Differential Diagnosis for Retracted Jaw, Hypoplastic External Ear, and Tracheoesophageal Fistula in a Neonate

Single Most Likely Diagnosis

• Pierre Robin Sequence/Complex: This condition is characterized by a triad of micrognathia (retracted jaw), glossoptosis (tongue displacement), and upper airway obstruction, often accompanied by cleft palate. The presence of a tracheoesophageal fistula and hypoplastic external ear can be associated findings in more complex syndromic cases.

Other Likely Diagnoses

• Treacher Collins Syndrome: An autosomal dominant disorder of craniofacial development characterized by hypoplasia of the zygomatic complex, microtia (hypoplastic external ear), and other facial anomalies. It can also include cleft palate and other airway abnormalities.
• Hemifacial Microsomia: A condition that affects the development of the lower half of the face, often resulting in asymmetry. It can include microtia, mandibular hypoplasia (retracted jaw), and other craniofacial anomalies.
• CHARGE Syndrome: A complex genetic disorder that includes a range of physical and developmental abnormalities, such as coloboma, heart defects, choanal atresia, restricted growth and development, genital abnormalities, and ear anomalies. Tracheoesophageal fistula and craniofacial abnormalities can also be part of the syndrome.

Do Not Miss Diagnoses

• Stickler Syndrome: An autosomal dominant condition characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. While less common, it can include significant craniofacial anomalies and airway issues.
• Goldenhar Syndrome: Also known as oculo-auriculo-vertebral (OAV) spectrum, it involves malformations of the eye, ear, and spine. Craniofacial anomalies, including microtia and mandibular hypoplasia, can be part of the syndrome.

Rare Diagnoses

• Nager Syndrome: A rare genetic disorder characterized by underdeveloped cheeks and lower jaw (mandibular hypoplasia), along with underdeveloped or missing thumbs and radial aplasia. It can also include external ear anomalies and other craniofacial abnormalities.
• Miller Syndrome: Another rare condition, also known as postaxial acrofacial dysostosis, characterized by underdevelopment of the jaw and limbs, along with external ear anomalies. It is a very rare diagnosis but should be considered in the differential for neonates with significant craniofacial and limb abnormalities.