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Otofacial neurodevelopmental syndrome(OFNS)

MedGen UID:
1857968
•Concept ID:
C5935642
•
Disease or Syndrome
Synonyms: OFNS; OTOFACIAL NEURODEVELOPMENTAL SYNDROME
 
Gene (location): ZSCAN10 (16p13.3)
 
Monarch Initiative: MONDO:0975705
OMIM®: 620910

Definition

Otofacial neurodevelopmental syndrome (OFNS) is an autosomal recessive disorder characterized by global developmental delay, behavioral abnormalities, and variable facial asymmetry with outer and inner ear malformations and hearing impairment (Laugwitz et al., 2024). [from OMIM]

Recent clinical studies

Diagnosis

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB
Brain 2024 Jul 5;147(7):2471-2482. doi: 10.1093/brain/awae058. PMID: 38386308Free PMC Article

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