Underdevelopment of the pancreas can surface as neonatal diabetes or exocrine insufficiency; ultrasound, MRI, blood work and gene analysis each contribute to a diagnosis.
Tremor, rigidity, bradykinesia and postural instability define this group of disorders, assessed with clinical exams, MRI or PET imaging and genetic testing.
Palpitations, breathlessness and fatigue can signal PAF, an intermittent irregular heartbeat found on ECG, with genetic risk scores used to assess susceptibility.
Underdevelopment of the brain's largest white matter connection can bring cognitive, motor and social difficulties; MRI and genetic testing clarify the cause.
Extra fingers or toes, often fused together, define polysyndactyly. Examination and X-rays establish the diagnosis, and DNA analysis can support prenatal screening.
Involuntary shaking while holding a position, postural tremor can accompany Parkinson's disease, essential tremor or multiple sclerosis, so exams help sort the causes.
No periods by age 16 can trace back to Turner syndrome or to mutations in INHA and PCSK1; karyotyping and targeted gene tests, with their limits, are described.
Blocked drainage channels raise intraocular pressure and can damage the optic nerve; variants including TGFB2 rs991967 have been linked to higher POAG risk.