FHS is also in the differential, which logically agrees with the thought that the disease is a result of a mutation in SRCAP, as this gene interacts with CBP.

[3] In a study published by the American Journal of Human Genetics in 2012, exome sequencing was used to investigate a group of unrelated individuals with classic features of FHS and identified heterozygous mutations in SRCAP as causative of this disorder.

[10] Each reported mutation was truncating (nonsense or frameshift) and occurred between codons 2,407 and 2,517 in exon 34, resulting in the loss of three C-terminal AT-hook motifs.

All of the patients that carried the mutation also had obvious physical symptoms (i.e., prominent nose, delayed bone age, and short stature).

Those who tested negative for the mutation often had dysmorphic facial features distinct from classical FHS, as well as a formal diagnosis of autism.

[citation needed] From the same group, three individuals whose phenotype most closely resembled FHS carried no mutation on the SRCAP gene.

[11] Until recently, doctors have diagnosed patients with FHS based on clinical observations and how well they fit the disease description, usually occurring in early childhood.

[5] FHS shares some common features with Rubinstein–Taybi (due to overlapping effects of mutations on SRCAP), however cranial and hand anomalies are distinctive: broad thumbs, narrow palate, and microcephaly are absent in Floating-Harbor Syndrome.

[citation needed]Managing symptoms and features of FHS involves maintaining a close watch on the patient's physical as well as mental health.

As discussed in the mechanisms section, though the mutation of SRCAP is a widely accepted indicator of a patient diagnosed with FHS, it is not the cause in every case.