[MIM 616 651]

(Spondylo-epiphyseal dysplasia - retinal dystrophy - immune deficiency, syndrome)

Extremely rare. Autosomal recessive transmission of a mutation of the RNU4ATAC gene (2q14.2). 

Association of:

-        pre- and postnatal stunting,

-        hypotonia,

-        mild intellectual disability,

-        retinal dystrophy,

-        spondyloepiphyseal dysplasia (see this term): epiphyseal dysplasia, delayed ossification of the epiphyses, vertebral anomalies) and skeletal abnormalities (brachydactyly, clinodactyly of the fifth finger),

-        humoral immunodeficiency, due to the inability to generate specific antibodies and a low level of circulating B lymphocytes.

-        craniofacial dysmorphism: microcephaly, narrow palpebral slits, long and prominent eyelashes, a narrow, tubular and curled nose with hypoplastic wings, a long philtrum and a thin upper lip.

Sometimes: eczema, slight limitation of hip flexion, hypogonadotrophic hypogonadism. One case of myocardial non-compaction (see this term) has been published.

Anesthetic implications:

short stature, microcephaly, antibioprophylaxis

References : 

Updated: November 2018