Differential Diagnosis for Pitt Hopkins Syndrome
Single Most Likely Diagnosis
- Pitt Hopkins Syndrome: Characterized by distinct facial features, developmental delays, and intellectual disability, often accompanied by breathing difficulties and seizures. The clinical presentation and genetic testing (TCF4 gene mutation) can confirm this diagnosis.
Other Likely Diagnoses
- Angelman Syndrome: Presents with developmental delays, intellectual disability, and seizures, but typically has a happier demeanor and distinct facial features. Genetic testing for UBE3A gene mutations can differentiate it from Pitt Hopkins.
- Rett Syndrome: Primarily affects females, characterized by intellectual disability, loss of speech, and stereotypic hand movements. MECP2 gene mutations are diagnostic.
- Mowat-Wilson Syndrome: Features include intellectual disability, distinctive facial features, and congenital anomalies. Mutations in the ZEB2 gene are diagnostic.
Do Not Miss Diagnoses
- Prader-Willi Syndrome: Characterized by obesity, short stature, and intellectual disability. Hypotonia and feeding difficulties in infancy are key. Genetic testing for deletions on chromosome 15 can confirm the diagnosis.
- Smith-Magenis Syndrome: Presents with intellectual disability, distinctive facial features, and behavioral problems. Deletions on chromosome 17 are diagnostic.
Rare Diagnoses
- Kabuki Syndrome: Characterized by distinctive facial features, intellectual disability, and various congenital anomalies. Mutations in KMT2D or KDM6A genes are diagnostic.
- Williams Syndrome: Features include intellectual disability, distinctive "elfin" facial features, and a friendly demeanor. Deletions on chromosome 7 are diagnostic.
- Phelan-McDermid Syndrome: Presents with intellectual disability, absent or delayed speech, and various physical anomalies. Deletions on chromosome 22 are diagnostic.