Clinical Guidance

No genotype-phenotype correlations are known.

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Diagnostic Criteria

Suggestive Findings

ROR2-related Robinow syndrome should be suspected in individuals with the following clinical findings and .

Clinical Findings

Craniofacial findings in early childhood :

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Differential Diagnosis

NXN-related Robinow syndrome (OMIM 618529), an autosomal recessive form of Robinow syndrome, was described in three individuals with biallelic NXN pathogenic variants from two unrelated families. All three had classic clinical findings of Robinow syndrome including typical craniofacial features, mesomelic shortening, and brachydactyly . One individual, born to consanguineous parents, was homozygous for a nonsense NXN variant; the two affected sibs in the other family had compound heterozygous NXN pathogenic variants. Note: The NXN protein is a relevant partner in the WNT5A signaling pathway that is intimately involved in Robinow syndrome causation. ROR2 binds to WNT5A and interacts with FZD2.

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ROR2-related Robinow syndrome, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

• Clinical assessment for presence of cleft lip/palate and the need for surgical repair

• Orthodontics consultation as needed for misaligned, crowded teeth

• Clinical and radiographic evaluation of the spine and rib cage to assess the severity of kyphoscoliosis and vertebral and rib anomalies, as these can lead to postural and respiratory complications

• Radiographic documentation of radioulnar synostosis, forearm shortening, and brachydactyly

• Urology consultation in males with cryptorchidism and abnormal penile insertion / penoscrotal transposition for consideration of reconstructive surgery

• Endocrine consultation to assess the possibility of hormone therapy for males with micropenis

• Renal ultrasound examination

• Echocardiogram to evaluate for structural heart defects

• Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Corrective surgeries may be required for the following:

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "ROR2-Related Robinow Syndrome"

Surveillance Guidelines

The following are appropriate:

• Surveillance for evidence of scoliosis until growth is completed

• Dental evaluation every six months to one year or as recommended by the dental professional on initial assessment

• Regular cardiac and renal assessment by respective specialists as needed if abnormalities are identified

Source: GeneReviews — "ROR2-Related Robinow Syndrome"