Inherited polymalformative syndrome characterized by
craniofacial anomalies with gingival fibromatosis, dystrophic fingers and
Unknown; 29 cases reported in the literature up until
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
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
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.