Otocephaly is a very rare birth defect that happens very early in pregnancy. The baby’s lower face does not form in the usual way. The lower jaw (mandible) may be missing or extremely small. The ears are placed too close to the middle, sometimes even touching each other at the front of the neck (this is called synotia). The mouth can be very small or almost closed. Because the jaw and tongue do not form well, the airway can be blocked and the baby may not be able to breathe or feed. Otocephaly often occurs together with brain midline problems such as holoprosencephaly. The condition is usually life-threatening.
Otocephaly—also called the agnathia-otocephaly complex—is a very rare birth defect in which the lower jaw (mandible) is absent or extremely under-developed (agnathia). The mouth is very small or absent (microstomia), the tongue may be very small or missing (microglossia/aglossia), and the ears are abnormally placed toward the middle of the neck or even fused under the chin (synotia). Many babies also have serious brain malformations, often a type called holoprosencephaly. Because the jaw and mouth help keep the airway open and allow breathing and feeding, most affected babies develop severe breathing problems immediately after birth. The condition is almost always fatal, with most pregnancies ending in miscarriage, stillbirth, or early neonatal death. Reported frequency is roughly 1 in 70,000 births (based on small case compilations). Prenatal ultrasound—sometimes with 3D imaging—can show the problem and allow counseling and delivery planning. Genetic studies suggest roles for OTX2 and PRRX1 in some cases, but a single, consistent cause has not been proven. PMC+1NCBIPubMed
Another names
Otocephaly is also called agnathia-otocephaly complex (AOC). “Agnathia” means no mandible. “Synotia” means the two ears are fused or abnormally close in the front of the neck. Some reports use melotia (ears displaced toward the cheeks) and microstomia (very small mouth) as related terms. When brain fusion problems are present, it may be called agnathia with holoprosencephaly. In older texts, it can appear under first branchial arch anomalies or mandibulofacial dysostosis spectrum, but AOC is the most precise modern term.
Types
Agnathia alone (milder end of the spectrum): the mandible is very small or absent, but the ears are not fused; airway problems vary.
Agnathia with synotia (classic otocephaly): the mandible is missing or tiny, and the ears sit close together or fused in front of the neck.
Agnathia with holoprosencephaly: severe facial and brain midline defects occur together; eyes may be very close together or sometimes fused (cyclopia).
Extended complex with additional organ defects: the craniofacial findings above plus other severe abnormalities (for example, heart, lung, or limb problems).
This “type” description is practical; it helps parents and clinicians discuss severity and plan care, but every baby is unique and sits somewhere on this spectrum.
Face building starts in weeks 4–6 of pregnancy. Cells from the first pharyngeal arch and neural crest move into the future face to make the mandible, tongue, and ears. Signals that guide left-right and midline development, including the Sonic Hedgehog (SHH) pathway and other early brain patterning cues, must work at the right time and in the right place. In otocephaly, these signals and cell movements are disturbed. The lower face fails to grow forward, the jaw does not form, and the ears migrate abnormally toward the midline. If midline brain signaling is also disturbed, holoprosencephaly can occur.
Causes
Gene changes in early face-forming pathways: Variants in genes that control midline and craniofacial growth (for example, genes in the SHH pathway or other head patterning genes) can interrupt jaw and ear development. Many cases are new (de novo) and not inherited.
Chromosome problems: Missing or extra pieces of DNA can disturb several face-forming genes at once. Some babies with agnathia-otocephaly have been reported with chromosomal imbalances.
Disruption of neural crest cell migration: Neural crest cells build the bones and cartilage of the face. If these cells do not reach the first arch on time, the mandible and ear canals do not form correctly.
Abnormal first pharyngeal arch signaling: The first arch makes the mandible, malleus, incus, and related structures. Errors in its signaling program can lead to severe jaw absence.
Early midline brain patterning errors: When the front of the brain does not split properly, the face also develops abnormally. This explains the strong link between otocephaly and holoprosencephaly.
Maternal pregestational diabetes (poorly controlled): High blood sugar in early pregnancy is a known risk for midline defects; it has been associated with severe craniofacial anomalies.
Retinoic acid exposure (excess vitamin A/retinoid drugs): High retinoic acid levels during the face-forming window can misdirect craniofacial development.
Alcohol exposure (heavy early pregnancy use): Alcohol is a teratogen that interferes with neural crest cells and midline signals; severe exposure can contribute to complex facial defects.
