[MIM 616 803]

Prevalence: < 1/106. Autosomal dominant transmission of a mutation of the SOX5 gene (12p12). 

Clinical presentation:

-         intellectual disability characterized by developmental delay: hypotonia, language delay (80 %) and gait delay

-         facial dysmorphism (69 %): frontal humps, epicanthus, strabismus, depressed nasal root, bulbous nasal tip, short philtrum, small chin, ear anomalies, micrognatia, malpositioned teeth, elongated facies

-         ocular malformations (60 %): myopia, strabismus, optic nerve hypoplasia or atrophy

-         behavioral disorders (69 %): stereotypies, agitation, anxiety, autism spectrum disorder, hyperactivity, insomnia 

-         skeletal anomalies (33 %): scoliosis, clinodactyly, pectus carinatum, fusion of cervical vertebrae

-         epileptic phenomena (22 %). 

Anesthetic implications: 

fragile teeth, check neck mobility, micrognathia, mental retardation

References : 

-        Lian R, Wu G, Xu F, Zhao S, Li M, Wang H, Jia T, Dong Y.
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
Orphanet Journal of Rare Diseases 2024 ; 19:281. doi.org/10.1186/s13023-024-03279-7

Updated: August 2024