Agnathia-Otocephaly Complex; AGOTC

What is Agnathia-Otocephaly Complex; AGOTC?

Agnathia-Otocephaly Complex; AGOTC is a rare disease. It is also known as Agnathia malformation complex AMC Dysgnathia Complex Agnathia-holoprosencephaly Holoprosencephaly-agnathia Otocephaly Otocephaly-cyclopia syndrome.

Two stillborn sisters had this combination (Pauli et al., 1983). The mandible was extremely small in both, but whereas one had the facial features of cebocephaly the other had downslanting, normally placed palpebral fissures. One case had alobar holoprosencephaly and the other had agenesis of both olfactory bulbs. It should be noted that most cases of agnathia (about 80 cases in the literature) are sporadic. More detailed anatomical studies of the sibs revealed many secondary phenomena such as a deficient tongue, a narrow palate with a keel roof, and low-set ears. One infant had tetralogy of Fallot, malrotation of the gut and a hypoplastic kidney on one side. Subsequent chromosome analysis on one sib showed a 46,XX,der18,t(6;18)(pter->p24.1 or p24.2::p11.21->qter) karyotype with a balanced translocation in the father (Krassikoff and Sekhon, 1989). There are similar autosomal recessive mouse mutants, and other human cases have been reported.
Meinecke et al., (1990) reported a case with situs inversus, anal atresia and horseshoe kidneys. They reviewed similar cases in the literature with 'agnathia-holoprosencephaly-further midline defects association'. Further cases with situs inversus were reported by Leech et al., (1988), Robinson and Lenke (1989), Persutte et al., (1990) and Ozden et al., (2000), Ozden et al., (2002). Stoler and Holmes (1992) reported a case with agnathia and situs inversus, but without CNS defects. Peiffer et al., (1992) reported a case with absent optic nerves, but without holoprosencephaly. There was asymmetric microphthalmos with aphakia and retinal dysplasia in one eye and microcornea, anterior segment dysgenesis, uveal colobomas and retinal dysplasia in the other eye. Ebina et al., (2001) reported a case picked-up at 22 weeks of pregnancy and report detailed ultrasound findings. Apart from craniofacial abnormalities, there were also hemivertebrae in the thoracic region. Chabrolle et al., (1998) reported a case with severe micrognathia and microstomia, hypoglossia. low-set ears, dextrocardia, situs inversus and pituitary aplasia. This case may well fall into the current group.
Persutte et al., (1990), in two papers, reported a 21-week female fetus with this association together with bilobed lungs, situs inversus, polysplenia, duodenal atresia and hydranencephaly. There was cystic dilatation of the oropharynx giving the appearance of a large anterior cervical cyst. They suggested the name Agnathia Malformation Complex (AMC) for this group of disorders.
Ades and Sillence (1992) reported a female fetus with the craniofacial abnormalities of the condition who also had tetramelia of all four limbs, hydronephrosis and a 'three-chambered heart'.

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* This information is courtesy of the L M D.

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What gene changes cause Agnathia-Otocephaly Complex; AGOTC?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 202650 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
PRRX1 - 1q24.2
OTX2 - 14q22.3

What are the main symptoms of Agnathia-Otocephaly Complex; AGOTC?

The typical symptoms of the syndrome are:
Abdominal situs inversus, Microglossia, Micrognathia, Narrow mouth, Laryngeal hypoplasia, Low-set, posteriorly rotated ears, Autosomal recessive inheritance, Autosomal dominant inheritance, Holoprosencephaly, Hypoplasia of the epiglottis, Hypoplasia of penis, Abnormality of the eye, Abnormal cranial nerve morphology, Absent nares, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia involving the nose, Cleft palate, Polyhydramnios, Synotia, Respiratory distress, Respiratory failure, Situs inversus totalis, Phenotypic variability, Aglossia, Tracheomalacia, Agenesis of corpus callosum, Conductive hearing impairment, Downslanted palpebral fissures, Cyclopia

How does someone get tested for Agnathia-Otocephaly Complex; AGOTC?

The initial testing for Agnathia-Otocephaly Complex; AGOTC can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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