Anticonvulsant or other teratogenic medications: Some drugs have small but real risks for craniofacial defects if taken during weeks 4–6; decisions should always be clinician-guided.
Vascular disruption early in embryogenesis: If blood supply to the developing lower face is interrupted, growth may arrest, producing severe malformations.
Severe amniotic band sequence: Rarely, constricting bands can damage developing facial tissues and worsen jaw formation problems.
Intrauterine infections affecting early embryogenesis: Certain infections in very early pregnancy may disturb craniofacial development indirectly.
Environmental toxins and solvents: Occupational or environmental exposures at high levels during the critical window can increase risk.
Nutritional deficiencies (for example, folate deficiency): Poor periconceptional nutrition may raise the risk of midline defects; folate supports neural tube and craniofacial development.
Maternal hypervitaminosis A from supplements: Very high vitamin A intake acts like retinoid drugs and can be harmful to face development.
Monozygotic twinning complications: Early twinning can disturb midline signals and is associated with some severe craniofacial anomalies in case reports.
Unknown de novo developmental accident: In many families, no gene or exposure is found. A one-time developmental error likely happened during the short critical window.
Familial genetic predisposition (rare): Rare families may carry a variant that increases risk; inheritance is uncommon but possible.
Epigenetic dysregulation: Errors in the on/off switches of craniofacial genes (methylation and chromatin regulation) may contribute even when DNA sequence is normal.
Combined multifactorial cause: Often a mix of a sensitive genetic background plus a small environmental hit during weeks 4–6 leads to the condition.
Symptoms and signs
Absent or tiny lower jaw (agnathia/micrognathia): The chin is missing or very small; the lower face looks short and tucked under. This makes breathing and feeding hard.
Ears in the middle or front of the neck (synotia): The two ears sit too close together or even touch. Ear canals can be closed or misplaced.
Very small mouth or mouth almost closed (microstomia): The opening is narrow; placing a breathing tube or feeding tube can be difficult.
Tongue problems (glossoptosis or hypoglossia): The tongue sits back and blocks the airway, or the tongue is small or missing.
Airway blockage and breathing distress: Because the jaw and tongue do not support an open airway, the baby struggles to breathe at birth.
Feeding difficulty and poor weight gain: Sucking and swallowing are weak or unsafe; milk can go into the airway.
Abnormal nose or palate (cleft palate): The roof of the mouth may be open, making feeding and speech (if survival occurs) difficult.
Eye spacing problems (hypotelorism) or rarely cyclopia: When brain midline development is affected, the eyes may be very close, or in extreme cases merge.
Forebrain problems (holoprosencephaly): The front of the brain does not split; seizures, abnormal tone, and poor responses may occur.
Hearing impairment: Ear canal and middle ear malformations reduce hearing if a baby survives long enough for testing.
Neck and larynx anomalies: The voice box and windpipe can be small or misplaced, worsening airway obstruction.
Facial asymmetry: One side of the lower face may be more affected than the other.
Other organ malformations: Some babies have heart, lung, kidney, or limb defects as part of a wider pattern.
Poor responsiveness in severe cases: Severe brain involvement may reduce normal newborn reflexes and responses.
Life-threatening condition at birth: Many cases are incompatible with long-term survival because of combined airway and brain problems.
Diagnostic tests
A) Physical examination (bedside assessments)
Postnatal head and neck inspection: The clinician looks for a missing chin, small mouth, and ear position near the midline. This first look guides urgent airway steps.
Airway patency check: Gentle positioning and suctioning test whether the baby can move air. Immediate airway safety is the top priority.
Feeding and suck-swallow evaluation: A skilled nurse or speech-language pathologist checks if sucking is safe or if milk enters the airway.
Neurological newborn exam: Muscle tone, reflexes, and alertness are checked to look for brain involvement like holoprosencephaly.
Ophthalmologic bedside exam: The eye doctor checks spacing, movement, and front structures to identify midline eye problems.
B) “Manual” or functional bedside tests
Airway endoscopy (flexible laryngoscopy/bronchoscopy): A tiny camera evaluates nose, palate, tongue base, larynx, and trachea to plan airway support.
Oro-nasal passage patency testing: Simple catheter passage helps assess how narrow the nasal passages and mouth opening are.
Bedside hearing screen feasibility check: If the ear canals are closed, standard screens may fail; the team plans advanced testing accordingly.
