Table 1.

Extremely Rare Genetic Lipodystrophy Syndromes

Lipodystrophy	Gene	Clinical Features
MAD Type B	ZMPSTE24	Craniofacial, cutaneous and skeletal abnormalities, premature renal failure and progeroid features, generalized loss of fat22
MDP syndrome	POLD1	Mandibular hypoplasia, deafness and progeroid features, progressive lipodystrophy23
Neonatal progeroid syndrome type a	FBN1	Marfanoid/ progeroid appearance, dilated aortic bulb, bilateral subluxation of the lens, myopia in addition to severe generalized lipodystrophy, and muscle mass, no significant metabolic abnormalities associated with insulin resistance24
Nestor-Guillermo Progeria Syndrome	BANF1	Growth retardation, decreased subcutaneous fat, thin limbs and stiff joints25
Keppen-Lubinsky syndrome	KCNJ6	Severe intellectual disability, microcephaly, developmental delay, prominent large eyes, progeroid features with an open mouth, and generalized lipodystrophy.26
SPRTN mutations	SPRTN	Genomic instability, progeroid features, lipodystrophy, and hepatocellular carcinoma27

Note: The Werner Syndrome is also included in this category. Data from Wuyts et al19 and Kashyap et al.21

Abbreviations: BANF1, barrier to autointegration factor1; FBN1, fibrillin-1; KCNJ6, potassium inwardly-rectifying channel subfamily J member 6; MAD, mandibuloacral dysplasia; MDP, mandibular hypoplasia, deafness, progeroid features, POLD1, polymerase (DNA) delta 1, catalytic subunit; SPRTN, spartan; ZMPSTE24, zinc metallopeptidaseSTE24.