Disease Directory

Cranioectodermal dysplasia 6 is a condition for which clear clinical boundaries remain to be fully defined. The genetic basis is under investigation a...

Craniofacial conodysplasia is a condition marked by distinctive craniofacial dysplasia along with cone‐shaped growth regions in the bones of the hands...

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 is a very rare inherited condition that affects multiple body sy...

Craniofacial dysplasia - osteopenia syndrome is a very rare multisystem condition characterized by abnormalities affecting the craniofacial region, bo...

Craniofacial dyssynostosis is a rare cranial malformation syndrome that primarily affects the shape and development of the skull and face. It is chara...

Craniofacial microsomia is a complex condition characterized by a range of facial anomalies, primarily affecting the development of the ears, jaw, and...

Craniofacial microsomia 1 is a congenital condition that primarily affects craniofacial development, with notable impacts on the structure of the lowe...

Craniofacial microsomia 2 is a condition primarily affecting the development of facial structures, with particular involvement of the ear and jaw regi...

Craniofacial-deafness-hand syndrome is an ultra-rare condition that affects the development of the face, ears, and hands. It is caused by pathogenic v...

Craniofaciofrontodigital syndrome is a rare multisystem condition characterized by multiple congenital anomalies affecting the craniofacial, cardiac,...

Craniofrontonasal dysplasia-Poland anomaly syndrome, also known as Webster-Deming syndrome, is a polymalformative condition that affects the craniofac...

Craniofrontonasal syndrome is an X-linked malformation condition primarily affecting craniofacial and skeletal development. It is caused by pathogenic...

Craniolenticulosutural dysplasia, also known as Boyadjiev-Jabs syndrome or CLSD, is a condition affecting craniofacial development and the skeleton. I...

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare disorder affecting the development of the cranial and tubular bones. It is char...

Craniometaphyseal dysplasia is a very rare bone disorder characterized by abnormal thickening of the cranial bones and widening of the metaphyses in l...

Craniometaphyseal dysplasia, autosomal dominant is a skeletal condition that primarily affects the craniofacial bones and dentition. It is associated...

Craniometaphyseal dysplasia, autosomal recessive is a skeletal disorder marked by abnormal bone development that primarily affects the skull and facia...

Craniomicromelic syndrome is a developmental disorder that primarily affects skeletal formation, especially the skull and limbs. It is characterized b...

Craniopharyngioma is a benign tumor that forms in the sellar region of the brain. It is partly cystic and is thought to originate from Rathke pouch ep...

Craniorachischisis is the most severe form of neural tube defect characterized by an open brain and spinal cord, resulting in a major congenital malfo...