choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.

What is choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?

choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Bilateral conductive hearing impairmentConductive hearing impairmentFacial palsyGastroesophageal refluxMixed hearing impairmentProgressive sensorineural hearing impairmentProlonged neonatal jaundiceSevere sensorineural hearing impairment

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.