C1 deficiency
C1 is the first component of complement and is composed of the three glycoproteins C1q, C1r and C1s. Deficiency of C1 can be inherited or acquired and is likely to cause symptoms similar to those of systemic lupus erythematosus and susceptibility to recurrent infections.
C1 inhibitor deficiency
C1 inhibitor is a member of the serpin family of protease inhibitors. Hereditary angioneurotic edema occurs in people who are heterozygous for C1 inhibitor deficiency. Hereditary angioneurotic edema is characterized by recurrent acute attacks of the skin and mucosa. Edema of the skin is not painful, does not itch and is non-pitting; erythematous mottling can be present. Organs likely to be affected are the larynx and gastrointestinal tract. The onset is usually in childhood and attacks usually last for 24ā72 h.
C3 syndrome
Other names Cranio-cerebello-cardiac dysplasia; RitscherāSchinzel syndrome
C3 syndrome is an autosomal recessive condition characterized by hindbrain malformations, ventricular septal defect with parachute-shaped mitral valve, micronychia (small nails), and hypoplasia of the terminal phalanges.
G4 inherited deficiency
C4 is the fourth component of complement, a three-chain glycoprotein and a major protein in the classical pathway of complement activation. Complete C4 deficiency gives rise in most cases to systemic lupus erythematosus, discoid lupus erythematosus and an increased susceptibility to infections. Partial C4 deficiency predisposes to different autoimmune diseases, including systemic lupus erythematosus, discoid lupus erythematosus, systemic sclerosis, IgA deficiency, IgA nephropathy, HenochāSchƶnlein purpura, chronic active hepatitis, GougerotāSjƶgren disease, common variable immunodeficiency, subacute sclerosing panencephalitis, and benign recurrent hematuria.
C6, C7, C8, C9 deficiencies
Inherited deficiencies of the terminal components (C6, C7, C8, C9) of complement can be associated with neisserial infections and possibly sometimes with other infections.
Caffey pseudo-Hurler syndrome
See Generalized gangliosidosis syndrome
Camptomelic dysplasia
Camptomelic dysplasia (camptomelique ā bent limb) is an autosomal recessive condition characterized by bowed tibiae, flat facies, growth deficiency, large brain, short flat vertebrae, hypoplastic scapulae, cleft palate, and, sometimes, cardiac defects and hydramnios. Death in the postnatal period is common.
CamuratiāEngelmann syndrome
CamuratiāEngelmann syndrome is a familial dominant disorder characterized by fusiform enlargement of the shafts of the bones of the legs, other bone deformities, eye defects, and hypogonadism.
Canavan syndrome
Canavan syndrome is an autosomal recessive inherited disease in which a spongy degeneration of the white matter of the brain develops in infancy and causes opdc atrophy with blindness, muscle rigidity, poor head control, and exaggerated reflexes. The head can become enlarged. Death occurs in the first 5 years of life.
Cantrell pentalogy
Cantrell pentalogy is an association of cleft sternum, lower thoracic wall malformation, diaphragmatic defect, cardiac anomaly and pericardial defect. Omphalocele is an associated condition.
Capillary telangiectasia
See Intracranial capillary angioma
Carbamyl phosphate synthetase deficiency
See Urea cycle disorders
Cardioauditory syndrome
See JervellāLangeāNielsen syndrome
Cardioāfacioācutaneous syndrome
Other name Noonan-like short stature syndrome
Cardioāfacioācutaneous syndrome is an autosomal dominant condition with a variable phenotypic expression. It is characterized by short stature, cardiac anomalies (atrial septal aneurysm, hypertrophic cardiomyopathy), macrocephaly, facial anomalies (roundness, hypertelorism, broad nose, sparse eyebrows), and cutaneous anomalies (hyperkeratosis, erythematous plaques on the cheeks and trunk).
Carpenter syndrome
Other name Acrocephalosyndactyly type II
Carpenter syndrome is a congenital syndrome characterized by acrocephaly, sometimes of severe degree, premature closing of the cranial sutures, hypertelorism, a flat nasal bridge, and a hypoplastic mandible. Webbing of digits three and four is present; there may be abnormalities of the toes. Other features can be short neck, omphalocele, pulmonary stenosis, atrial ventricular defect, or Fallot tetralogy.
Cartilageāhair hypoplasia syndrome
See Metaphyseal chondrodysplasia, McKusick type
Cartilageāhair hypoplasia with immunodeficiency
Cartilageāhair hypoplasia can be associated with immunodeficiency, inherited as an autosomal recessive trait and varying in intensity from mild dysfunction to severe combined immunodeficiency. It can develop early in childhood or after a few years.
Cataract
Congenital cataract occurs in about 1 in 250 births. Several forms of inheritance can exist, with most genetic forms without a metabolic cause having a dominant inheritance, with the risk for sibs of about 10% and the risk for offspring of an affected person just below 50%. Cataracts are commonly associated with chromosomal disorders, especially of chromosomes 13, 18, and 21. Others occur in metabolic disorders, especially galactosemia, in congenital ichthyosis, and in ectodermal dysplasias. Other causes are maternal rubella and Turner syndrome.
Cataractāoligophrenia syndrome
See MarinescoāSjƶgren syndrome
CatelāManzke syndrome
CatelāManzke syndrome is Pierre Robin syndrome with abnormalities of the index and little fingers and atrial or ventricular septal defects.
Cat-eye syndrome
Other name SchmidāFraccaro syndrome
Cat-eye syndrome is an autosomal dominant condition, most cases having one or more extra copies of chromosome fragment 22q11. Clinical features are a vertical coloboma of the iris (hence ācat eyeā), downward-slanting palpebral fissures, preauricular fistula, anal atresia, umbilical hernia, cardiac and renal defects, and mental retardation.
Caudal dysplasia
See Caudal regression syndrome
Caudal regression syndrome
Other names Caudal dysplasia; sacral agenesis
Caudal regression syndrome is characterized by maldevelopment of the sacrum, coccyx, and lumbar vetebrae, absence of the body of the sacrum, failure of normal development of the lower end of the spinal cord and related spinal roots and nerves, incontinence of urine and feces, impaired development of the lower limbs, popliteal webs limiting movement of the knees, and talipes equinovarus. Associated conditions can be microcephaly, meningocele, cleft lip and palate, renal agenesis and imperforate anus. The cause is unknown. Most cases are sporadic. There is an association with diabetes mellitus, with about one child in 350 of diabetic mothers suffering from caudal regression syndrome.
CenaniāLenz syndactyly syndrome
CenaniāLenz syndactyly syndrome is an autosomal recessive condition characterized by syndactyly of fingers, radioulnar synostosis, shortened forearms, hypoplasia of the phalanges, and sometimes syndactyly of the toes.
Centromeric region syndrome
Centromeric region syndrome is an immunodeficiency syndrome in which there is chromosomal instability, breakage, and unusual configurations, especially on chromosomes 1, 9, and 16. The immunodeficiency is variable. There is a low production of immunoglobulin. Clinical features are likely to be ataxia, dystonia, choreoathetosis, dysmorphic facies, bilateral epicanthic folds, exomphalos, recurrent respiratory infections, failure to thrive and growth retardation.
Cerebral gigantism
See Sotos syndrome
Cerebroācostoāmandibular syndrome
Cerebroācostoāmandibular syndrome may be an autosomal recessive or an autosomal dominant condit...