Jejunal atresia is a birth problem where a section of the middle small intestine (the jejunum) is blocked or missing. Because the tube is closed, milk cannot ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital small intestine atresia means a baby is born with a blocked or missing segment of the small bowel (jejunum or ileum). Food and fluid cannot pass ...
Apple-peel syndrome is a rare birth condition where a baby’s small intestine is blocked and twisted in a spiral, much like the peel of an apple. Doctors also ...
Atresia of the small intestine means a portion of a baby’s small bowel did not form a normal, open tube before birth. Instead of a smooth passage, there is a ...
Congenital hypotransferrinemia is an ultra-rare inherited condition where the blood has very little or almost no transferrin, the protein that normally carries ...
Atransferrinemia (also called congenital hypotransferrinemia) is a very rare inherited blood disorder where the body makes little or no transferrin, the main ...
Atkin–Flaitz–Patil–Smith syndrome is an extremely rare, X-linked syndromic intellectual disability described in a single extended family in the medical ...
Atkin-Flaitz syndrome (also reported as Atkin–Flaitz–Patil–Smith syndrome; sometimes listed as Atkin syndrome) is a rare X-linked genetic condition. It mainly ...
Athyreosis means a baby is born without any thyroid gland at all. Because the thyroid gland makes thyroid hormone, babies with athyreosis have primary ...
Feigenbaum–Bergeron–Richardson syndrome is an ultra-rare genetic disorder reported in the medical literature in 1994 in two brothers. It combines premature, ...
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a very rare inherited disorder. It causes early, widespread hardening and narrowing of ...
Atelosteogenesis type III (AO3) is a very rare genetic condition that affects how bones form before birth. Babies are usually born with very short arms and ...
Thanatophoric Dysplasia Type 1 (TD1) is a genetic bone growth disorder that starts before birth and is obvious at birth. Babies with TD1 have very short arms ...
Atelosteogenesis type II is a very rare, very severe bone and cartilage growth disorder that begins before birth. It happens because the baby’s cartilage—the ...
Spondylo-humero-femoral dysplasia (SHFD) is a very rare genetic bone disorder that affects the spine (spondylo-), the upper arm bones (humeri), and the thigh ...
Giant cell chondrodysplasia, in today’s language, means a bone or jaw growth problem where the tissue shows many “giant cells” under the microscope and the ...
Atelosteogenesis type I is a very rare genetic condition that affects how bones form before birth. Babies have very short arms and legs, dislocated large ...
Oculomotor apraxia (OMA) means the brain has trouble starting fast eye movements called saccades, especially when trying to look to the side on purpose. People ...
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia is a rare, inherited brain and nerve disorder that starts in childhood. The main problems are ...
Ataxia-telangiectasia-like disorder 2 (ATLD2) is a very rare, inherited (autosomal recessive) brain and body condition. It happens when both copies of a gene ...
