Differential Diagnosis for Syndrome with Synophorous and Low Set Ears

• Single Most Likely Diagnosis
  • Noonan Syndrome: This genetic disorder is characterized by unusual facial features, including low-set ears and webbed neck, which could be described as synophorous (having a webbed or connected appearance). It also involves heart defects, short stature, and other physical and developmental challenges.
• Other Likely Diagnoses
  • Turner Syndrome: Although primarily known for affecting females, with features like short stature and ovarian failure, some individuals with Turner Syndrome may exhibit low-set ears and other facial abnormalities.
  • Fragile X Syndrome: The most common cause of inherited intellectual disability, Fragile X Syndrome can include physical features such as a long face, large ears (which might be perceived as low-set in some cases), and other distinctive facial characteristics.
• Do Not Miss Diagnoses
  • CHARGE Syndrome: Characterized by Coloboma, Heart defect, Atresia choanae, Restricted growth and development, Genital abnormality, and Ear abnormality, this syndrome can present with low-set ears and other significant health issues that require early intervention.
  • Trisomy 13 (Patau Syndrome) and Trisomy 18 (Edwards Syndrome): Both are chromosomal disorders with severe intellectual disability and physical abnormalities, including low-set ears. Early diagnosis is crucial for managing the condition and providing appropriate care.
• Rare Diagnoses
  • Wildervanck Syndrome: A rare condition involving Klippel-Feil anomaly (fusion of two or more cervical vertebrae), hearing loss, and other abnormalities, which might include low-set ears in some cases.
  • MURCS Association: Characterized by Müllerian duct aplasia, renal aplasia, and cervicothoracic somite anomalies, this condition can sometimes present with ear abnormalities, although it is less commonly associated with the specific features mentioned.