Verheij syndrome. VRJS. Chromosome 8q24.3 Deletion Syndrome.
Incidence
This is a rare autosomal dominant disorder with incidence believed to be less than 1 in 1,000,000.
Clinical Characteristics
Verheij syndrome (VRJS) can be caused by a heterozygous mutation in the PUF60 gene on chromosome 8q24.3. The same VRJS phenotype results from a contiguous gene deletion involving the PUF60 and SCRIB genes on 8q24.3.
VRJS is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include renal defects, seizures, and cardiac defects. In addition, some may have microcephaly.
Dysmorphic features include plagiocephaly, anteverted nares, short columella, high palate, micrognathia, low-set, and posteriorly rotated ears, short neck, and coloboma, long philtrum, thin upper lip, broad nasal root, preauricular pits, bitemporal narrowing, flaring of eyebrows, and narrow almond-shaped palpebral fissures. Bilateral microphthalmia and bilateral optic nerve hypoplasia may be present.
There is striking phenotypic variability among patients, making the phenotype difficult to recognize. Minor developmental abnormalities of the distal limbs (e.g., clinodactyly, brachydactyly, preaxial polydactyly, syndactyly, and metatarsal fusion) may also be present. Renal abnormalities including unilateral renal agenesis, renal hypoplasia, polycystic kidneys, and ectopic renal fusion. Vertebral abnormalities, such as sacral dysplasia, coccyx agenesis, vertebral fusion, hemivertebrae, joint laxity,or hip dislocation, and scoliosis may be present. Feeding difficulties and recurrent respiratory infections may be seen in this condition.
Brain MRI may reveal hypoplastic corpus callosum, delayed myelination, cerebral atrophy, and white matter abnormalities.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Verheij syndrome (VRJS) can be caused by a heterozygous mutation in the PUF60 gene on chromosome 8q24.3. The same VRJS phenotype results from a contiguous gene deletion involving the PUF60 and SCRIB genes on 8q24.3.