[MIM 615 009]

(Intellectual development development disorder, autosomal dominant 17, MRD 17)

Prevalence: < 1/106. Single sporadic (c.607C>T) gain-of-function mutation of the PACS1 gene (11q13.1), coding for a protein involved in the cranial neural crest cells migration.

Associations of:

-        developmental delay: language delay, autism spectrum disorders, obsessive-compulsive disorders

-        balance disorders

-        hypotonia, feeding problems in early childhood (gastrostomy)

-        facial dysmorphism: hypertelorism, epicanthus, thick eyebrows, downslanting palpebral fissures, anteverted nostrils, large, low-set ears, bulbous nasal tip

-        cardiac anomalies: ASD, VSD, coarctation of the aorta

-        genitourinary anomalies: cryptorchidism

-        epilepsy (50 %)

Anesthetic implications:

echocardiography, epilepsy, behavioral disorders.

References : 

-        Van Nuland A, Reddy T, Quassem F, Vassalli J-D, Berg AT.
PACS1‑Neurodevelopmental disorder: clinical features and trial readiness.
Orphanet J Rare Dis 2021 ; 16:386 doi.org/10.1186/s13023-021-02001-1

-        Espolaora JGA, Perronea E, Silvaa MFB, Sobreirab NLM, Wohlerb E, Virmonda LA. 
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome.
Clinical Dysmorphology 2023 ; 32:172-4

Updated: November 2023