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Weiss-Kruszka syndrome

MedGen UID:
977438
Concept ID:
CN294398
Disease or Syndrome
Synonym: WSKA
 
Gene (location): ZNF462 (9q31.2)
 
Monarch Initiative: MONDO:0032836
OMIM®: 618619

Disease characteristics

Excerpted from the GeneReview: Weiss-Kruszka Syndrome
Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected individuals may also have ear anomalies, feeding difficulties (sometimes requiring placement of a gastrostomy tube), and congenital heart defects. There is significant variability in the clinical features, even between affected members of the same family. [from GeneReviews]
Authors:
Paul Kruszka   view full author information

Additional description

From OMIM
Weiss-Kruszka syndrome (WSKA) is an autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations (summary by Kruszka et al., 2019).  http://www.omim.org/entry/618619

Recent clinical studies

Diagnosis

Han C, Chen C, Zhang Y, Li H
BMC Med Genomics 2024 Nov 5;17(1):261. doi: 10.1186/s12920-024-02035-x. PMID: 39501256Free PMC Article
Brady L, Ballantyne M, Duck J, Fisker T, Kleefman R, Li C, Nfonsam L, Schultz LA, Tarnopolsky M, McCready E
Mol Genet Genomic Med 2023 Mar;11(3):e2116. Epub 2022 Dec 3 doi: 10.1002/mgg3.2116. PMID: 36461789Free PMC Article
González-Tarancón R, Salvador-Rupérez E, Miramar Gallart MD, Barroso E, Díez García-Prieto I, Pérez Delgado R, López Pisón J, García Jiménez MC
Acta Clin Belg 2022 Feb;77(1):118-121. Epub 2020 Jun 16 doi: 10.1080/17843286.2020.1780391. PMID: 32543299
Park J, Ha DJ, Seo GH, Maeng S, Kang SM, Kim S, Lee JE
J Korean Med Sci 2021 May 10;36(18):e133. doi: 10.3346/jkms.2021.36.e133. PMID: 33975400Free PMC Article

Prognosis

Han C, Chen C, Zhang Y, Li H
BMC Med Genomics 2024 Nov 5;17(1):261. doi: 10.1186/s12920-024-02035-x. PMID: 39501256Free PMC Article

Clinical prediction guides

Han C, Chen C, Zhang Y, Li H
BMC Med Genomics 2024 Nov 5;17(1):261. doi: 10.1186/s12920-024-02035-x. PMID: 39501256Free PMC Article
Brady L, Ballantyne M, Duck J, Fisker T, Kleefman R, Li C, Nfonsam L, Schultz LA, Tarnopolsky M, McCready E
Mol Genet Genomic Med 2023 Mar;11(3):e2116. Epub 2022 Dec 3 doi: 10.1002/mgg3.2116. PMID: 36461789Free PMC Article
Park J, Ha DJ, Seo GH, Maeng S, Kang SM, Kim S, Lee JE
J Korean Med Sci 2021 May 10;36(18):e133. doi: 10.3346/jkms.2021.36.e133. PMID: 33975400Free PMC Article

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