Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: September 15, 2025View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

Differential Diagnosis for Dysmorphic Facial Features, Low Set Ear, Intellectual Disability, and Tall Face

Single Most Likely Diagnosis

  • Fragile X Syndrome: This is a genetic condition causing intellectual disability, behavioral and learning challenges, and various physical characteristics such as a long and narrow face, high-arched palate, and low-set ears. It is the most common cause of inherited intellectual disability.

Other Likely Diagnoses

  • Down Syndrome: Characterized by intellectual disability, distinctive facial features (which can include a flat face rather than a tall one, but there's variability), and low-set ears. While the facial features don't perfectly match, the combination of intellectual disability and dysmorphic features makes it a consideration.
  • Prader-Willi Syndrome: This genetic disorder causes a range of symptoms including intellectual disability, distinctive facial features, and short stature. Early infancy features can include a narrow forehead, almond-shaped eyes, and a thin upper lip, which might not directly align with "tall face" but warrants consideration due to the intellectual disability and potential for dysmorphic features.
  • Williams Syndrome: Known for its distinctive "elfin" facial features, intellectual disability, and friendly demeanor. Facial features can include a broad forehead, short nose, full cheeks, and a wide mouth, which might not directly match "tall face" but is a condition with significant dysmorphia and intellectual disability.

Do Not Miss Diagnoses

  • Congenital Hypothyroidism: If untreated, can lead to intellectual disability and has physical features that might include a broad, flat nose and puffy face, which doesn't directly match "tall face" but is crucial to diagnose early due to the potential for severe intellectual disability if left untreated.
  • Phenylketonuria (PKU): An inherited disorder that can cause intellectual disability if not treated. While it doesn't typically cause dysmorphic facial features, the severity of intellectual disability if untreated makes it a critical diagnosis not to miss.

Rare Diagnoses

  • Sotos Syndrome: A rare genetic disorder characterized by excessive physical growth during the first few years of life, distinctive facial features (which can include a long, narrow face), and intellectual disability. The facial features and intellectual disability align with the question, but its rarity makes it less likely.
  • Marfan Syndrome: Primarily known for its effects on the cardiovascular system, it can also cause intellectual disability in some cases and has distinctive physical features including a tall, slender build and facial features that might include a long face. However, the primary features are more related to the skeletal and cardiovascular systems.
  • Klinefelter Syndrome: Characterized by an extra X chromosome in males, leading to features such as tall stature, intellectual disability, and sometimes dysmorphic features, though these are not as pronounced or consistent as in other syndromes listed here.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.