Diseases

Christian Johnson Angenieta syndrome

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Christian johnson angenieta syndrome as a "rare disease".

Christian syndrome

A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.

Chromomycosis

A chronic fungal infection that occurs in tropical areas. The skin lesions tend to persist for long periods of time and may become cancerous in some cases.

Chromophil renal cell carcinoma

A type of kidney tumor where the cells that make up the tumor take up dye readily during pathology testing. For more than two decades, chromophil (or papillary) renal cell carcinoma has been recognized as a possible distinct clinicopathologic subtype of renal cell carcinoma (RCC). However, the histologic criteria for its diagnosis and the clinical outcome are still debated.

Chromophobe renal cell carcinoma

A rare type of kidney tumor. The cells that make up the tumor tend to be clear and do not readily take up dye during pathology analysis. Metastasis often only occurs late in the course of the disease and surgical removal usually leads to a good prognosis.

Chromosomal abnormalities

About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes. There are many different chromosomal abnormalities. Many children with a chromosomal abnormality have mental and/or physical birth defects. Understanding what chromosomes are may make it easier to understand the wide range of problems chromosomal abnormalities can cause.

Chromosome 1 ring

A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight.

Chromosome 1- 1p36 deletion syndrome

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.

Chromosome 1- deletion q21 q25

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.

Chromosome 1- duplication 1p21 p32

A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.

Chromosome 1- monosomy 1p22 p13

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.

Chromosome 1- monosomy 1p31 p22

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.

Chromosome 1- monosomy 1p32

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.

Chromosome 1- monosomy 1p34 p32

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.

Chromosome 1- monosomy 1q25 q32

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.

Chromosome 1- monosomy 1q32 q42

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.

Chromosome 1- monosomy 1q4

A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.

Chromosome 1- trisomy 1q32 qter

A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.

Chromosome 1- trisomy 1q42 qter

A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.

Chromosome 10 ring

A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 10- distal trisomy 10q

A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.

Chromosome 10- monosomy 10p

Chromosome 10, Monosomy 10p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 10, Monosomy 10p, or a subtype of Chromosome 10, Monosomy 10p, affects less than 200,000 people in the US population.

Chromosome 10- trisomy 10p

Chromosome 10, trisomy 10p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 10, trisomy 10p, or a subtype of Chromosome 10, trisomy 10p, affects less than 200,000 people in the US

Chromosome 10- trisomy 10pter p13

A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.