Joubert syndrome with congenital hepatic fibrosis is a rare genetic condition that affects both the brain and the liver at the same time. In this condition, ...

Gentile syndrome is a very rare genetic disease. It belongs to the same family of diseases as Joubert syndrome, which affects the brain, and congenital hepatic ...

Oligophrenia is an old medical word that means a long-lasting problem with learning, thinking, and daily life skills that starts in childhood. Today doctors ...

Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called ...

COACH syndrome is a very rare genetic disease that mainly affects the brain, liver, eyes, and sometimes the kidneys. It is an autosomal recessive condition, ...

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth ...

CLOVES syndrome is a very rare disease where some parts of the body grow too much and in an uneven way. It usually starts before birth, so the baby is born ...

Cloverleaf skull–multiple congenital anomalies syndrome is a very rare condition that a baby is born with. In this syndrome, the bones of the skull close too ...

Asphyxiating thoracic dysplasia (often called Jeune syndrome) is a rare genetic bone growth problem. It mainly affects the chest, ribs, spine, and the long ...

Benallegue-Lacete syndrome is an extremely rare birth condition that affects how the baby’s bones and skull grow before birth. It is also called a syndromic ...

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome is an extremely rare genetic bone disorder that affects a baby before birth. In this syndrome, the ...

Kleeblattschadel deformity, also called cloverleaf skull, is a very rare birth problem where a baby’s skull looks like a three-lobed cloverleaf. This happens ...

Cloverleaf skull deformity is a very rare problem where a baby’s skull looks like a three-leaf clover when seen from the front. The head has three rounded ...

Cloverleaf skull syndrome is a rare problem where a baby’s skull grows in a three-lobed shape that looks like a cloverleaf. This happens because several soft ...

Clouston’s hidrotic ectodermal dysplasia is a rare inherited skin and hair condition. It mainly affects the hair, nails and the thick skin on the palms of the ...

Clouston syndrome is a rare condition that a person is born with. It mainly affects three things in the body: the hair, the nails, and the skin on the palms of ...

Omphalocele–cloacal exstrophy–imperforate anus–spinal defect syndrome is usually called OEIS complex. It is a very rare birth condition where a baby is born ...

Exstrophy of cloaca sequence is a very rare birth defect. It happens very early in pregnancy, when the baby is still an embryo. In this condition, the lower ...

Cloacal exstrophy is a very rare birth defect. It happens when a baby’s lower tummy (abdomen), bladder, intestines, bottom (anus), and sometimes the spine and ...