Mandibuloacral dysplasia with type A lipodystrophy

An autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. It is associated with mutations in the LMNA gene. OMIM: 248370

Also Known As:

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Sclerosis
2.	Chronic Kidney Failure (Chronic Renal Failure)

Therapies and Procedures

1.	Kidney Transplantation 06/01/1995 - "This paper reports an isolated case of the exceedingly rare cutaneo-skeletal condition craniomandibular dermatodysostosis, in which focal glomerular sclerosis and end-stage renal failure developed and renal transplantation was required."