A Dictionary of Congenital Malformations and Disorders

J. Gibson, Oliverira Potparic, O. Potparic

• Publisher: CRC Press
• Year: 2020
• Print ISBN: 9781850705772
• eBook ISBN: 9781000144512
• Topic: Medicine
• Subtopic: Genetics in Medicine

This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

C

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 24–72 h.

C3 syndrome

Other names Cranio-cerebello-cardiac dysplasia; Ritscher–Schinzel 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, Henoch–Schönlein purpura, chronic active hepatitis, Gougerot–Sjögren 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 — 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.

Camurati–Engelmann syndrome

Camurati–Engelmann 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 Jervell–Lange–Nielsen syndrome

Cardio–facio–cutaneous syndrome

Other name Noonan-like short stature syndrome

Cardio–facio–cutaneous 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.

Cartilage–hair hypoplasia syndrome

See Metaphyseal chondrodysplasia, McKusick type

Cartilage–hair hypoplasia with immunodeficiency

Cartilage–hair 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.

Cataract–oligophrenia syndrome

See Marinesco–Sjögren syndrome

Catel–Manzke syndrome

Catel–Manzke syndrome is Pierre Robin syndrome with abnormalities of the index and little fingers and atrial or ventricular septal defects.

Cat-eye syndrome

Other name Schmid–Fraccaro 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 ‘cat eye’), 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.

Cenani–Lenz syndactyly syndrome

Cenani–Lenz 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

Cerebro–costo–mandibular syndrome

Cerebro–costo–mandibular syndrome may be an autosomal recessive or an autosomal dominant condit...

Table of contents

• Cover
• Half Title
• Title Page
• Copyright Page
• Introduction
• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• R
• S
• T
• U
• V
• W
• X
• Z