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Acrocephalopolysyndactyly Syndromes

Topics Discussed:

acrocephalopolysyndactyly syndromes; acrocephalopolysyndactyly type iii; acrocephalopolysyndactyly type iv; acrocephalosyndactyly, type i; carpenter's syndrome.

Sections:

At a Glance, Classification and Synonyms, Genetic Inheritance, Pathophysiology, Diagnosis, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, References, Acrocephalopolysyndactyly Type I: Noack Syndrome, At a Glance, Synonym, History, Genetic Inheritance, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, Acrocephalopolysyndactyly Type II: Carpenter Syndrome, At a Glance, History, Genetic Inheritance, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, Other Condition to Be Considered, References, Acrocephalopolysyndactylytypeiii: Sakati-Nyhan Syndrome, At a Glance, Synonyms, History, Genetic Inheritance, Diagnosis, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, References, Acrocephalopolysyndactylytypeiv: Goodman Syndrome, At a Glance, Synonyms, Nature, Incidence, Genetic Inheritance, Diagnosis, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, References

Excerpt:

"Complex association of faciocranial dysmorphism.Noack syndrome is very similar to Pfeiffer syndrome. Patients present with enlarged thumbs, duplication of the great toes, and moderate acrocephaly.Craniosynostosis, acrocephaly, peculiar facies, syndactyly, short stature, midface or mandible hypoplasia, short neck, and high arched palate. Cardiac malformations.Patients present with severe acrocephaly and distinctive leg defects (hypoplastic tibia, bowed femora, coxa valga). Other features include brachydactyly, duplication of the first toe, preaxial polydactyly, and congenital heart disease.Extremely rare genetic disorder characterized by marked malformations of the head and face, polysyndactyly, and congenital heart defects, which may result in early death. Includes ulnar deviation with clinodactyly and camptodactyly. Believed to be a variant of Carpenter syndrome...."

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