User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Beare–Stevenson Cutis Gyrata Syndrome
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Beare–Stevenson cutis gyrata syndrome (often shortened to “Beare–Stevenson syndrome” or “BSS”) is a very rare genetic condition. Babies are born with ...

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Bathing Suit Ichthyosis (BSI)
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Bathing suit ichthyosis is a rare, inherited skin condition. It belongs to a family of diseases called autosomal recessive congenital ichthyosis (ARCI). Most ...

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Basilar Artery Migraine with Brainstem Aura
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Migraine with brainstem aura is a kind of migraine where the warning signs (called aura) come from the brainstem—the deep part of the brain that helps control ...

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Basilar Migraine (Migraine with Brainstem Aura)
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Basilar migraine is the older name for migraine with brainstem aura. It is a migraine in which the “warning phase” (the aura) comes from the brainstem—an area ...

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Basan–Baird Syndrome
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Basan–Baird syndrome is a very rare genetic skin condition present from birth. Babies are born with no fingerprints or toeprints (a finding called ...

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Basan Syndrome
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Basan syndrome or “absence of fingerprints–congenital milia syndrome.” It is an extremely rare, autosomal-dominant ectodermal dysplasia caused by variants in ...

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Absence of Fingerprints–Congenital Milia Syndrome
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Absence of fingerprints–congenital milia syndrome is a very rare genetic skin condition. Babies are born with no fingerprints on their fingers, palms, toes, or ...

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Absence of Dermatoglyphics–Congenital Milia Syndrome
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Absence of dermatoglyphics–congenital milia syndrome is a very rare inherited skin condition where a baby is born without fingerprints (no dermatoglyphics), ...

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Basan Syndrome
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Basan syndrome is a very rare, inherited skin condition. Babies are born without normal fingerprint ridges (adermatoglyphia). Soon after birth they may have ...

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Basal Ganglia Calcification, Idiopathic, Childhood-Onset
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Basal ganglia calcification, idiopathic, childhood-onset means calcium-like deposits build up inside deep brain areas called the basal ganglia (and sometimes ...

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Basal Cell Carcinoma with Follicular Differentiation (BCC-FD)
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Basal cell carcinoma with follicular differentiation (BCC-FD) is a special pathologic variant of basal cell carcinoma (the most common skin cancer). In this ...

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Infantile (Antenatal) Bartter Syndrome with Sensorineural Deafness
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Infantile Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that starts before birth. Babies lose too much salt ...

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Bartter Syndrome with Sensorineural Hearing Loss (Type IV)
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Bartter syndrome with sensorineural hearing loss (type IV) is a rare, inherited kidney salt-wasting disorder that begins before or soon after birth. The ...

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Bartter Syndrome with Sensorineural Deafness (Type 4)
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Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that also causes permanent hearing loss. The kidney problem ...

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Bartter Syndrome Type 4
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Bartter syndrome type 4 is a rare, inherited kidney tubule disorder. The kidney cannot reabsorb enough salt in a specific segment of the nephron (the thick ...

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Salt-Losing Tubular Disorder
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Salt-losing tubular disorder (often called salt-losing nephropathy) means the kidneys’ tiny tubes (tubules) cannot reabsorb enough salt (mainly sodium and ...

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Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria
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Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria is a salt-wasting kidney tubule disorder. The kidney’s thick ascending limb of the loop of ...

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Bartter Syndrome with Hypercalciuria and Nephrocalcinosis
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Bartter syndrome with hypercalciuria and nephrocalcinosis is a rare, inherited kidney salt-wasting disorder. The problem lives in the “thick ascending limb” of ...

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Aldosteronism with Hyperplasia of the Adrenal Cortex
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Aldosteronism with hyperplasia of the adrenal cortex means your adrenal glands (small glands that sit on top of the kidneys) have grown more cells than normal ...

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Bartter Syndrome
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Bartter syndrome is a group of rare, inherited kidney tubule disorders. The problem happens in a part of the kidney called the thick ascending limb of the loop ...

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