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Acromelic Frontonasal Dysostosis

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Hypertelorism
3.	Craniosynostoses (Craniosynostosis)
4.	Cleft Palate (Palate, Cleft)
5.	Telecanthus

Experts

1.	García-Santiago, Fe Amalia: 1 article (03/2021)
2.	Gavin, Eduardo: 1 article (03/2021)
3.	Heath, Karen E: 1 article (03/2021)
4.	Mansilla-Aparicio, Elena: 1 article (03/2021)
5.	Martínez-Payo, Cristina: 1 article (03/2021)

Therapies and Procedures

1.

Sutures (Suture)

03/01/2021 - "Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the ZSWIM6 (KIAA1577) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. "