Amniotic constriction ring syndrome (ACRS)—also called amniotic band syndrome (ABS)—is a birth condition. During pregnancy, the thin inner layer of the sac ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Amniotic constriction band syndrome (ABS) is a birth condition that happens during pregnancy. Thin, string-like bands from the inner lining of the amniotic sac ...
Amniotic band syndrome is a birth condition that happens when thin, string-like fibers from the inner lining of the pregnancy sac (the amnion) come loose and ...
Thiamine Metabolism Dysfunction Syndrome type 4 (THMD4) is a very rare, inherited nerve and brain energy disorder. It happens when both copies of a gene called ...
Amish lethal microcephaly is a very rare, inherited brain disorder found mainly in certain Old Order Amish communities. Babies are born with a very small head ...
N-acyl-L-amino acid amidohydrolase deficiency is a very rare, inherited metabolic condition. The body makes a protein (an enzyme) called aminoacylase-1. This ...
Aminoacylase-1 deficiency is a very rare inherited metabolic condition. In this disorder, the body’s enzyme called aminoacylase-1 does not work well. This ...
Ameloonychohypohidrotic syndrome is an extremely rare condition that affects structures that come from the body’s outer layer (the ectoderm)—especially tooth ...
KLK4 amelogenesis imperfecta (AI) is a genetic enamel disorder caused by harmful changes (variants) in the KLK4 gene. The KLK4 gene makes an enzyme ...
Amelogenesis imperfecta (AI), pigmented hypomaturation type 1 is a genetic enamel problem. Enamel is the hard, white outer layer of the tooth. In this type of ...
Amelogenesis imperfecta (AI) is a group of inherited conditions where tooth enamel does not form or harden in the normal way. When AI is caused by a change ...
Amelogenesis imperfecta type 2A1 is a rare genetic condition that affects the hard outer covering of teeth, called enamel. In this condition, the enamel looks ...
Hypomaturation amelogenesis imperfecta is a genetic tooth-enamel disorder. In this condition, the tooth builds a normal-thickness enamel layer during early ...
Amelogenesis imperfecta type 2 is a genetic enamel formation problem that mainly affects the maturation stage of enamel. Your enamel is the hard, shiny outer ...
Enamel-renal-gingival syndrome is a rare inherited condition that affects the teeth, the kidneys, and the gums. Children are born with a gene change (they ...
Enamel-renal syndrome is a very rare genetic condition. It affects the teeth and the kidneys at the same time. In the teeth, the hard outer layer (enamel) is ...
Amelogenesis imperfecta–gingival hyperplasia syndrome is a rare inherited condition that mainly affects the teeth and gums. “Amelogenesis imperfecta” means the ...
Amelogenesis imperfecta hypoplastic with nephrocalcinosis is a rare, inherited condition. It mainly affects teeth and kidneys.In the teeth, the outer hard ...
Amelogenesis imperfecta (AI) is a group of genetic conditions where the hard outer layer of the teeth, called enamel, does not form in the normal way. When AI ...
Amelogenesis imperfecta and gingival fibromatosis syndrome is a rare, inherited condition that mainly affects the mouth and teeth. People are born with a ...
