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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal dominant cortical myoclonus and epilepsy (ADCME) is a rare, inherited brain disorder. “Autosomal dominant” means one changed gene from either parent ...
Lethal hydrocephalus–cardiac malformation–dense bones syndrome is a very rare, likely genetic condition seen before birth or at delivery. Babies have ...
Beemer-Ertbruggen syndrome is a lethal (life-limiting) pattern of birth differences first reported in two brothers from a consanguineous family. The children ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Exomphalos–Macroglossia–Gigantism Syndrome is an older name for Beckwith-Wiedemann syndrome (BWS). It is a congenital overgrowth condition. Babies are often ...
Bathing suit ichthyosis is a rare, inherited skin condition. It belongs to a family of diseases called autosomal recessive congenital ichthyosis (ARCI). Most ...
Basan syndrome or “absence of fingerprints–congenital milia syndrome.” It is an extremely rare, autosomal-dominant ectodermal dysplasia caused by variants in ...
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 ...
Absence of dermatoglyphics–congenital milia syndrome is a very rare inherited skin condition where a baby is born without fingerprints (no dermatoglyphics), ...
Basan syndrome is a very rare, inherited skin condition. Babies are born without normal fingerprint ridges (adermatoglyphia). Soon after birth they may have ...
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 ...
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 ...
X-linked cardioskeletal myopathy and neutropenia is a rare, inherited disease that mainly affects boys. It harms the heart muscle (cardiomyopathy), skeletal ...
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 ...
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. ...
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 ...
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 ...
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 ...
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” ...
Bardet-Biedl syndrome 7 (BBS7) is a genetic condition that affects many organs. It belongs to a group of disorders called ciliopathies. In ciliopathies, tiny ...
