Table 2.

Complex Syndromes Associated with Severe Insulin Resistance

Syndrome	Gene(s)	Inheritance	Core Clinical Features	IR Subphenotype
Alström (OMIM #203800)	ALMS1	AR	Rod-cone dystrophy, deafness, cardiomyopathy, pulmonary/ hepatic/ renal dysfunction	Severe fatty liver and dyslipidaemia
MOPDII* (OMIM #210720)	PCNT	AR	Short stature, microcephaly, osteodysplasia, Moya moya vascular anomalies	Severe fatty liver and dyslipidaemia
Bloom (OMIM #210900)	RECQ2	AR	Telangiectases, photosensitivity, short stature, immunodeficiency, increased susceptibility to cancer	Severe fatty liver and dyslipidaemia
Werner (OMIM #277700)	RECQL2 LMNA	AR	Premature ageing, osteoporosis, cataracts, atherosclerosis, increased susceptibility to cancer Limb contractures	Severe fatty liver and dyslipidaemia
Mandibuloacral dysplasia (OMIM #248370)	LMNA ZMPSTE 24	AR	Postnatal growth retardation, craniofacial and skeletal abnormalities, cutaneous pigmentation	Severe fatty liver and dyslipidaemia

^*MOPDII, Osteodysplastic primordial dwarfism of Majewski type II.