Autosomal recessive anhidrotic/hypohidrotic ectodermal dysplasia (ARHED) is a rare inherited condition where parts of the body that come from the outer layer ...

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome is a rare inherited condition that affects structures that grow from the outer layer of the ...

Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome is a very rare, severe condition seen before birth or at delivery. “Posterior amelia” means ...

Autosomal recessive amelia means a baby is born without one limb or several limbs because both parents silently carried the same nonworking gene and each ...

Autosomal dominant preaxial polydactyly means a person is born with one or more extra digits on the preaxial side of a limb—the thumb side of the hand or the ...

Popliteal web syndrome means a baby is born with a tight web of skin and soft tissue behind the knee. This web tethers the thigh to the calf and blocks knee ...

Houlston-Ironton-Temple (HIT) syndrome is an extremely rare pattern of birth differences. Babies are born with a serious heart wall problem called an ...

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 ...

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 ...

Ataxia-telangiectasia (A-T) is a rare, inherited condition that starts in childhood and affects many body systems. It is caused by harmful changes in both ...

Congenital intrauterine infection-like syndrome is a term doctors used when a baby looks as if they were infected in the womb (like TORCH infections such as ...

Feeding difficulties means someone (most often an infant or child, but sometimes an adult) has ongoing problems with eating or drinking enough, or eating ...

Severe feeding difficulties – failure to thrive – microcephaly due to ASXL3 deficiency (Bainbridge-Ropers/ASXL3-related disorder) is a rare genetic ...

Bainbridge-Ropers syndrome (BRS) is a rare genetic condition that affects how a child develops from birth onward. It mainly causes developmental delay or ...

Intrauterine synechiae means thin bands or sheets of scar tissue that stick parts of the uterine cavity together. These scars form after injury or infection of ...

Intrauterine adhesions (IUA) are bands of scar tissue that form inside the uterus. These bands can make parts of the uterine cavity stick together. When the ...

Asherman syndrome means bands of scar tissue grow inside the uterus (womb) and sometimes the cervix after an injury or infection. These sticky bands are called ...

Arts syndrome is a rare, inherited condition that mainly affects boys. It causes weak muscles from early life, unsteady movement (ataxia), severe hearing loss, ...

Kuskokwim disease is a very rare, inherited condition in which children are born with joint contractures—joints that are stiff and cannot fully straighten or ...