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Inherited polymalformative syndrome characterized by craniofacial anomalies with gingival fibromatosis, dystrophic fingers and fingernails.


Zimmermann-Laband Syndrome.


Unknown; 29 cases reported in the literature up until 2004.


Autosomal dominant.


Findings are suggestive of a storage disorder, but no biochemical defect has been identified.


Clinical features first observed in infancy, with evolution during childhood. Radiologic evidence of hypoplastic terminal phalanges of the toes, with the most postaxial digits most markedly affected. The terminal phalanges of the hands may have narrow shafts and are hypoplastic. There may also be narrowing of the distal interphalangeal joint spaces in both hands and feet, with the narrowing being more pronounced in the feet.


Coarse facial appearance, gingival fibromatosis. Variable intellectual deficit, hepatosplenomegaly, hirsutism, small joint hyperextensibility, and “dystrophic” fingernails and toenails. Association with proximal aortic dilatation and cardiomyopathy.


Echocardiography may be required to assess cardiac function. Laboratory investigation should include coagulation profile, liver function, and renal excretion.


As determined by cardiac function. Gingival fibromatosis may make tracheal intubation or insertion of a laryngeal mask difficult.


No known pharmacological implications.


Ramon Syndrome: Gingival fibromatosis associated with maxillary fibrous dysplasia, seizures, mental retardation, rheumatoid arthritis, and hypertrichosis. An autosomal recessive transmission has been suggested.

Katz J, Guelmann M, Barak S: Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities. Pediatr Dent 24:253, 2002.  [PubMed: 12064501]
Robertson SP, Lipp H, Bankier A: Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. Am J Med Genet 78:160, 1988.

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