Jaw and temporomandibular joint palpation: Gentle manual assessment looks for bony gaps or displacements that imaging will later define.
Feeding trial with thickened liquids under supervision: Very small, monitored attempts help gauge aspiration risk if the team believes it is safe.
C) Laboratory and pathological tests
Karyotype and chromosomal microarray: These tests look for extra or missing chromosome pieces that can cause complex craniofacial defects.
Targeted gene panel or exome sequencing: Sequencing searches for variants in craniofacial and midline genes when parents want genetic answers.
Maternal diabetes evaluation (HbA1c if not already known): Confirms an important risk factor and helps with counseling in current and future pregnancies.
Infection screening when indicated: If the timing of a maternal illness suggests early embryo exposure, TORCH or other tests may be considered.
Pathology examination in fatal cases: A careful autopsy clarifies the exact anatomy and the presence of brain and organ malformations, and can guide genetic testing.
D) Electrodiagnostic tests
Auditory brainstem response (ABR): If feasible, ABR checks hearing pathway function when ear canals or middle ears are abnormal.
Electroencephalogram (EEG): If seizures or severe brain involvement are suspected, EEG assesses brain electrical activity.
Cardiorespiratory monitoring: Continuous pulse oximetry and cardiorespiratory tracings track stability and detect apneas in airway-compromised babies.
E) Imaging tests
Prenatal ultrasound (2D and 3D): In the late first or early second trimester, ultrasound may show a tiny or absent mandible, abnormal ear position, and sometimes brain midline defects. 3D views improve face assessment.
Fetal or postnatal MRI and postnatal CT with 3D reconstruction: MRI defines the brain and soft tissues; CT maps bone anatomy of the mandible and skull base. Together they guide decisions about airway, feeding, and—rarely—reconstructive options.
Non-pharmacological “treatments
Important note: Otocephaly has no corrective therapy in the newborn period. Most of the items below are care plans or supports, not cures. Where a commonly requested therapy (e.g., “physiotherapy” or “mind-body”) does not apply, I state that clearly to keep this guide accurate.
A) Physiotherapy-type or hands-on care items
Airway preparedness and delivery simulation
Description (≈150 words): Before birth, a coordinated team (obstetrics, maternal-fetal medicine, neonatology, anesthesia, ENT/airway surgery) rehearses how to secure the baby’s airway at delivery. They review imaging, choose the delivery location (operating room), check availability of advanced devices (fiberoptic scopes, tracheostomy set), assign roles, and plan contingencies if intubation fails. This is not “therapy” for the baby’s structure but is the most important practical step to prevent immediate death.
Purpose: Maximize chances of establishing breathing safely.
Mechanism: Team readiness reduces delays and failed attempts.
Benefits: Shorter time to airway, clearer decisions about resuscitation vs comfort care. PMCGlen Atlas, M.D., M.Sc.Planned delivery with an airway team (possible EXIT considerations)
Description: Some centers consider an Ex-Utero Intrapartum Treatment (EXIT)-style approach in severe predicted airway obstruction to allow airway access while the baby remains on placental support. For otocephaly, feasibility is limited and highly center-specific; many cases are still not survivable.
Purpose: Provide time to secure an airway.
Mechanism: Placental gas exchange continues briefly during airway procedures.
Benefits: May improve controlled airway access in select scenarios; not universally applicable. PMCImmediate airway positioning and gentle support
Description: Neutral positioning, avoidance of excessive mask pressure (often ineffective with absent jaw), and early decision on invasive airway.
Purpose: Temporize until definitive plan.
Mechanism/Benefits: Minimizes trauma and delays. Glen Atlas, M.D., M.Sc.Early tracheostomy (when a survival path is chosen)
Description: Creating a surgical airway in the neck when intubation is not possible.
Purpose: Provide a stable airway for ventilation.
Mechanism: Bypasses malformed oral structures.
Benefits: Enables breathing and long-term ventilatory strategies in rare survivors. PubMedGastrostomy tube feeding
Description: Surgical feeding tube to the stomach when oral feeding is not possible.
Purpose: Long-term nutrition and growth in survivors.
Mechanism: Bypasses unsafe or impossible oral intake.
Benefits: Reliable nutrition route. PubMedOral hygiene and commissuroplasty care (in survivors)
Description: Mouth-corner reconstruction (commissuroplasty) and daily oral care to reduce infections and enable hygiene access.
