[MIM 218 330, 613 610, 614 099, 614 378] see also Nephronophthisis

(cranio-ectodermal dysplasia)

Very rare. Autosomal recessive transmission. Heterogeneous disease which belongs to the group of the ciliopathies: mutation of one of the genes coding of the complex A involved in intraflagellar transport: IFT122 gene on 3q22.3, IFT43 gene on 14q24.3, WDR19 gene on 4p14 and WDR35 gene on 2p24.1.

Association of

-        skeletal defects: narrow thorax, pectus excavatum, sagittal craniosynostosis  with dolichocephaly, frontal bossing, syndactyly, short limbs and  fingers, hyperextensible joints

-        ectodermal defects: defects of the teeth (hypodontia, microdontia, anomaly of enamel), sparse scalp hair, nail abnormalities

-        facial dysmorphism: hypotelorism, epicanthic folds, micrognathia, anteverted nostrils

-        a juvenile nephronophthisis with rapid deterioration of the renal function (70 %)

-        liver fibrosis (50 %); sometimes cholestasis or cirrhosis

-        ocular anomalies: retinitis pigmentosa, nystagmus, myopia

Frequent respiratory infections.

Causes of death: respiratory before the age of 2 years, renal thereafter.

Anesthetic implications:

chronic renal failure, visual impairment, chronic respiratory infections; check the liver function, fragile teeth

References : 

-        Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K et al. 
Sensenbrenner syndrome (cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including 2 new patients. 
Am J Med Genet A 2013; 161A: 2762-76.

Updated: September 2018