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June 8, 2021 Dear Colleagues, I am pleased to announce that UT Southwestern has been granted the Clinical and Translational Science Award (CTSA) – a $46 million, five-year grant – from the National Institutes of Health. With this award, UT Southwestern joins a national network of medical r…

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Inherited: SHORT Syndrome SHORT syndrome is extremely rare and has been reported in approximately 25 patients. The SHORT syndrome has clinical manifestations of Short stature, Hyperextensibility of joints and/or inguinal hernia, Ocular depression, Reiger anomaly and Teething delay. Reiger anom…

Inherited: Familial Partial Lipodystrophies, other Types Familial Partial Lipodystrophy- PPAR gamma (Peroxisome Proliferator Activated Receptor- γ) gene mutations Only about twenty patients with FPL due to heterozygous mutation in PPARG have been reported so far. It is either much less com…

Inherited: Congenital Generalized (CGL; Berardinelli-Seip Syndrome) Congenital generalized lipodystrophy is a rare autosomal recessive disorder in which near total absence of the adipose tissue is evident from the birth. It was originally described by Berardinelli and Seip, and since then …

Inherited: Neonatal Progeroid Syndrome (Wiedemann-Rautenstrauch syndrome) Neonatal progeroid syndrome (NPS), also known as Wiedemann- Rautenstrauch Syndrome, is a rare autosomal recessive disorder characterized by accelerated aging and lipodystrophy from birth. Affected children have extreme intr…

Inherited: Familial Partial - Dunnigan Variety (FPLD) Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder which is characterized by variable loss of body fat from the extremities as well as from the truncal region. Individuals, both males and females, of several ge…

Acquired: Partial Lipodystrophy (Barraquer-Simons Syndrome) The onset of acquired partial lipodystrophy usually occurs around 8-10 years of age and is usually preceded by an episode of acute viral infection. It is rare -approximately 250 patients of various ethnic origins have been descri…

Inherited: Familial Partial Lipodystrophy - Mandibuloacral Dysplasia Variety (FPL-MAD) Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicals, abbreviated and club- shaped terminal …