Diseases

Citrulline transport defect

A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old.

Citrullinemia type 2

Citrullinemia is one of the urea cycle disorders, caused by argininosuccinic acid synthetase deficiency (ASS), with an estimated incidence of 1/57,000 live births. The diagnosis of citrullinemia is based on biochemical analysis of blood, plasma, and urine, revealing increased levels of ammonia, citrulline, glutamine, and orotic acid. ASS enzyme activity can be assayed in liver samples and cultured fibroblasts. In neonatal-onset disease, neonates exhibit lethargy and vomiting 24–72 hours after birth, rapidly progressing to respiratory insufficiency and coma. Neurodevelopmental outcome of neonatal urea cycle defects is disappointing and is related to the duration of neonatal hyperammonemic coma. There is, however, no consensus regarding other early prognostic indicators. Reports on imaging findings in citrullinemia are sparse. A recent article describes CT findings in two infants in the chronic stage of this disease.

Type 2 citrullinemia is also an adult-onset, autosomal recessive disorder characterized by episodes of hyperammonemic encephalopathy. It is caused by mutations in the SLC25A13 gene, which encodes the liver-specific isoform of the mitochondrial aspartate–glutamate carrier (AGC2).

Clark-Baraitser syndrome

A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.

Classic citrullinemia

Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Since the substances also accumulate in the urine, the disorder can also be called citrullinuria.

Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions taking place in the liver. These reactions process excess nitrogen, generated when protein is used for energy by the body, to make urea, which is excreted by the kidneys.

 

Clear cell carcinoma of the ovary

Clear-cell carcinoma of the ovary (CCCO) is a distinct entity of epithelial ovarian cancer in terms of clinical, histopathological, or genetic features. The incidence of CCCO is different by ethnicity but the reason is not clear yet. Overall prognosis of CCCO is good because most CCCO is found in stage I. However, advanced disease is associated with a very poor prognosis and resistance to standard treatment. The same is true for recurrent disease. Therefore, genetic analysis of CCCO is important to find the right target(s) and better therapeutic approaches. Because of its rarity, international collaboration is necessary to conduct randomized clinical trials for CCCO.

Clear cell renal cell carcinoma

The clear cell renal cell carcinoma (also called common, conventional or non papillary renal cell carcinoma, CCRCC), is a distinct subtype of renal cell carcinoma, possibly originating from mature renal tubular cells in the proximal tubule of the nehpron.

Cleft hand absent tibia

Tibial hemimelia-split hand/foot syndrome (TH-SHFM) is a rare constellation of multiple congenital malformations which includes Ectrodactyly (Lobster claw deformity or Cleft hand/foot) with a wide range of phenotypes of absent tibia/tibial hemimelia or long bone deficiency(1,2). We describe a proposita with these characteristic anomalies in absence of family history of malformations. This was associated with sacral agenesis, anorectal atresia, hemi-vertebra and ventricular septal defect, hither to undescribed.

Cleft lip and/or palate with mucous cysts of lower

Van Der Woude syndrome (VDWS) consists of the following characteristics: cleft lip with or without cleft palate, isolated cleft palate, pits or mucous cysts on the lower lip, and hypodontia. It is the most common syndromic form of cleft lip and palate (CLP), accounting for 2% of all CLP cases (usually CLP is nonsyndromic). Affected individuals have normal intelligence. It was first characterized in 1954

Cleft lip palate deafness sacral lipoma

Cleft lip palate - deafness - sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.

Cleft lip palate ectrodactyly

Cleft lip - palate - ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.

Cleft lip palate pituitary deficiency

A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.

Cleft lip palate-tetraphocomelia

Tetraphocomelia-cleft lip-palate syndrome (medical condition): A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency

Cleft palate cardiac defect ectrodactyly

Ectrodactyly is a birth defectdefectdefect that causes malformation of the hands and/or feet. In this condition, the middle finger or middle toe is missing. As well, the two fingers or toes to the right and left of the missing finger are fused together.

Cleft palate lateral synechia syndrome

Cleft palate - lateral synechia syndrome: A very rare syndrome characterized by a cleft palate and adhesions of the roof of the mouth to parts of the tongue.

Clinically Significant Angiokeratomas

Clinically significant angiokeratomas refer to various forms of benign vascular lesions that, despite their benign nature, can be either clinically relevant due to their underlying systemic association (e.g., Fabry disease) or present with symptoms like bleeding, itching, or pain that necessitate treatment. These small, often red-blue to black, warty papules or nodules are characterized by dilated blood vessels in the skin’s papillary dermis with overlying hyperkeratosis. Differentiating between localized forms, which may cause cosmetic concerns or minor bleeding, and widespread forms, which often signal a systemic disorder, is key to determining clinical significance.

CLN2 disease

CLN2 disease is a rare, inherited neurodegenerative disorder that causes progressive decline in motor skills, language, and cognition, leading to early death. Symptoms typically begin between ages 2 and 4 with seizures, ataxia (difficulty coordinating movements), and vision loss, followed by developmental regression, dementia, and muscle twitches (myoclonus). The disease is caused by mutations in the TPP1 gene, resulting in a deficiency of the TPP1 enzyme and the accumulation of proteins in brain cells. 

Cluttering

Cluttering (also called tachyphemia) is a speech disorder and a communication disorder characterized by speech that is difficult for listeners to understand due to rapid speaking rate, erratic rhythm, poor syntax or grammar, and words or groups of words unrelated to the sentence. Cluttering has in the past been viewed as a fluency disorder