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 language | English (US) |
|---|---|
| Pages (from-to) | 2730-2741 |
| Number of pages | 12 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 140 |
| Issue number | 24 |
| DOIs | |
| State | Published - Dec 15 2006 |
| Externally published | Yes |
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Keywords
- Absent speech
- Hirschsprung disease
- Mowat-Wilson syndrome
- Pulmonary artery sling
- SIP1
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Clinical features and management issues in Mowat-Wilson syndrome
AU - Adam, Margaret P.
AU - Schelley, Susan
AU - Gallagher, Renata
AU - Brady, April N.
AU - Barr, Kimberly
AU - Blumberg, Bruce
AU - Shieh, Joseph T.C.
AU - Graham, John
AU - Slavotinek, Anne
AU - Martin, Madelena
AU - Keppler-Noreuil, Kim
AU - Storm, Andrea L.
AU - Hudgins, Louanne
PY - 2006/12/15
Y1 - 2006/12/15
N2 - 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.
AB - 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.
KW - Absent speech
KW - Hirschsprung disease
KW - Mowat-Wilson syndrome
KW - Pulmonary artery sling
KW - SIP1
UR - http://www.scopus.com/inward/record.url?scp=33845276285&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33845276285&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31530
DO - 10.1002/ajmg.a.31530
M3 - Article
C2 - 17103451
AN - SCOPUS:33845276285
VL - 140
SP - 2730
EP - 2741
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 24
ER -