" /> Agnathia-otocephaly complex - CISMeF





Preferred Label : Agnathia-otocephaly complex;

Symbol : AGOTC;

CISMeF acronym : AGOTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dysgnathia complex agnathia-holoprosencephaly; HOLOPROSENCEPHALY-AGNATHIA; OTOCEPHALY;

Description : Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the paired-related homeobox gene 1 (PRRX1, 167420.0001);

Prefixed ID : #202650;

Détails


Vous pouvez consulter :


Nous contacter.
28/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.