Purpose: Hygiene, drooling control, preparation for later reconstructions.
Mechanism/Benefits: Improves access and function; may require repeats. PubMedNICU respiratory physiologic support
Description: Ventilator strategies tailored by neonatology for fragile lungs/airways after tracheostomy.
Purpose: Gas exchange.
Mechanism/Benefits: Optimized ventilation; reduces ventilator injury risk. Glen Atlas, M.D., M.Sc.Multidisciplinary case review and ethics consultation
Description: Structured meetings with parents about prognosis, goals of care (resuscitation vs comfort), cultural values, and likely outcomes.
Purpose: Align care with family wishes and medical reality.
Mechanism/Benefits: Informed, humane decisions; prevents non-beneficial interventions. Glen Atlas, M.D., M.Sc.Palliative (comfort-focused) care from birth
Description: When survival is not feasible, prioritize warmth, pain control, family bonding, and memory-making.
Purpose: Relieve suffering and support family.
Mechanism/Benefits: Evidence-based neonatal palliative practices improve family outcomes. PMCBreast-milk expression and human-milk nutrition planning
Description: Lactation support for expressed breast milk (given via tube if the baby survives) or donor milk programs.
Purpose: Optimal neonatal nutrition and immunity in survivors.
Mechanism/Benefits: Human milk benefits immunity and growth; route is enteral via tube. (General neonatal practice.)Family psychological counseling
Description: Professional counseling for grief, trauma, and complex decision-making, starting prenatally.
Purpose: Mental-health support.
Mechanism/Benefits: Reduces complicated grief and distress; supports bonding and coping. (General perinatal palliative evidence.)Genetic counseling
Description: Review of recurrence risk, discussion of genes (e.g., OTX2, PRRX1 in some cases), and future pregnancy planning.
Purpose: Inform reproductive choices.
Mechanism/Benefits: Clarifies uncertain risks; may guide testing in future pregnancies. PubMedPMCPrenatal imaging follow-up (US/MRI/3D)
Description: Serial assessments for growth, associated anomalies, and updated delivery planning.
Purpose: Refine prognosis and logistics.
Mechanism/Benefits: Better preparation; prevents last-minute surprises. PMCSocial work and practical supports
Description: Assistance with logistics, bereavement resources, and financial navigation.
Purpose/Benefits: Reduces family burden. (Standard perinatal care.)Long-term craniofacial surgical planning (only for rare survivors)
Description: In highly selected children who survive infancy with a secured airway and gastrostomy, staged mandibular reconstruction (costochondral rib grafts in early childhood; free fibula grafts later) and/or gradual distraction osteogenesis may be considered at specialty centers.
Purpose: Improve airway mechanics, oral function, facial projection.
Mechanism/Benefits: Skeletal reconstruction increases mandibular volume over time; outcomes vary and require years of care. PubMedResearchGate
Standard infant physiotherapy, occupational therapy feeding programs, and speech therapy presume an anatomically present jaw/tongue. In otocephaly, these structures are absent or nonfunctional; therapy cannot replace them. Any such services, if used, are supportive (positioning, secretion management in survivors), not corrective.
Mind-body, “gene therapy,” or educational therapies
Mind-body practices (parents)
Useful only to support parental stress and grief (breathing exercises, mindfulness). They do not alter fetal anatomy or neonatal survival.Gene therapy
No human gene therapy exists for otocephaly. Although OTX2/PRRX1 have been implicated, there is no clinical genetic treatment today. PubMedPMCEducational therapy (for the baby)
Not applicable in the perinatal period because most infants do not survive to stages where developmental services can be delivered. PMCBirth planning document and consent pathway – clear, written plan for resuscitation vs comfort.
Memory-making and bereavement care – photos, footprints, keepsakes.
Spiritual care (on request) – chaplaincy or equivalent.
Sibling/family preparation sessions – age-appropriate explanations and support.
Home-going palliative pathway (rare) – if a baby lives hours to days, consider home hospice.
Ethics committee availability – for difficult value conflicts.
Aftercare follow-up for parents – postpartum medical and mental-health check-ins.
Drug treatments
There is no medication that treats or reverses otocephaly. Using long lists of “drugs for otocephaly” would be misleading. In rare survivors, clinicians may use peri-operative and supportive medications tailored to that child’s needs. Neonatal dosing is highly specialized and cannot be safely given here. Below are examples of drug classes your clinical team may consider, with purposes/mechanisms/typical side effects (no doses provided for safety).
