Differential Diagnosis for Hypoplastic Radial Side Forearm with ASD
Single Most Likely Diagnosis
- Holt-Oram Syndrome: This genetic disorder is characterized by upper limb abnormalities, including hypoplastic radial side forearm, and congenital heart defects such as atrial septal defect (ASD). The combination of these two features makes Holt-Oram Syndrome a strong candidate for the single most likely diagnosis.
Other Likely Diagnoses
- VACTERL Association: This association includes a range of congenital anomalies (Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities). The presence of hypoplastic radial side forearm and ASD could be part of this broader spectrum of anomalies.
- Fanconi Anemia: A genetic disorder that can lead to congenital abnormalities, including radial aplasia or hypoplasia, and an increased risk of congenital heart defects. While it's more commonly associated with other features like pancytopenia, its consideration is warranted due to the overlap of symptoms.
Do Not Miss Diagnoses
- Thrombocytopenia-Absent Radius (TAR) Syndrome: Although less common, TAR syndrome is critical to consider due to its potential for significant morbidity, particularly related to bleeding complications. The absence or hypoplasia of the radius is a key feature, and while ASD is not a primary association, the severity of TAR syndrome warrants its inclusion as a "do not miss" diagnosis.
- Roberts Syndrome: Characterized by limb reduction defects and other congenital anomalies, including potential cardiac defects. Its severity and the importance of early recognition for management make it a critical consideration.
Rare Diagnoses
- Bilateral Absence of Radius and Ulna with Congenital Heart Defect: This is an extremely rare condition but could be considered if the presentation includes severe limb abnormalities and ASD.
- Other rare genetic syndromes that might involve limb abnormalities and congenital heart defects, such as Cornelia de Lange Syndrome or Aase Syndrome, though these are less directly associated with the specific combination of hypoplastic radial side forearm and ASD.