Boylan-Dew-Greco Syndrome (BDGS)
Boylan-Dew-Greco syndrome (BDGS) also called congenital hypomyelination neuropathy with arthrogryposis multiplex congenita is a very rare congenital (present at birth) nerve disorder. The key ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Bowen-Hutterite Syndrome
Bowen-Hutterite syndrome is a very rare, inherited condition. It is most common in the Hutterite population of North America but can occur in any group. Babies are born very small. They have feeding ...
Bowen-Conradi Syndrome (BCS)
Bowen-Conradi syndrome (BCS) is a very rare, inherited condition that affects many parts of a baby’s body even before birth. Babies are usually very small in the womb and after delivery. They often ...
Bosley-Salih-Alorainy Syndrome (BSAS)
Bosley–Salih–Alorainy syndrome (BSAS) is a very rare genetic condition caused by harmful changes (mutations) in a single gene called HOXA1. Children with BSAS are usually born with trouble moving ...
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare, genetic neurodevelopmental condition. It is caused by a change (variant) in a gene called NR2F1. This gene helps control how the brain and eyes ...
Syndromic X-Linked Intellectual Disability, Börjeson–Forssman–Lehmann Type (BFLS)
Syndromic X-linked intellectual disability, Börjeson–Forssman–Lehmann type (BFLS) is a rare, inherited condition that mainly affects the brain, hormones, growth, and body shape. It is caused by ...
Intellectual Disability–Epilepsy–Endocrine Disorders Syndrome (IDEES)
Intellectual disability–epilepsy–endocrine disorders syndrome (IDEES) means a person has three things together: Intellectual disability (ID): learning and thinking skills are below average ...
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome (BFLS)
Intellectual disability-epilepsy-endocrine disorders syndrome (BFLS) is a rare, inherited condition that mainly affects boys and sometimes girls. Children usually have delayed development and ...
Börjeson-Forssman-Lehmann Syndrome (BFLS)
Börjeson-Forssman-Lehmann syndrome—short name BFLS—is a rare genetic condition that mainly affects learning, growth, hormones, and body shape. It happens when there is a disease-causing change (a ...
Encephalopathy–Intracerebral Calcification–Retinal Degeneration Syndrome
Encephalopathy–Intracerebral Calcification–Retinal Degeneration Syndrome is a rare group of disorders where the brain and the eyes are both affected. “Encephalopathy” means the brain does not work ...
Bone Fragility-Contractures-Arterial Rupture-Hearing Loss Syndrome
Bone fragility-contractures-arterial rupture-hearing loss syndrome/BCARD syndrome is a very rare, inherited connective-tissue disease. “Connective tissue” is the body’s scaffolding—the collagen-rich ...
Autosomal Recessive Lethal Chondrodysplasia, Round Femoral Inferior Epiphysis (RFIE) Type
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis (RFIE) type” is a very rare, severe bone-growth disorder seen in newborns and young infants. Babies have very short arms ...
Autosomal Recessive Lethal Chondrodysplasia, Round Femoral Inferior Epiphysis Type
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type is a severe genetic disorder that affects how bones grow before and after birth. Babies have very short arms and ...
Opitz Trigonocephaly-Like Syndrome
Opitz trigonocephaly-like syndrome describes a rare group of genetic conditions where a baby is born with a triangular forehead from early fusion of the metopic suture (the seam in the middle of the ...
Oberklaid–Danks Syndrome
Oberklaid–Danks syndrome, which is the original/alternate name for Bohring–Opitz syndrome (BOS)—a very rare genetic condition first separated from “Opitz C-like” presentations in the late 1990s and ...
BOS Syndrome
BOS syndrome—a very rare genetic (present at birth) condition, most often caused by new (de novo) changes in the ASXL1 gene. Children have a recognizable facial look and a typical bent-arm/bent-wrist ...
Bohring-Opitz Syndrome
Bohring-Opitz syndrome is a very rare genetic condition caused most often by a new (not inherited) change in the ASXL1 gene. Babies usually have trouble feeding and growing, a special body posture ...
Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome)
Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome) is a rare inherited skin and connective-tissue condition that looks very similar to classic pseudoxanthoma elasticum (PXE). People develop ...
Meige Syndrome
Meige syndrome is a neurological movement disorder that affects the face. It happens when two problems occur together: (1) blepharospasm—involuntary blinking or tight eye closure—and (2) ...
Blepharoptosis-Myopia-Ectopia Lentis Syndrome (BMEL)
Blepharoptosis-Myopia-Ectopia Lentis syndrome is a very rare, inherited eye problem. BMEL is a very rare genetic eye condition seen at birth. People have three key features together: droopy upper ...
