Arrhinia means a baby is born without a nose. This can range from the near-total absence of the outside nose to complete absence of both the outside nose and ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, inherited brain chemistry disorder. The body cannot properly make the “monoamine” messenger ...
Hereditary prepubertal gynecomastia means a boy develops true breast tissue before normal puberty because of an inherited (genetic) reason. The breast tissue ...
Gynecomastia means a benign (non-cancer) growth of true breast gland tissue in a boy or a man. It happens when the balance between estrogen (which stimulates ...
Familial hyperestrogenism is a rare inherited condition where the body makes too much estrogen, even when it should not. The main reason is that an enzyme ...
Aromatase Excess Syndrome (AEXS) is a rare, usually autosomal-dominant genetic condition where the body makes too much aromatase—the enzyme that turns ...
Turner syndrome (TS) is a genetic condition that only affects people who are born with a female body. It happens when all or part of one X chromosome is ...
Congenital hypogonadotropic hypogonadism (CHH) is a lifelong condition present from birth in which the brain does not make, release, or properly signal with ...
Estrogen insensitivity syndrome (EIS) is a very rare genetic condition where the body makes estrogen, but the body’s cells cannot “hear” estrogen’s message ...
Congenital estrogen deficiency means a person is born with a problem that keeps the body from making enough estrogen or from responding to estrogen normally. ...
Aromatase deficiency is a very rare, inherited condition caused by changes (mutations) in the CYP19A1 gene. The gene makes the enzyme aromatase, which converts ...
“Arnold-Stickler-Bourne syndrome” is the name historically used for a proposed, extremely rare syndrome seen in one published patient who had a triad of ...
Armfield type mental retardation syndrome is a rare, X-linked recessive neurodevelopmental disorder marked by global developmental delay/intellectual ...
X-linked recessive intellectual disability syndrome (often shortened to XLID) is a group of genetic conditions that mainly affect boys and cause problems with ...
Intellectual developmental disorder (IDD) is a neurodevelopmental condition that starts in childhood. A person has big difficulties with learning, reasoning, ...
Armfield X-linked intellectual disability syndrome is a very rare genetic condition that mainly affects boys. It causes lifelong learning problems ...
Armfield syndrome—also called X-linked intellectual disability, Armfield type—is a rare genetic condition that mainly affects boys. It causes global ...
Argininosuccinic acid lyase deficiency (also called argininosuccinic aciduria) is a rare, inherited disorder of the urea cycle, the body’s pathway for clearing ...
ASL deficiency is a rare inherited condition of the urea cycle—the body’s “nitrogen disposal” system. In healthy people, the urea cycle turns toxic ammonia ...
Argininosuccinase deficiency (also called argininosuccinic aciduria, ASA) is a rare, inherited urea-cycle disorder. The urea cycle is the body’s main way to ...
