[MIM 616 901]

(DPH1 syndrome, Loucks-Innes syndrome)

Acronym for DEvelopmental Delay with  Short Stature, dysmorphic features, and Sparse Hair.

Extremely rare. Autosomal recessive transmission of a mutation of the DPH1 gene (diphtamide biosynthesis 1) (17p13.3).

Association of:

-        mental retardation (100 %) associated with brain malformations (80 %) (Dandy-Walker, vermis hypoplasia)

-        short stature (100 %)

-        craniofacial abnormalities (100 %) (craniosynostoses70 %) with facial dysmorphism (micrognathia) (100 %), low set ears, hypertelorism

-        ectodermal abnormalities: sparse hair, eyelashes and eyebrows (100 %), nail  (75 %) and fingers (100 %) abnormalities

-        epilepsy  (60 %)

-        cardiac abnormalities (50 %): VSD, tetralogy of Fallot

-        genitourinary abnormalities (30-50 %): horseshoe kidney, hypospadias

Anesthetic implications:

echocardiography, craniosynostosis, risk of difficult intubation, epilepsy

References : 

-        Urreizti R, Mayer K, Evrony, Said E, Castilla-Vallmanya L, Cody NAL,  Plasencia G et al.
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Eur J Human Genet 2020; 28: 64–75

Updated: October 2021