Cicatricial Pemphigoid
Cicatricial pemphigoid is an autoimmune disease. “Autoimmune” means your immune system attacks your own body by mistake. In this disease, the attack happens at the basement membrane. This is the thin ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Benign Familial Infantile Epilepsy (BFIE)
Benign Familial Infantile Epilepsy (BFIE) is a genetic epilepsy syndrome where a baby who is otherwise healthy begins having seizures in the first year of life, most often between 3 and 12 months of ...
Autosomal Dominant Cortical Myoclonus and Epilepsy (ADCME)
Autosomal dominant cortical myoclonus and epilepsy (ADCME) is a rare, inherited brain disorder. “Autosomal dominant” means one changed gene from either parent can cause the condition. “Cortical” ...
Lethal Hydrocephalus–Cardiac Malformation–Dense Bones Syndrome
Lethal hydrocephalus–cardiac malformation–dense bones syndrome is a very rare, likely genetic condition seen before birth or at delivery. Babies have hydrocephalus (too much fluid inside the brain’s ...
Beemer-Ertbruggen Syndrome
Beemer-Ertbruggen syndrome is a lethal (life-limiting) pattern of birth differences first reported in two brothers from a consanguineous family. The children had hydrocephalus (too much fluid in the ...
Exomphalos–Macroglossia–Gigantism Syndrome
Exomphalos–Macroglossia–Gigantism Syndrome is an older name for Beckwith-Wiedemann syndrome (BWS). It is a congenital overgrowth condition. Babies are often large at birth. Many have a large tongue ...
Bathing Suit Ichthyosis (BSI)
Bathing suit ichthyosis is a rare, inherited skin condition. It belongs to a family of diseases called autosomal recessive congenital ichthyosis (ARCI). Most babies with this condition are born with ...
Basan Syndrome
Basan syndrome or “absence of fingerprints–congenital milia syndrome.” It is an extremely rare, autosomal-dominant ectodermal dysplasia caused by variants in SMARCAD1 and characterized by congenital ...
Absence of Fingerprints–Congenital Milia Syndrome
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 soles. Soon after birth, they also get ...
Absence of Dermatoglyphics–Congenital Milia Syndrome
Absence of dermatoglyphics–congenital milia syndrome is a very rare inherited skin condition where a baby is born without fingerprints (no dermatoglyphics), with tiny white cysts on the face (milia), ...
Basan Syndrome
Basan syndrome is a very rare, inherited skin condition. Babies are born without normal fingerprint ridges (adermatoglyphia). Soon after birth they may have small fluid-filled blisters on the hands ...
Classic Bartter Syndrome
Classic Bartter syndrome is a rare, lifelong, inherited kidney salt-wasting disorder. It mainly happens because a small protein channel in the kidney does not work properly. This channel normally ...
Bartsocas-Papas Syndrome 1 (BPS1)
Bartsocas-Papas syndrome 1 (BPS1) is a very rare, inherited birth condition. It mainly affects the skin and tissues that come from the outer layer of the embryo (the ectoderm). Babies with BPS1 are ...
X-linked Cardioskeletal Myopathy and Neutropenia
X-linked cardioskeletal myopathy and neutropenia is a rare, inherited disease that mainly affects boys. It harms the heart muscle (cardiomyopathy), skeletal muscles (weakness and low tone), and the ...
3-Methylglutaconic Aciduria Type 2
3-methylglutaconic aciduria type 2 is a rare, inherited condition that almost always affects boys. It is also called Barth syndrome. It happens because of a change (variant) in a gene on the X ...
Barth Syndrome
Barth syndrome is a rare genetic condition that mostly affects boys. It is caused by changes (mutations) in a gene called TAFAZZIN (TAZ) on the X chromosome. This gene helps make and repair a special ...
Bardet-Biedl Syndrome Caused by Mutation in the BBS9 Gene (BBS9-BBS)
Bardet-Biedl syndrome caused by mutation in the BBS9 gene (BBS9-BBS) is a rare, inherited disease that affects many organs. It happens because tiny hair-like parts of cells, called primary cilia, do ...
Bardet–Biedl Syndrome 9 (BBS9)
Bardet–Biedl syndrome 9 (BBS9) is a type of Bardet–Biedl syndrome (BBS) that happens when a child inherits harmful changes (pathogenic variants) in the BBS9 gene from both parents. The BBS9 gene ...
Bardet-Biedl Syndrome (BBS) Caused by Mutation in TTC8
Bardet-Biedl syndrome (BBS) caused by mutation in TTC8 is a rare, inherited condition that affects many body systems. It is a multisystem ciliopathy caused by biallelic pathogenic variants in TTC8 ...
Bardet–Biedl Syndrome 8 (BBS8, TTC8)
Bardet–Biedl syndrome 8 is one genetic form of Bardet–Biedl syndrome (BBS), a rare, inherited condition that affects many body systems because tiny “antennae” on cells—called primary cilia—do not ...
