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.

Spondyloepiphyseal dysplasia

A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).

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PMID (PMCID)
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.
11293748	MALE
	Noncompaction of the myocardium associated with Roifman syndrome.
	Mandel K, Grunebaum E, Benson L. Cardiol Young. 2001;11(2):240-3.
	Roifman syndrome is a constellation of antibody deficiency, spondyloepiphyseal dysplasia, facial dysmorphism, growth retardation, and retinal dystrophy.