Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2q14.2
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. Microcephalic osteodysplastic primordial dwarfism type I and Roifman syndrome, the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 226960.1.1 | Saudi Arabia | Male | No | Yes | Lissencephaly; Abnormality of neuronal m... Lissencephaly; Abnormality of neuronal migration; Sloping forehead; Cupped ear; Prominent nose; Hypertelorism; Downslanted palpebral fissures; Acromelia; Aplasia/Hypoplasia of the nails; Generalized hirsutism; Small hand; Short foot; Talipes equinovarus; Hip dislocation; Flat acetabular roof; Knee dislocation; Bowing of the long bones; Atlantoaxial dislocation; Metopic synostosis; Dry skin; Strabismus ; Spasticity  | NR_023343.1:n.55G>A, NR_023343.1:n.116A>T | Heterozygous | Autosomal, Recessive | Shaheen et al. 2019 |