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agnathia-otocephaly complex

ICD-10 Codes

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Description

Agnathia-Otocephaly Complex: A Rare and Lethal Condition

Agnathia-otocephaly complex, also known as otocephaly or agnathia-holoprosencephaly-situs inversus syndrome, is a rare and extremely severe congenital condition characterized by the absence or hypoplasia of the mandible (lower jaw), fusion of the ears, and microstomia with tongue abnormalities.

Key Features:

  • Absence or hypoplasia of the mandible (agnathia)
  • Fusion of the ears (synotia) in a median position
  • Microstomia (small mouth opening)
  • Aglossia or lingual hypoplasia (absence or underdevelopment of the tongue)

Additional Features:

  • Association with holoprosencephaly, microphthalmia, or anophthalmia (underdeveloped eyes)
  • Pituitary gland abnormalities
  • Other craniofacial malformations may be present

Incidence and Etiology: The estimated incidence of agnathia-otocephaly complex is less than 1 in 70,000 births. The etiology is linked to both genetic and teratogenic factors.

Clinical Significance: Agnathia-otocephaly complex is a severe anomaly that often results in obstruction of the upper airway at birth, making it a life-threatening condition. Early diagnosis and management are crucial for providing supportive care and improving outcomes.

References:

  • Gekas et al. (2010) - Otocephaly-dysgnathia complex (ODC)
  • Salvesen KA, et al. (2002) - Brains and faces in holoprosencephaly: pre and postnatal description of 30 cases.
  • Other references within the provided context.

Additional Characteristics

  • Otocephaly
  • Agnathia-otocephaly complex
  • Agnathia-holoprosencephaly-situs inversus syndrome

Signs and Symptoms

Signs and Symptoms of Agnathia-Otocephaly Complex

Agnathia-otocephaly complex is a rare and severe congenital disorder characterized by the absence or significant hypoplasia of the mandible (lower jaw), associated with other facial anomalies. The signs and symptoms of this condition can vary in severity, but they often include:

  • Small or absent tongue (microglossia or aglossia): This is a common feature of agnathia-otocephaly complex, where the tongue may be underdeveloped or completely absent [1].
  • Small or absent mouth (microstomia or astomia): The mouth may be smaller than usual or completely absent in individuals with this condition [2].
  • Cyclopia with proboscis: This is a rare feature where the eyes are fused together, and there is a nasal appendage that resembles a proboscis [3].
  • Median cleft lip: A cleft lip may be present in the midline of the face, which can affect feeding and speech development [4].

In addition to these facial anomalies, individuals with agnathia-otocephaly complex may also experience other complications, such as:

  • Abnormality of head or neck: The head or neck may be abnormally shaped or sized.
  • Polyhydramnios: This is a condition where there is an excessive amount of amniotic fluid during pregnancy [5].
  • Abnormality of the cardiovascular system: There may be heart defects or other cardiovascular abnormalities associated with this condition [6].

It's essential to note that agnathia-otocephaly complex is a rare and severe disorder, and the severity of symptoms can vary significantly from one individual to another.

Additional Symptoms

  • Abnormality of head or neck
  • Abnormality of the cardiovascular system
  • Polyhydramnios
  • Median cleft lip
  • Small or absent tongue (microglossia or aglossia)
  • Small or absent mouth (microstomia or astomia)
  • Cyclopia with proboscis

Diagnostic Tests

Diagnostic Tests for Agnathia-Otocephaly Complex

Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation that can be challenging to diagnose. However, various diagnostic tests can help identify this condition.

  • Prenatal Ultrasound: Prenatal ultrasound is an effective tool for screening and diagnosing AOC. It can detect the absence or hypoplasia of the mandible, ventromedial and caudal displacement of the ears, and a small oral aperture [1].
  • Three-Dimensional Ultrasound Technology: Three-dimensional ultrasound technology can provide more detailed information on craniofacial deformity, which is helpful for accurate diagnosis and counseling [3].
  • Computed Tomographic Reconstruction: Computed tomographic reconstruction of the fetus can also aid in diagnosing AOC, particularly in cases where the mandible is absent or hypoplastic [9].

Genetic Testing

While there are no currently available diagnostic genetic tests for pregnancies at risk for agnathia-otocephaly, targeted mutation analysis and sequence analysis of selected exons may be performed to identify specific gene mutations associated with AOC [7][9].

  • Array-CGH: Array-CGH has been used to identify a 107-kb deletion encompassing OTX2 responsible for the agnathia-otocephaly complex phenotype in some cases [10].
  • Sanger Sequencing: Sanger sequencing can be performed to detect point mutations in genes associated with AOC, although this may not be effective in all cases [10].

