Mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.

Keratitis

Inflammation of the cornea.


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PMID (PMCID)
17103436
 MALE Adult
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brondum-Nielsen K.
Am J Med Genet A. 2006;140(24):2709-13.
We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-deafness syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.