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Warsaw Syndrome

Authors :
Alkhunaizi E
Brosh RM Jr
Alkuraya FS
Chitayat D
Adam MP
Ardinger HH
Pagon RA
Wallace SE
Bean LJH
Gripp KW
Mirzaa GM
Amemiya A
Source :
1993.
Publication Year :
1993

Abstract

Clinical Characteristics: Warsaw syndrome is characterized by the clinical triad of severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia. Intellectual disability is typically in the mild-to-moderate range. Severe speech delay is common. Gross and fine motor milestones are usually attained at the usual time, although a few individuals have mild delays. Additional common features include skeletal anomalies and cardiovascular anomalies. Abnormal skin pigmentation and genitourinary malformations have also been reported. Some individuals have had increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes treated with diepoxybutane and mitomycin C.<br />Diagnosis/testing: The diagnosis of Warsaw syndrome is established in a proband by identification of biallelic pathogenic variants in DDX11 on molecular genetic testing.<br />Management: Treatment of manifestations: Supplementary formula and/or gastrostomy tube as needed to optimize nutrition. Treatments for hearing loss include hearing aids, cochlear implantation, auditory brain stem implant; establishing system of communication and hearing habilitation that may include sign language, auditory therapy, speech therapy; educational programs designed for individuals with hearing impairment. Treatment of cardiac anomalies as per cardiologist; treatment of genitourinary anomalies as per nephrologist and/or urologist; early intervention and psychological evaluations; physical, occupational, and speech therapies. Surveillance: Monitor growth, speech development, and educational needs with each visit; there is no consensus regarding tumor screening.<br />Genetic Counseling: Warsaw syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the DDX11 pathogenic variants in the family are known.<br /> (Copyright © 1993-2021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.)

Details

Language :
English
Database :
MEDLINE
Journal :
GeneReviews ®
Publication Type :
Review
Accession number :
31169992