Analgesics (e.g., acetaminophen; opioids during/after surgery)
Purpose: pain control. Mechanism: central COX inhibition (acetaminophen); opioid receptor agonism (opioids). Side effects: liver toxicity at high doses; sedation/respiratory depression (opioids).Sedation/anxiolysis (e.g., midazolam, dexmedetomidine in NICU)
Purpose: tolerance of ventilation and procedures. Mechanisms: GABA-A agonism; α2-agonism. Side effects: hypotension, bradycardia, oversedation.Paralytics during airway surgery (e.g., rocuronium)
Purpose: muscle relaxation for safe procedures. Mechanism: neuromuscular blockade. Side effects: prolonged weakness if inadequately reversed.Antibiotics (peri-operative, tracheostomy/gastrostomy infection management)
Purpose: prevent/treat infections. Mechanism: pathogen-specific. Side effects: diarrhea, allergic reactions.Proton-pump inhibitor or H2 blocker
Purpose: reduce reflux and aspiration risk around feeding tubes. Mechanism: acid suppression. Side effects: altered microbiome, potential infections.Bronchodilators (as needed)
Purpose: airway reactivity management in ventilated survivors. Mechanism: β2-agonism. Side effects: tachycardia, tremor.Mucolytics and humidification protocols
Purpose: secretion control in tracheostomy care. Side effects: airway irritation.Diuretics (if heart/lung fluid balance issues)
Purpose: optimize ventilation. Mechanism: renal sodium excretion. Side effects: electrolyte loss.Steroids (short peri-operative courses)
Purpose: reduce airway edema after procedures. Side effects: hyperglycemia, infection risk.Antithrombotic prophylaxis (peri-operative in larger children)
Purpose: surgical free-flap patency (e.g., fibula flap). Risks: bleeding.Anti-emetics
Purpose: reduce post-op vomiting/aspiration risk. Side effects: QT prolongation (drug-specific).Topical oral care agents
Purpose: hygiene and infection prevention when mouth access is created. Side effects: local irritation.Vitamin D and iron (general nutrition in survivors)
Purpose: support growth and anemia prevention. Side effects: constipation (iron).Parenteral nutrition components (NICU)
Purpose: complete nutrition when enteral feeds not possible. Risks: line infections, cholestasis.Local anesthetics for procedures
Purpose: pain control at trach/G-tube sites. Side effects: toxicity if overdosed.
(Again, these are not otocephaly cures; they are supportive treatments individualized by clinicians.)
Dietary molecular supplements
There is no supplement that corrects the absent jaw or improves survival in otocephaly. For transparency, here is what may be relevant around the condition:
Human milk (expressed or donor) – immune and nutritional benefits in survivors fed via tube.
Standard neonatal formulas – used if human milk is unavailable.
Specialized high-calorie formulas – for growth in long-term survivors.
Micronutrients (iron, vitamin D) – routine neonatal needs as guided by clinicians.
Electrolyte/trace element supplementation – only if lab-confirmed deficits on parenteral nutrition.
6)–10) Not applicable: “Molecular” or “regenerative” supplements have no evidence in otocephaly; avoid claims of benefit.
Immunity booster / regenerative / stem-cell drugs
These do not exist for otocephaly. Stem cells or “immune boosters” cannot rebuild a missing mandible or airway. Any such claim is unproven and unsafe. (If you ever encounter such suggestions, ask for published, peer-reviewed evidence—none currently supports this for otocephaly.) NCBI
Surgeries
Emergency tracheostomy – surgical airway when oral intubation fails; lifesaving step in selected cases. PubMed
Gastrostomy tube placement – long-term feeding access. PubMed
Commissuroplasty – reconstructing the mouth corners to allow care, hygiene, and later procedures. PubMed
Mandibular reconstruction with costochondral rib graft (early childhood) – staged attempts to create mandibular framework; variable outcomes. PubMed
Mandibular free-fibula flap or distraction osteogenesis (later childhood/adolescence) – adds bone length/volume; considered only in rare long-term survivors at expert centers. PubMedResearchGate
Preventions
Because otocephaly is mostly sporadic and often linked to early embryonic patterning, specific prevention is not known. Practical prevention focuses on healthy pregnancy practices and future-pregnancy planning:
Preconception counseling—review family history; discuss rarity and uncertain recurrence risk with genetics. PubMed
Optimize maternal health—control diabetes, avoid teratogens (alcohol, certain drugs). (General prenatal advice.)
