The Comprehensive Ciliopathy Center at Penn includes a team of clinical genetics doctors, genetic counselors and expert specialty care doctors with experience and interest in diagnosing and managing patients with ciliopathy conditions. We are dedicated to the comprehensive evaluation and management of children and adults with a known or suspected diagnosis of ciliary disease, and can provide coordinated multidisciplinary care including diagnosis, genetic testing, education, genetic counseling, management and support.
The primary cilium is a microscopic projection of the cell surface found on nearly every human cell type. It acts as an antenna for the reception and integration of signals from the environment. This antenna is critically important to human health, both during development and in adulthood. A number of genetic disorders, called ciliopathies, are the result of dysfunction of the primary cilium. Patients with ciliopathies can experience a wide spectrum of differences, typically including at least some of the following:
- Chronic/cystic kidney disease
- Extra fingers/toes
- Liver fibrosis and/or biliary atresia
- Malformations of parts of the brainstem and cerebellum
- Obesity/uncontrollable appetite
- Retinal degeneration
- Situs inversus/heterotaxy (the atypical placement of the internal organs on the wrong side of the body)
A number of different genetic syndromes are now classified as ciliopathies. The ciliopathy syndromes include:
- Alström syndrome
- Asphyxiating thoracic dysplasia (Jeune syndrome)
- Autosomal dominant polycystic kidney disease (ADPKD)
- Bardet-Biedl syndrome
- Joubert syndrome
- Leber congenital amaurosis/Retinitis Pigmentosa
- McKusick Kaufman syndrome
- Meckel–Gruber syndrome
- Nephronophthisis
- Orofaciodigital syndrome
- Primary ciliary dyskinesia/Kartagener syndrome
- Senior–Løken syndrome
- Sensenbrenner syndrome/cranioectodermal dysplasia
- Short rib–polydactyly syndrome
- Varadi–Papp syndrome