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Diseases » Aase Smith syndrome » Causes

Causes of Aase Smith syndrome

Contents

Aase Smith syndrome Causes: Book Excerpts

Related information on causes of Aase Smith syndrome:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Aase Smith syndrome may be found in:

Hidden causes of Aase Smith syndrome

Causes of Aase Smith syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Aase Smith syndrome.

Cleft Lip/Palate: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Cleft lip with or without cleft palate
–Incidence 1/500–1/2,500
–Highest incidence among Native Americans
–Defects are unilateral in 80%
–More common in boys
–Pathogenesis is multifactorial
Isolated cleft palate
–Incidence 1/2,000
–More common in girls

Pierre-Robin sequence
–Micrognathia, glossoptosis (posterior displacement of the tongue to pharynx), and cleft palate
–Incidence 1/2,000–1/30,000
–Mortality 2.2–26%

Syndrome-associated cleft lip with or without cleft palate
–Accounts for 30% of cases
–Over 300 syndromes include this phenotype
–Stickler syndrome (25%): Pierre-Robin sequence with severe progressive myopia and arthritis in young adulthood
–Velocardiofacial syndrome (15%): Slender hands and fingers, cardiac defects (TOF, VSD, right aortic arch), prominent nose; deletion of 22q11.21
–DiGeorge syndrome: Thymic hypoplasia, hypoparathyroidism, cardiac defects (truncus arteriosus, interrupted aortic arch) same spectrum at velocardial facial with same deletion of 22q
–Trisomy 13: Microcephaly, cutis aplasia, polydactyly cardiac defects
–Trisomy 18: Low-set ears, clenched hands, rocker bottom feet, cardiac defects
–van der Woude syndrome: Cleft palate associated with lip pits

Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency
Fetal alcohol syndrome
Treacher Collins syndrome

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Cleft lip and cleft palate: Causes and incidence
(Professional Guide to Diseases (Eighth Edition))

Cleft lip or palate most commonly occurs as an isolated birth defect. Isolated cleft lip with or without cleft palate and cleft palate only are the result of a disruption in the normal development of the orofacial structures. This disruption in development is thought to be the result of a combination of genetic and environmental factors. Cleft lip or cleft palate may also occur as part of a chromosomal or Mendelian syndrome (cleft defects are associated with over 300 syndromes). Exposures to specific teratogens during fetal development may also produce these defects.

Cleft lip with or without cleft palate occurs in approximately 1 in 1,000 births among Whites; the incidence is higher in Asians (1.7 in 1,000) and Native Americans (over 3.6 in 1,000) but lower in Blacks (1 in 2,500).

A family history of cleft defects increases the risk of a couple having a child with a cleft defect. Likewise, an individual with a cleft defect is at an increased risk for having a child with a cleft defect. Children with cleft defects and their parents or adult individuals should be referred for genetic counseling for accurate diagnosis of cleft type and recurrence risk counseling. Recurrence risk information is based on family history, the presence or absence of other physical or cognitive traits within a family, and prenatal exposure information.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Cleft lip and cleft palate: Causes
(Handbook of Diseases)

Cleft lip or palate can occur as part of another chromosomal or Mendelian abnormality (more than 150 have been identified); however, exposure to teratogens during fetal development or a combination of genetic and environmental factors may also produce these defects.

Cleft lip with or without cleft palate occurs in about 1 in 1,000 births among Whites; the incidence is higher among Asians (1.7 in 1,000) and Native Americans (more than 3.6 in 1,000) but lower among Blacks (1 in 2,500). A positive family history is a risk factor for cleft defects.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003