What is Agnathia-Otocephaly?

Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears.

Is agnathia fatal?

Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).

What causes Agnathia?

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). It is caused by a disruption to the development of the first branchial arch.

What is mandibular hypoplasia?

Mandibular Hypoplasia refers to a jaw that is underdeveloped and small. When a mandible is too small, the teeth may not line up well and lead to an underbite or underjet.

What is a microstomia?

Microstomia is defined as a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral hygiene and cosmetic problems. Several treatment methods for microstomia have been proposed.

What causes small jaw?

Achondrogenesis is a rare inherited disorder in which your child’s pituitary gland doesn’t make enough growth hormone. This causes severe bone problems, including a small lower jaw and a narrow chest.

How do you fix mandibular hypoplasia?

Corrective surgery is the most common treatment used to correct maxillary hypoplasia. It involves repositioning the upper jaw in order to align it with the lower jaw and provide the face with overall symmetry.

What causes microstomia?

The major causes of microstomia are chemical burn with caustic soda material, trauma, and skin cancer excision [1-5,7-9]. If the mouth sustains trauma or a chemical burn, the size of the oral opening can become smaller and dysfunction of mouth opening can occur.

What causes Macrostomia?

Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally.

At what age does the jaw stop developing?

Jaw growth typically ends by age 16 for girls and 18 for boys.

Is there such a thing as agnathia otocephaly?

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.

What kind of malformation is an otocephaly?

Otocephaly is a rare malformation characterized by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). This rare anomaly of the ventral portion of …

What kind of malformation is agnathia microstomia synotia syndrome?

Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly Otocephaly is a rare malformation characterized by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue).

Which is loss of function mutation in agnathia otocephaly complex?

In a fetus with agnathia-otocephaly complex reported by Schiffer et al. (2002), Sergi and Kamnasaran (2011) identified a heterozygous loss-of-function mutation in the PRRX1 gene (F113S; 167420.0001). The PRRX1 gene was selected for sequencing because of its known role in mandibular-facial development.

What is Agnathia-Otocephaly? Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. Is agnathia fatal? Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association.…