Diseases

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.

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.

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.

 

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 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.

Craniosynostosis contractures cleft

Main name of condition: Iida-Kannari syndrome Other names or spellings for Iida-Kannari syndrome: craniosynostosis [joint contractures - ear deformity - cleft palate - scoliosis - other features], Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features :-A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.

Craniosynostosis Fontaine type

Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).

Craniosynostosis Maroteaux Fonfria type

Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally.

Craniosynostosis radial aplasia syndrome

Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.

Craniosynostosis- anal anomalies- and porokeratosis

Craniosynostosis, anal anomalies, and porokeratosis: A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis.

Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus

Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.

Craniotelencephalic dysplasia

Craniotelencephalic dysplasia (medical condition): A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.

Crawfurd syndrome

Crawfurd syndrome: A very rare disorder characterized mainly by an absent or small spleen, abnormal kidney development and cysts in the liver, kidneys and pancreas.

Creatine Transporter Deficiency

Creatine Transporter Deficiency is a rare x-linked inborn error of creatine metabolism, broadly classified as an Autism Spectrum Disorder and form of x-linked mental retardation (XLMR). CTD is caused by a defect in the SLC6A8 gene that encodes the creatine transporter protein necessary for the transport of creatine across the blood-brain barrier and across cell membranes. Creatine is taken into cells via the creatine transporter, where it plays an essential role in energy homeostasis, particularly for tissues with high and fluctuating energy demands, such as neurons. Simply put, patients with CTD lack creatine in the brain, which is an essential component of the energy system, and as a result the brain does not have the energy to function properly. This lack of energy results in the symptoms associated with CTD.

Creeping disease

Creeping disease: A skin disease caused by a parasite which tunnels its way through the skin leaving a visible red, itchy, linear eruption on the skin where it has been. The hookworm parasite can't use humans to complete its life cycle but continues to travel through the skin until it dies. Transmission usually occurs through skin contact with warm, moist soil contaminated by the feces of an infected animal.

CREST syndrome

CREST stands for Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia.