Kosztolányi syndrome (also called Arachnodactyly–Abnormal Ossification–Intellectual Disability syndrome) is a very rare genetic condition first described in ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Arachnodactyly-abnormal ossification-intellectual disability syndrome is an ultra-rare, congenital (present at birth) condition. Children have very long, ...
Ulick syndrome—better known today as Apparent Mineralocorticoid Excess (AME)—is a rare, inherited condition where the kidneys are “tricked” into acting like ...
Cortisone reductase deficiency (CRD) is a rare genetic condition where the body cannot properly reactivate cortisone into cortisol inside cells. Normally, an ...
Apparent mineralocorticoid excess (AME) is a rare, usually childhood-onset condition where the body acts as if it has too much aldosterone (the salt-retaining ...
11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain ...
Congenital absence of the foot means a baby is born without the entire foot and ankle on one or both legs. On X-ray there are no bones below the tibia or ...
Apodia means a baby is born without a foot and ankle. In apodia, there are no bones past the lower-leg bones (the tibia and fibula). The lower leg itself is ...
Gershoni-Baruch-Leibo syndrome is an ultra-rare, inherited disorder in which a baby is born with a small area on the scalp where skin did not fully form ...
Aplasia cutis–myopia syndrome is an extremely rare genetic condition that links a birth defect of the skin with serious eye problems. Babies are born with a ...
Bronspiegel–Zelnick syndrome is another name for aplasia cutis congenita–intestinal lymphangiectasia syndrome. Babies are born with aplasia cutis congenita ...
Aplasia cutis congenita–intestinal lymphangiectasia (ACC-IL) syndrome is an extremely rare inherited disorder seen at birth. This is a very rare association ...
Aplasia Cutis Congenita (ACC) with Autosomal Recessive Disease means a baby is born with a patch where skin did not form. It is present at birth. The patch may ...
Aphonia–hearing loss–retinal dystrophy–duplicated (bifid) halluces–intellectual disability syndrome is an extremely rare genetic syndrome that affects several ...
Aphonia–deafness–retinal dystrophy–bifid halluces–intellectual disability syndrome is an extremely rare, genetic condition that affects many parts of the body ...
Aphalangy-Syndactyly-Microcephaly (ASM) syndrome is an ultra-rare genetic condition that mainly affects the hands, feet, and head size. “Aphalangy” means some ...
Aphalangy–Hemivertebrae–Urogenital–Intestinal Dysgenesis (A/H/U/I dysgenesis)—also called Johnson–Munson syndrome is an extremely rare birth condition. It was ...
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare birth disorder. Children are born with missing or very small finger and ...
Type I acrocephalosyndactyly—better known as Apert syndrome—is a rare, inherited condition that affects how the skull, face, hands, and feet grow. In Apert ...
Anti-Jo-1 syndrome is an autoimmune condition. Your immune system makes a specific autoantibody called anti-Jo-1 that targets an enzyme in your cells ...
