Roifman syndrome

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

Immunodeficiency

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.


Total: 5

                       


(per page)
PMID (PMCID)
29263834
(5677950)
 OTHER
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.
Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM.
NPJ Genom Med. 2017;2:23.
Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene.
21977988
 MIXED_SAMPLE Infant, Newborn
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Gray PE, Sillence D, Kakakios A.
Int J Immunogenet. 2011;38(6):501-5.
Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency.
21977988
 MIXED_SAMPLE Infant, Newborn
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Gray PE, Sillence D, Kakakios A.
Int J Immunogenet. 2011;38(6):501-5.
This finding in combination with other features such as retinal dystrophy, hepatic and renal disease suggests that the gene which is affected in Roifman syndrome may be involved with the function of nonmotile cilia and that Roifman syndrome may be the first example of a ciliopathy with associated immunodeficiency.
21977988
 MIXED_SAMPLE Infant, Newborn
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Gray PE, Sillence D, Kakakios A.
Int J Immunogenet. 2011;38(6):501-5.
This finding in combination with other features such as retinal dystrophy, hepatic and renal disease suggests that the gene which is affected in Roifman syndrome may be involved with the function of nonmotile cilia and that Roifman syndrome may be the first example of a ciliopathy with associated immunodeficiency.
16901296
 MALE Child
The cognitive and behavioural phenotype of Roifman syndrome.
de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D.
J Intellect Disabil Res. 2006;50(Pt 9):690-6.
Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism.