OMIM®:
57
Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients (Farach et al., 2018; Shelihan et al., 2018).
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1; 210710) and Roifman syndrome (RFMN; 616651), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene. (226960) (Updated 08-Dec-2022)
MalaCards based summary:
Lowry-Wood Syndrome, also known as lws, is related to roifman syndrome and microcephalic osteodysplastic primordial dwarfism, type i. An important gene associated with Lowry-Wood Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear). Affiliated tissues include bone, and related phenotypes are microcephaly and short stature
GARD:
19
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Orphanet:
58
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Wikipedia:
75
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by... more...
Rare bone diseases 
