Acid lipase deficiency causes high LDL, liver enlargement and early heart disease; see symptoms, diagnosis and enzyme therapy....
Rare Diseases
Lesch‑Nyhan syndrome causes uric‑acid buildup, neurologic issues, and self‑injury; learn symptoms, diagnosis, and care tips....
Find key cerebellar hypoplasia causes, how they affect symptoms, and the best treatment and support options for families....
Identify holoprosencephaly symptoms—facial anomalies, delayed milestones, seizures, and hormonal signs—to get care fast....
Identify adrenoleukodystrophy symptoms—vision loss, behavior changes, adrenal fatigue—to get fast diagnosis and treatment....
Myotonic dystrophy overview covering types, symptoms, diagnosis and treatment options, plus latest research and care tips....
Zellweger syndrome is a rare peroxisomal disorder with neonatal symptoms, organ failure and short survival; learn diagnosis, care....
Refsum disease causes vision loss, anosmia and neuropathy; early testing and a low‑phytanic diet can halt damage and improve life....
Trusted guide on congenital muscular dystrophy: spot early signs, understand diagnosis, and learn care strategies for your child....
Netherton syndrome overview: quick guide to symptoms, diagnosis, treatment options and long‑term outlook for patients of all ages....
Zolgensma dosage is a one‑time 1.1 × 10¹⁴ vg/kg IV infusion followed by a steroid course and regular lab monitoring to protect liver health....
Guide to facioscapulohumeral muscular dystrophy covering symptoms, diagnosis steps, management tips, and research updates....
Von Hippel-Lindau syndrome creates tumors in brain, eyes, kidneys and more; testing and imaging protect vision, hearing, health....
Birt-Hogg-Dubé syndrome causes skin bumps, lung cysts, and kidney tumors. Learn signs, testing, and monitoring for proper care....
Find essential insights on rare growth disorders, from symptoms to treatments, and learn how early detection can change lives....
Absence of septum pellucidum often shows no symptoms; learning its causes, diagnosis and options helps families feel confident....
Spinal bulbar muscular atrophy (SBMA) affects motor neurons and muscles. Learn about symptoms, diagnosis, and managing SBMA effectively....
Learn about Russell-Silver Syndrome symptoms, diagnosis, treatment options, and how families can find support and hope....
Learn what to expect with a PROS outlook and how early intervention improves outcomes for children with PIK3CA-related overgrowth....
Find effective PROS treatment options for managing PIK3CA-related overgrowth. Targeted therapies, surgery, and holistic care can improve quality of life....
PROS genetic condition causes overgrowth in body parts. Learn the signs, types, and care options for PIK3CA-related overgrowth spectrum....
Learn how to manage your Gomekli dosage effectively for NF1 tumors. Get dosing tips, side effects, and treatment success strategies....
Gerstmann-Sträussler-Scheinker syndrome is a rare inherited brain disorder caused by prion protein mutations. Learn about symptoms, diagnosis, and treatment options....
Learn how Gammagard Liquid supports immune health through IV or subcutaneous treatment for immunodeficiency and more....
