Cramer Niederdellmann syndrome
A very rare syndrome characterized mainly by abnormal brain development and jaw cysts
Diseases
Cramp-fasciculations syndrome
A rare condition characterized by muscle pain, cramps, twitching, spasms and other abnormal sensations that occur mainly in the limbs.
Crandall syndrome
A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.
Crane-Heise syndrome
A very rare fatal disorder characterized by numerous abnormalities.
Cranio osteoarthropathy
A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
Cranioacrofacial syndrome
A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.
Craniodigital syndrome mental retardation
A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies
Cranioectodermal dysplasia
A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
Craniofacial and skeletal defects
A very rare syndrome characterized mainly by skeletal defects and facial and skull anomalies.
Craniofacial deafness hand syndrome
A very rare syndrome characterized by facial anomalies, deafness and hand abnormalities.
Craniofacial dysostosis arthrogryposis progeroid appearence
A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
Craniofacial dyssynostosis
A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.
Craniofaciocardioskeletal syndrome
A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
Craniofaciocervical osteoglyphic dysplasia
A very rare syndrome characterized by a short head and face, skeletal anomalies and destruction of tooth sockets.
Craniofrontonasal dysplasia
Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin.
Craniofrontonasal syndrome Teebi type
Teebi described in 1987 an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia.
Craniolenticulosutural dysplasia
A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
Also known as: Boyadjiev-Jabs syndrome.
Craniometaphyseal dysplasia- autosomal dominant
Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an 5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954.
Craniometaphyseal dysplasia- autosomal recessive type
A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
Craniomicromelic syndrome
A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
Craniopharyngioma
Craniopharyngioma (Rathke pouch tumors, hypophyseal duct tumors, or adamantinomas), is a type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in men and women in their 50s and 60s. People may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, as the tumor may compress the optic chiasm.
It has a point prevalence of approximately 2/100,000.
Craniopharyngioma
Craniostenosis cataract
Craniostenosis cataract: A rare condition characterized by the association of cataracts and premature fusion of the skull bones.
Craniostenosis with congenital heart disease mental retardation
Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features
Craniosynostosis
Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
Craniosynostosis alopecia brain defect
Craniosynostosis - alopecia - brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
Craniosynostosis arthrogryposis cleft palate
Craniosynostosis autosomal dominant
Craniosynostosis autosomal dominant: A dominantly inherited defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.