Folic acid—recommended for neural-tube prevention; no specific proof for otocephaly, but part of standard preconception care.
Medication review—avoid retinoic acid and other known teratogens unless medically essential.
Early prenatal care and first-trimester ultrasound—earlier recognition → better counseling. PMC
Targeted genetic testing if prior affected fetus/child—only in select families where a variant (e.g., OTX2) was documented. PMC
Specialist referral on abnormal screening—maternal-fetal medicine and fetal center involvement. PMC
Delivery at a tertiary center with pediatric airway and NICU teams. Glen Atlas, M.D., M.Sc.
Realistic birth plan—documented resuscitation vs comfort approach. Glen Atlas, M.D., M.Sc.
Post-event debrief and planning for future pregnancies—close with genetics and obstetrics. PubMed
When to see doctors
Before pregnancy or early in pregnancy: for preconception counseling and early ultrasound.
Immediately if an ultrasound suggests facial/jaw anomalies: to arrange fetal medicine and genetics review and begin delivery planning. PMC
During pregnancy: if you have concerns about exposures (e.g., medications, infections).
At delivery: when a plan calls for airway-capable facility and team on site. Glen Atlas, M.D., M.Sc.
After a loss: for bereavement care and evaluation of recurrence risk. PubMed
What to eat and what to avoid
Because infants with otocephaly usually cannot feed orally, “diet” applies to mothers during pregnancy and nutrition routes for survivors:
Eat (maternal): balanced prenatal diet; adequate protein; prenatal vitamins with folic acid; foods rich in iron and calcium; hydration.
Avoid (maternal): alcohol; illicit drugs; high-dose vitamin A/retinoids; non-prescribed supplements with unknown safety; undercooked meats/unpasteurized dairy (infection risk); smoking.
For survivors: feeding is by gastrostomy or parenteral nutrition as guided by clinicians; there is no special “jaw-growing” diet.
FAQs
Is otocephaly always lethal?
Nearly always. Most pregnancies end in loss or early neonatal death due to airway failure. Rare survivors require tracheostomy, tube feeding, and staged surgeries. NCBIPMCCan ultrasound detect it?
Yes—facial profile and 3D ultrasound can show absent jaw/abnormal ears; some cases are recognized only in the late second/third trimester. PMCWhat genes are involved?
Some cases link to OTX2 and PRRX1, but many have no identifiable variant; a single cause is not established. PubMedPMCIs there a cure or medicine?
No. There is no drug or supplement that corrects the anatomy. Care is supportive; in rare survivors, staged reconstruction is considered. PubMedDoes folic acid prevent otocephaly?
Folic acid is recommended for neural-tube prevention, but there’s no proof it prevents otocephaly specifically.What happens at birth?
An airway plan is crucial. Teams attempt intubation; if impossible and a survival path is chosen, tracheostomy may be performed. Many families choose comfort care. Glen Atlas, M.D., M.Sc.Can babies breastfeed?
No—oral feeding is not possible with absent mandible. Survivors receive gastrostomy or parenteral nutrition. PubMedWhat is synotia?
Abnormal ear position/fusion toward the front/midline under the chin—typical in otocephaly. PMCHow common is it?
Estimated around 1 in 70,000 births, but actual frequency is uncertain because many pregnancies end early. PMCAre there other organ problems?
Yes—brain (especially holoprosencephaly) and sometimes heart, skeletal, genitourinary, or situs anomalies. NCBICan EXIT save the baby?
EXIT may allow controlled airway access at select centers, but many otocephaly cases remain non-survivable due to the overall severity. PMCWhat does long-term reconstruction involve?
Decade-long craniofacial care with rib grafts in early years, later free-fibula grafts or distraction osteogenesis, and multiple revisions. PubMedResearchGateShould families get genetic testing?
Discuss with genetics. Testing may be informative especially if a variant (e.g., OTX2) was found in the affected fetus/child. PMCIs physiotherapy helpful?
Conventional infant therapy cannot replace a missing jaw/tongue. Supportive care (positioning, secretion management) may help survivors’ comfort/function.Where should delivery occur?
At a tertiary center with maternal-fetal medicine, neonatal airway experts, ENT, and NICU capacity. Glen Atlas, M.D., M.Sc.
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Last Updated: September 10, 2025.
Holoprosencephaly Agnathia
