures and anomalies involving the pulmonary arteries (particularly pulmonary artery sling) or pulmonary valves.

Original languageEnglish (US)
Pages (from-to)2730-2741
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number24
DOIs
StatePublished - Dec 15 2006
Externally publishedYes

Fingerprint

Pulmonary Artery
Pulmonary Valve
Seizures
Hypertelorism
Agenesis of Corpus Callosum
Eyebrows
Haploinsufficiency
Hirschsprung Disease
Microcephaly
Hypospadias
Chin
Chromosomes, Human, Pair 2
Congenital Heart Defects
Genetic Testing
Constipation
Intellectual Disability
Language
Mowat-Wilson syndrome
Incidence
Genes

Keywords

  • Absent speech
  • Hirschsprung disease
  • Mowat-Wilson syndrome
  • Pulmonary artery sling
  • SIP1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., Blumberg, B., ... Hudgins, L. (2006). Clinical features and management issues in Mowat-Wilson syndrome. American Journal of Medical Genetics, Part A, 140(24), 2730-2741. https://doi.org/10.1002/ajmg.a.31530

Clinical features and management issues in Mowat-Wilson syndrome. / Adam, Margaret P.; Schelley, Susan; Gallagher, Renata; Brady, April N.; Barr, Kimberly; Blumberg, Bruce; Shieh, Joseph T.C.; Graham, John; Slavotinek, Anne; Martin, Madelena; Keppler-Noreuil, Kim; Storm, Andrea L.; Hudgins, Louanne.

In: American Journal of Medical Genetics, Part A, Vol. 140, No. 24, 15.12.2006, p. 2730-2741.

Research output: Contribution to journalArticle

Adam, MP, Schelley, S, Gallagher, R, Brady, AN, Barr, K, Blumberg, B, Shieh, JTC, Graham, J, Slavotinek, A, Martin, M, Keppler-Noreuil, K, Storm, AL & Hudgins, L 2006, 'Clinical features and management issues in Mowat-Wilson syndrome', American Journal of Medical Genetics, Part A, vol. 140, no. 24, pp. 2730-2741. https://doi.org/10.1002/ajmg.a.31530
Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B et al. Clinical features and management issues in Mowat-Wilson syndrome. American Journal of Medical Genetics, Part A. 2006 Dec 15;140(24):2730-2741. https://doi.org/10.1002/ajmg.a.31530
Adam, Margaret P. ; Schelley, Susan ; Gallagher, Renata ; Brady, April N. ; Barr, Kimberly ; Blumberg, Bruce ; Shieh, Joseph T.C. ; Graham, John ; Slavotinek, Anne ; Martin, Madelena ; Keppler-Noreuil, Kim ; Storm, Andrea L. ; Hudgins, Louanne. / Clinical features and management issues in Mowat-Wilson syndrome. In: American Journal of Medical Genetics, Part A. 2006 ; Vol. 140, No. 24. pp. 2730-2741.
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