Blepharonasofacial malformation syndrome is a very rare birth condition that affects the face, especially the eyelids (“blepharo-”), the nose (“naso-”), and ...

Lagophthalmia–cleft lip and palate syndrome (LCCLP) is a rare birth condition where a baby is born with two main problems together: (1) the eyelids do not ...

Elschnig syndrome, which today is more often called Blepharocheilodontic (BCD) syndrome. It is a rare, inherited condition present at birth that mainly affects ...

Ectropion inferior–cleft lip and/or palate syndrome is a rare, inherited condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and ...

Clefting–ectropion–conical teeth syndrome is a rare, inherited condition caused by changes in the TP63 gene that disrupt normal development of ectodermal ...

Blepharo-cheilo-odontic syndrome is a rare genetic condition that affects the eyelids, upper lip, and teeth. “Blepharo” means eyelid, “cheilo” means lip, and ...

Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and ...

Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It happens when platelets do not make enough thromboxane A₂ (TXA₂), or ...

Paediatric granulomatous arthritis (PGA) is a rare, inherited, autoinflammatory disease that begins in early childhood. “Autoinflammatory” means the child’s ...

Jabs syndrome is a very rare genetic condition that affects how collagen-rich tissues (skull bones, eyes, and skeleton) form and grow. Children typically have ...

Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial is a rare, inherited inflammatory disease that starts in early childhood. It mainly ...

Granulomatosis means “a body condition where many granulomas form.”A granuloma is a small, tight cluster of immune cells that the body builds when it cannot ...

Early-onset sarcoidosis (EOS) is a rare inflammatory disease that begins in early childhood. It causes the immune system to form tiny clumps of inflammatory ...

Arthro-cutaneo-uveal granulomatosis is a rare, inherited inflammatory disease that starts in early childhood. It mostly affects three places in the body: the ...

Exstrophy of the urinary bladder sequence is a rare birth condition. It starts when a baby is growing in the womb. The lower belly wall does not close. The ...

Congenital exstrophy of the urinary bladder is a birth defect. The lower belly wall does not close in the middle during early pregnancy. The front of the ...

Congenital ectopic bladder means a baby is born with the bladder sitting partly or fully outside the lower belly. The belly wall, pelvic bones, and urinary ...

Bladder exstrophy–epispadias–cloacal exstrophy complex (BEEC) is a group (a spectrum) of rare birth defects that affect the front wall of the belly and the ...

Bladder exstrophy is a rare birth defect. It happens when a baby’s lower tummy wall and the front wall of the bladder do not close before birth. Because of ...

Polyomavirus-associated nephropathy is kidney damage caused by reactivation of a common virus (usually BK polyomavirus) in people who receive a kidney ...