Categories: Ciliopathies




 Inclusion Criteria: A clinical diagnosis of a rare multisystem ciliopathy including oral-facial-digital syndromes, cranioectodermal dysplasia OR an unclassified rare multisystem ciliopathy based on the presence of two or more core ciliopathy features: two or more core features indicative of a ciliopathy: polycystic or ‘bright’ kidneys; cerebellar hypoplasia (especially vermis where […]

Rare multisystem ciliopathy disorders



 Inclusion Criteria:– A confident clinical diagnosis of Joubert syndrome or Joubert syndrome related disorder based on the presence of the characteristic ‘molar tooth sign’ in axial MRI images confirmed by a neuroradiologist experienced in the diagnosis of Joubert syndrome. With or without other supportive features of Joubert syndrome. OR Probable […]

Joubert syndrome


 Inclusion criteria unexplained rod-cone dystrophy/ retinal dystrophy OR at least two of the major diagnostic features associated with Bardet-Biedl syndrome: Obesity Polydacyly Rod-cone dystrophy/ retinal dystrophy/ retinitis pigmentosa Hypogenitalism Renal dysplasia  Exclusion criteria non-syndromic retinitis pigmentosa without features suggestive of rod-cone dystrophy/ cone-rod dystrophy existing molecular confirmation of a diagnosis […]

Bardet-Biedl Syndrome


Inclusion criteria: Evidence of chronic sinopulmonary disease as indicated by symptoms and signs including a life-long, wet sounding cough and nasal symptoms, neonatal respiratory distress and chest radiograph with chronic abnormalities. With or without situs inversus totalis or heterotaxy With or without infertility If over 4 years of age nasal […]

Motile ciliary disorders