User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Servelle–Martorell Syndrome (SMS)
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Servelle–Martorell syndrome is a very rare birth-present (congenital) vascular condition in which abnormally enlarged, twisty superficial veins grow through an ...

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Phlebectatic Osteohypoplastic Angiodysplasia
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Phlebectatic osteohypoplastic angiodysplasia—much better known to clinicians as Servelle–Martorell syndrome (SMS)—is a rare, congenital venous malformation ...

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Angio Osteohypotrophic Syndrome
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Angio-osteohypotrophic syndrome (Servelle–Martorell syndrome) is a very rare, congenital (present at birth) vascular anomaly. The core problem is a network of ...

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Klippel-Trenaunay-Weber Syndrome
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Klippel-Trénaunay syndrome (KTS) involves slow-flow capillary-venous-lymphatic malformations (no fast-flow arteriovenous shunts), while Parkes Weber syndrome ...

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Klippel-Trenaunay Syndrome
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Klippel-Trenaunay syndrome is a rare condition present at birth in which some blood vessels (tiny capillaries and larger veins) and sometimes lymph vessels do ...

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Haemangiectatic Hypertrophy
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Haemangiectatic hypertrophy is an old umbrella term doctors used for limb or body-part overgrowth caused by congenital (present at birth) vascular ...

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Angio Osteohypertrophic Syndrome
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Angio-osteohypertrophic syndrome is a congenital (present at birth) condition where some blood and lymph vessels do not form normally. The skin often shows a ...

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Types Of Angioma Serpiginosum
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Angioma serpiginosum is a benign skin condition in which tiny surface blood vessels (capillaries) in the upper layer of the skin become abnormally widened and ...

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Angioma Serpiginosum
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Angioma serpiginosum is a rare, harmless skin condition caused by tiny, surface-level blood vessels that are widened and bunched together. On the skin it looks ...

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Types T-Cell Lymphomas
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T-cell lymphomas are cancers that start from mature (“peripheral”) T lymphocytes. They are uncommon compared with B-cell lymphomas and include many subtypes ...

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Lymphogranulomatosis X
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Lymphogranulomatosis X (LgX) was an older clinicopathologic label used in the 1970s–1980s for a syndrome that overlapped with “immunoblastic lymphadenopathy” ...

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Immunoblastic Lymphadenopathy
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Immunoblastic lymphadenopathy is an older name doctors used for a disorder that causes swollen lymph nodes, fever, rashes, and abnormal blood proteins. With ...

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Angioimmunoblastic Lymphadenopathy with Dysproteinemia
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Angioimmunoblastic lymphadenopathy with dysproteinemia is the historical name for what we now call angioimmunoblastic T-cell lymphoma (AITL), grouped in the ...

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Angioimmunoblastic T-Cell Lymphoma (AITL)
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Angioimmunoblastic T-cell lymphoma (AITL) is a fast-growing blood cancer of immune cells called T-follicular helper (TFH) cells. These cells normally live in ...

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Angioimmunoblastic T-cell Lymphoma (AITL)
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Angioimmunoblastic T-cell lymphoma—today grouped under nodal T-follicular helper (TFH) cell lymphomas, angioimmunoblastic-type—is a fast-growing (aggressive) ...

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Angel-Shaped Phalango-Epiphyseal Dysplasia (ASPED)
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Angel-shaped phalango-epiphyseal dysplasia is a very rare, inherited bone growth condition. It mainly affects the small bones of the fingers. On hand X-rays, ...

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Aneurysm Intracranial Berry (Saccular Cerebral Aneurysm)
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Saccular aneurysm; berry aneurysm; cerebral (intracranial) aneurysm; saccular intracranial aneurysm; aneurysmal subarachnoid hemorrhage (when it ruptures, ...

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Loeys-Dietz Syndrome Type 3
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Loeys-Dietz syndrome type 3 is a genetic connective-tissue condition caused by a change (pathogenic variant) in a gene called SMAD3. Connective tissue is the ...

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Aneurysm Osteoarthritis Syndrome (AOS)
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Aneurysm-osteoarthritis syndrome is a rare, inherited connective-tissue disorder. It mainly causes bulging (aneurysms), stretching (tortuosity), or tearing ...

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Aneurysm of the Sinus of Valsalva (SOVA)
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A sinus of Valsalva aneurysm (SOVA) is a bulge in one of the three pouches at the root of the aorta (the big artery leaving the heart), just above the aortic ...

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