Other Diagnostic Approaches

In addition to these diagnostic tests, other approaches may be used to aid in the diagnosis of AOC. These include:

  • Prenatal Sonographic Diagnosis: Prenatal sonographic diagnosis can help identify the characteristic features of AOC, such as hypoplastic and absence of the mandible and low-presence ears [15].
  • Clinical Evaluation: Clinical evaluation by a multidisciplinary team, including genetic counselors, obstetricians, and pediatricians, is essential for accurate diagnosis and counseling.

References:

[1] Aug 17, 2021 — Prenatal ultrasound is an effective tool to screen for and diagnose AOC. [3] by X Ji · 2021 · Cited by 6 — Three-dimensional ultrasound technology can provide more detailed information on craniofacial deformity, which is helpful for more accurate diagnosis and ... [7] by B Sabu · 2021 — There are no currently available diagnostic genetic tests for pregnancies at risk for agnathia-otocephaly which can assist genetic counsellors ... [9] Rajan P. V., et al. (2015). Computed tomographic reconstruction of the fetus in a case of agnathia-otocephaly complex. [10] In 4 of the 70 cases described in ..., no point mutation in the three tested genes was detected by Sanger sequencing, while array-CGH has allowed identifying a 107-kb deletion encompassing OTX2 responsible for the agnathia-otocephaly complex phenotype in 1 of them.

Additional Diagnostic Tests

  • Prenatal Ultrasound
  • Array-CGH
  • Three-Dimensional Ultrasound Technology
  • Computed Tomographic Reconstruction
  • Sanger Sequencing
  • Prenatal Sonographic Diagnosis

Treatment

Agnathia-otocephaly complex (AOC) is a rare and often lethal congenital malformation characterized by the absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears. While there are no specific drug treatments for AOC, the management of this condition typically involves a multidisciplinary approach that includes surgical interventions to correct the anatomical abnormalities.

According to search result [5], the ex-utero intrapartum treatment (EXIT) procedure is sometimes used in cases where AOC is diagnosed prenatally. This procedure allows for the delivery and initial stabilization of the newborn while still connected to the placenta, providing a window of opportunity for surgical intervention.

In terms of drug treatment, there are no specific medications that target the underlying causes of AOC. However, as mentioned in search result [3], consultation with a healthcare professional is essential for determining the best course of treatment on an individual basis.

It's worth noting that the management of AOC often involves a team of specialists, including surgeons, pediatricians, and other medical professionals. The primary goal of treatment is to improve the quality of life for individuals affected by this condition, rather than to cure it entirely.

Here are some key points to consider:

  • Surgical interventions, such as the EXIT procedure, may be necessary to correct anatomical abnormalities.
  • There are no specific drug treatments for AOC.
  • Management of AOC typically involves a multidisciplinary approach.
  • Consultation with a healthcare professional is essential for determining the best course of treatment.

References: [3] June 6, 2024 - Please consult with a healthcare ... and treatment. [5] July 25, 2024 - Ex-utero intrapartum treatment (EXIT) procedure.

Recommended Medications

  • No specific medications target the underlying causes of AOC.
  • drug

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation, and its differential diagnosis can be challenging due to its unique characteristics. Based on the search results, here are some potential differential diagnoses for AOC:

  • Holoprosencephaly: This is the most commonly identified association with AOC [7]. Holoprosencephaly is a congenital disorder characterized by the failure of the forebrain to properly divide during embryonic development.
  • Chromosomal abnormalities: Various chromosomal abnormalities have been reported in association with AOC, including trisomy 13 and trisomy 18 [8].
  • Skeletal anomalies: Skeletal anomalies, such as polydactyly or syndactyly, may be present in some cases of AOC.
  • Genitourinary anomalies: Genitourinary anomalies, such as renal agenesis or ectopia, have been reported in association with AOC [9].
  • Cardiovascular anomalies: Cardiovascular anomalies, such as tetralogy of Fallot, may be present in some cases of AOC.
  • Situs inversus: Situs inversus, a rare congenital disorder where the major organs are reversed from their normal positions, has been reported in association with AOC [9].

It's worth noting that the differential diagnosis for AOC can vary depending on the specific characteristics of the case. A thorough evaluation by a multidisciplinary team of specialists is essential to determine the underlying cause of the malformation.

References:

[8] - The differential diagnoses include chromosomal abnormalities ... cluded that diagnosis of agnathia/otocephaly complex can be ... [9] - Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported.

Additional Differential Diagnoses

Additional Information

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A physical disorder 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.
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