Otocephaly

A rare congenital condition characterized by mandibular hypoplasia or agnathia (absence of mandible), mispositioning of the ear auricles (melotia) and/or abnormal fusion of the earlobes (synotia), and MICROSTOMIA with oroglossal hypoplasia or aglossia. It occurs frequently with HOLOPROSENCEPHALY; skeletal, genitourinary, and cardiovascular anomalies, and SITUS INVERSUS may also be present. The disorder is almost always lethal and is caused by mutations in the paired related homeobox 1 gene (PRRX1) OMIM: 202650

Also Known As:

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neural Tube Defects (Exencephaly)
2.	Congenital Abnormalities (Deformity)

Experts

1.	Abgottspon, Désirée: 1 article (04/2022)
2.	Fischer, Tina: 1 article (04/2022)
3.	Kinkel, Janis: 1 article (04/2022)
4.	Rduch, Thomas: 1 article (04/2022)
5.	Bruder, Elisabeth: 1 article (01/2020)
6.	Filges, Isabel: 1 article (01/2020)
7.	Meier, Nicole: 1 article (01/2020)
8.	Miny, Peter: 1 article (01/2020)
9.	Tercanli, Sevgi: 1 article (01/2020)
10.	Araujo Júnior, Edward: 1 article (08/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Otocephaly:

1.	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 07/01/2008 - "Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch."
2.	Trypan BlueFDA Link 02/01/1975 - "Prevention of trypan Blue-induced exencephaly and otocephaly in gestating albino mice."
3.	SalicylatesIBA 01/01/2008 - "Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate."
4.	Messenger RNA (mRNA)IBA 01/01/2020 - "Family-based exome sequencing (ES) on a fetus with severe agnathia-otocephaly, cheilognathopalatoschisis, laryngeal hypoplasia, fused lung lobes and other organ abnormalities and mRNA expression analysis were performed. "
5.	OxymetazolineFDA Link 08/01/2016 - "Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester."
6.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 07/01/2008 - "Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch."

Therapies and Procedures

1.	Airway Management 04/22/2022 - "The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. " 07/15/2016 - "We present a case of a newborn with an unanticipated otocephaly complex requiring emergent airway management. "
2.	Mandibular Reconstruction 01/01/2023 - "To the authors' knowledge, this represents the first application of virtual surgical planning for mandibular reconstruction with a vascularized free fibula flap in a pediatric patient with severe agnathia-otocephaly complex."
3.	Resuscitation 01/01/2006 - "We report two infants with otocephaly and failed resuscitation. "