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At a Glance

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Skeletal dysplasia, broad short thumbs, and pectoral and sternal deformities. Assess vertebral anomalies by radiologic examination of spine. Spina bifida occulta may be present.

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Synonyms

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Acropectorovertebral Dysplasia; Opitz F Syndrome.

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Incidence and Genetic Inheritance

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Autosomal dominant. Fewer than 15 cases reported in the literature.

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Clinical Aspects

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Skeletal dysplasia, broad short thumbs, distal thumb phalanx duplication, thumb and index finger syndactyly, fused capitate and hamate, syndactyly of toes, malformed toes. Pectoral and sternal deformities. Vertebral anomalies and spina bifida occulta at L5 or S1.

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Anesthetic Considerations

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Assess vertebral anomalies by radiologic examination of spine. Because spina bifida occulta may be present, there is an increased risk of dural puncture with lumbar extradural block.

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Pharmacological Implications

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No specific pharmacological implications.

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Other Condition to Be Considered

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Grosse Syndrome (Cranioacrofacial Syndrome): Autosomal dominant condition characterized by cardiac anomalies (ventricular septal defect, pulmonic stenosis), narrow head and face, minor head anomalies, and Dupuytren contractures.

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References

Grosse F, Herrmann J, Opitz JM: The F-form of acropectorovertebral dysplasia: The F-syndrome. Birth Defects Orig Artic Ser 3:48, 1969.
Dundar M, Gordon TM, Ozyasgan I, et al: A novel acropectoral syndrome maps to chromosome 7q36. J Med Genet 38: 304, 2001.  [PubMed: 11333865]
Camera G, Camera A, Pozzolo S, et al: F-Syndrome (F-form of acropectoro-vertebral dysplasia): Report on a second family. Am J Med Genet 57:472, 1995.  [PubMed: 7677153]

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At a Glance

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Genetically transmitted lysosomal storage disorder caused by a deficiency in α-galactosidase and characterized by an accumulation of substrate in many organs and tissue resulting in progressive neurologic and vascular degeneration.

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Fabry Disease
Graphic Jump Location

Angiokeratomata on the eyelids in a patient with Fabry disease.

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Synonyms

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Angiokeratoma Corporis Diffusum; Anderson-Fabry Disease; Alpha-Galactosidase A Deficiency.

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Incidence

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Second most prevalent metabolic storage disorder. Gaucher disease being the most prevalent. Incidence is 1:117,000 live births.

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Genetic Inheritance

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Transmission is recessive and X-linked. Men are affected, but women carriers can present symptoms of the disease.

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Pathophysiology

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Lack of α-galactosidase A leads to intracellular accumulation of its substrate globotriaosylceramide. This defect leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and finally death.

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Diagnosis

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Diagnosis is clinical and biochemical. The clinical signs indicating Fabry disease are the presence of angiokeratomas in the skin and mucous membrane and benign corneal ...

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