[MIM 617 616]

(syndrome of intellectual disability-epilepsy-abnormal walking-facial dysmorphia, WDR26 syndrome)

Prevalence: < 1/106 Sporadic mutation or autosomal dominant transmission of a mutation of the WDR26 gene (1q42.11).

Association of multiple anomalies:

-        hypotonia and global developmental delay

-        intellectual impairment, including delayed language acquisition

-        epileptic seizures

-        gait disorders without cerebellar signs

-        craniofacial dysmorphism: coarse features, depressed nasal bridge, anteverted nostrils, wide nasal tip, prominent maxilla and upper lip, wide mouth, gingival abnormalities and widely spaced teeth.

Other reported manifestations include ocular anomalies (strabismus, ptosis), cardiac abnormalities, gastrointestinal problems and autistic-like behavior. MRI may show cerebral abnormalities: thin corpus callosum, white matter abnormalities or dilated ventricles.

Anesthetic implications:

intellectual disability, epilepsy

References : 

-         Cheng SWS, Luk H-M, Lo FMI.
A further case of Skraban-Deardorff syndrome and review of the literature.
Clinical Dysmorphology 2022, 31:79–83

       

Updated: November 2023