Rare syndromes
24 entries in the Rare Syndromes compendium.
ABCD syndromeA rare genetic disorder now classified as Shah-Waardenburg type IV.Achondrogenesis type 2Fatal skeletal dysplasia caused by COL2A1 mutations.ADULT syndromeRare genetic disorder from TP63 mutation, distinct from EEC syndrome.Acrorenal mandibular syndromeExtremely rare syndrome with skeletal and renal anomalies.Adenosine deaminase 2 deficiencyA monogenic disease with systemic inflammation and variable organ involvement.ADNP syndromeA neurodevelopmental disorder from ADNP gene mutations.Aicardi syndromeRare genetic syndrome with brain, eye, and seizure abnormalities.Al-Gazali-Donnai-Mueller syndromeRare deadly genetic disorder featuring Hirschsprung's disease and dysmorphic features.Alagille syndromeGenetic disorder affecting liver, heart, and other organs.Alport syndromeA genetic disorder affecting kidneys, ears, and eyes.Angelman syndromeRare genetic disorder causing severe developmental and neurological impairments.Apparent mineralocorticoid excess syndromeRare genetic disorder causing hypertension via cortisol mineralocorticoid receptor activation.ATR-16 syndromeRare chromosomal deletion causing blood disorder and intellectual disability.Auto-brewery syndromeA rare condition where the gut produces alcohol internally.Autoimmune polyendocrine syndromeRare diseases with autoimmune attack on multiple endocrine organs.Bannayan–Riley–Ruvalcaba syndromeRare overgrowth syndrome linked to PTEN gene mutation.Barakat syndromeRare genetic disorder with hypoparathyroidism, deafness, and kidney disease.Bardet–Biedl syndromeA ciliopathic genetic disorder affecting multiple body systems.Barraquer–Simons syndromeRare lipodystrophy affecting head and thorax.Barth syndromeX-linked disorder causing cardiomyopathy, neutropenia, and metabolic abnormalities.Bartter syndromeRare inherited kidney disorder causing electrolyte imbalances.Beckwith–Wiedemann syndromeOvergrowth disorder with elevated childhood cancer risk.Behr syndromeRare disorder linking optic atrophy with spinocerebellar degeneration.Bernard–Soulier syndromeRare bleeding disorder with giant platelets and defective adhesion.
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