Agnathia holoprosencephaly complex. It occurs in every 1 in 70,000 embryos.



Agnathia holoprosencephaly complex. Agnathia-holoprosencephaly is a developmental field complex anomaly that affects the development of the face and brain and can be associated with situs inversus and other visceral anomalies. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH). May 6, 2015 · Agnathia-otocephaly (AGOTC) 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. Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. The incidence is estimated to be 1 in 70,000 Dec 11, 2012 · Otocephaly, Agnathia with holoprosencephaly is a complex, lethal anomaly characterized by hypoplasia or absence of the mandible with abnormally positioned ears and any form of holoprosencephaly. 2002). Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. . Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported Agnathia is an extremely rare lethal neurocristopathy. “Agnathia” means the lower jaw (mandible) is missing or very under-developed. It is caused by a disruption to the development of the first branchial arch. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. It occurs in every 1 in 70,000 embryos. The syndrome complex of otocephaly is divided into four types: 1) Isolated agnathia; 2) Agnathia with holoprosencephaly; 3) Agnathia with situs inversus and visceral anomalies; 4) Agnathia, holoprosencephaly, situs inversus and other visceral anomalies [6]. Sep 1, 2007 · A case report of the agnathia holoprosencephaly complex and a review of the literature related to the complex genetic and embryologic aetiology of this group of major birth defects of face Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). Jun 26, 2002 · Agnathia-holoprosencephaly is a complex, lethal anomaly characterized by hypoplasia or absence of the mandible with abnormally positioned ears and holoprosencephaly. Jun 28, 2017 · Agnathia is an extremely rare lethal neurocristopathy. Sep 10, 2025 · Dysgnathia complex with agnathia–holoprosencephaly is a very rare birth defect pattern that affects the face and the brain together. Jan 1, 2015 · Agnathia is an extremely rare lethal neurocristopathy. The incidence is estimated to be 1 in 70,000 Agnathia-otocephaly complex is caused by genetic mutations, also known as pathogenic variants. bx sskyq xlvwm ixu ckggx x8r gwc7 ycziba qscvob 4eggi8x