Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (HCDPH1, also known as Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Braddock-Jones-Superneau syndrome, or simply Hydrocephalus, autosomal dominant) is an autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly), Dandy-Walker malformation, hydrocephalus, and craniofacial dysmorphisms including hypertelorism, micrognathia, and positional ear deformities.[1][2][3][4]

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Other namesDandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
Hydrocephalus, autosomal dominant
Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus
Braddock-Jones-Superneau syndrome
Autosomal dominant inheritance

Signs and symptoms

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Features of this condition include:[1][5]

History

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The first four cases (a mother, her two sons, and an unrelated boy) were reported in 1993. The condition was dubbed "Jones Syndrome" later that year but this term is not widely used as another condition is also known by this name. In 2010, another family of Moroccan-Jewish origin were reported to have the syndrome, and it was noted that the posterior fossa anomalies were most likely responsible for the development of hydrocephalus.[2]

Causes

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The condition is caused by mutations on chromosome 8. The condition is mostly autosomal dominant but X-linked inheritance has also been suggested.[2]

References

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  1. ^ a b "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (Concept ID: C1838347)". Medgen - NCBI. Retrieved September 14, 2023.
  2. ^ a b c "%123155 - HYDROCEPHALUS, AUTOSOMAL DOMINANT; HDCPH1". www.omim.org. Retrieved 2023-09-14.
  3. ^ "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-09-14.
  4. ^ "GARD Rare Disease Information - Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-09-14.
  5. ^ Basel-Vanagaite, L; Raas-Rotchild, A; Kornreich, L; Har-Zahav, A; Yeshaya, J; Latarowski, V; Lerer, I; Dobyns, WB; Shohat, M (November 2010). "Familial hydrocephalus with normal cognition and distinctive radiological features". American Journal of Medical Genetics. Part A. 152A (11): 2743–8. doi:10.1002/ajmg.a.33688. PMID 20979187.