Penetrance

Penetrance is thought to be 100%, as all individuals with pathogenic AFF4 variants demonstrate clinical symptoms.

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"

Diagnostic Criteria

No consensus clinical diagnostic criteria for AFF4-related CHOPS syndrome have been published.

Suggestive Findings

AFF4-related CHOPS syndrome should be considered in probands with the following clinical and imaging findings and family history.

Clinical findings

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"

Differential Diagnosis

Genetic disorders with facial features overlapping those of AFF4-related CHOPS syndrome, developmental delay, and short stature of interest in the differential diagnosis of AFF4-related CHOPS syndrome are listed in .

Table 3.

AFF4-Related CHOPS Syndrome: Genetic Differential Diagnosis

Gene(s)/ GeneticMechanism | Disorder | MOI | Features Similar to AFF4-Related CHOPS Syndrome | Features Distinct from AFF4-Related CHOPS Syndrome

AFF3 | KINSSHIP syndrome (OMIM 619297) | AD | Short stature, characteristic facial features (incl coarse facial features), skeletal features, developmental delay | Not assoc w/obesity

ANKRD11 PV or16q24.3 deletionincl ANKRD11 | KBG syndrome | AD | Characteristic facial features, short stature, developmental delay | Macrodontia

ASXL1

| Bohring-Opitz syndrome | AD | Characte...

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"

Management Guidelines

No clinical practice guidelines for AFF4-related CHOPS syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with AFF4-related CHOPS syndrome, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Table 4.

AFF4-Related CHOPS Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Development

| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval

• Eval for early intervention/ special education

Neurobehavioral/

Psychiatric

| Neuropsychiatric eval | For persons age 12 mos: screening for issues incl disruptive behaviors food-seeking behaviors

Constitutional

| Measurement of growth parameters |

Endocrine

| Eval of short stature/ obesity | Consider referral to endocrinologist.

Respiratory

| • Assessment for respiratory issues

• Referral to pediatric pulmonologist otolaryngologist for those w/chronic lung disease, tracheomalacia, /or laryngomalacia

|

Cardiovascular

| Echocardiogram | To assess for congenital heart defects

Musculoskeletal

| Orthopedics/ physical medicine rehab/ PT OT eval | To incl assessment of:

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"

Therapies Under Investigation

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

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. AFF4-Related CHOPS Syndrome: Recommended Surveillance

Source: GeneReviews — "AFF4-Related CHOPS Syndrome"