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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
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 ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
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 ...
Syndromic X-linked intellectual disability, Börjeson–Forssman–Lehmann type (BFLS) is a rare, inherited condition that mainly affects the brain, hormones, ...
Intellectual disability–epilepsy–endocrine disorders syndrome (IDEES) means a person has three things together: Intellectual disability (ID): learning ...
Intellectual disability-epilepsy-endocrine disorders syndrome (BFLS) is a rare, inherited condition that mainly affects boys and sometimes girls. Children ...
Börjeson-Forssman-Lehmann syndrome—short name BFLS—is a rare genetic condition that mainly affects learning, growth, hormones, and body shape. It happens when ...
Encephalopathy–Intracerebral Calcification–Retinal Degeneration Syndrome is a rare group of disorders where the brain and the eyes are both affected. ...
Bone fragility-contractures-arterial rupture-hearing loss syndrome/BCARD syndrome is a very rare, inherited connective-tissue disease. “Connective tissue” is ...
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis (RFIE) type” is a very rare, severe bone-growth disorder seen in newborns and ...
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type is a severe genetic disorder that affects how bones grow before and after ...
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 ...
Oberklaid–Danks syndrome, which is the original/alternate name for Bohring–Opitz syndrome (BOS)—a very rare genetic condition first separated from “Opitz ...
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 ...
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 ...
Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome) is a rare inherited skin and connective-tissue condition that looks very similar to classic ...
Meige syndrome is a neurological movement disorder that affects the face. It happens when two problems occur together: (1) blepharospasm—involuntary blinking ...
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 ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition present from birth. It changes how the upper eyelids and the inner corners of ...
