Figure 1
Checklist of Floating-Harbor syndrome clinical features to facilitate clinical diagnosis and management_
| Features | Category |
|---|---|
| Characteristic face | mandatory Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category. |
| Language delay | mandatory |
| Short stature | frequent Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category. |
| Delayed bone age | frequent |
| Skeletal anomalies | frequent |
| Intellectual disability | frequent |
| Behavioral problems | recurrent Recurrent and infrequent categories include features that are not required for diagnosis, but further support FHS diagnosis and guide the clinical evaluation, planning and patient care, if present. |
| Eye anomalies | recurrent |
| Ear anomalies | recurrent |
| Dental issues | recurrent |
| Genitourinary malformations | infrequent Recurrent and infrequent categories include features that are not required for diagnosis, but further support FHS diagnosis and guide the clinical evaluation, planning and patient care, if present. |
| Cardiac malformations | infrequent |
| Gastrointestinal features | infrequent |
| Seizures | infrequent |
| Hypothyroidism | infrequent |
Comparison of clinical features reported in the literature (cases with a SRCAP gene mutation) and in our present patient_
| Features | Literature | This Study | |||
|---|---|---|---|---|---|
| References | [4] | [5] | [6] | [8] | |
| Facial gestalt | 13/13 | 6/6 | 52/52 | 5/5 | [+] |
| Language delay | 13/13 | 6/6 | 52/52 | 5/5 | [+] |
| Growth deficiency | 13/13 | 6/6 | 39/52 | 5/5 | [+] |
| Delayed bone age | 13/13 | 6/6 | 23/25 | 4/5 The X-ray for bone age was not available in one case. | [+] |
| Skeletal anomalies | 10/13 | 6/6 | [+] The authors report on different skeletal anomalies: broad thumb in 10/17 patients, broad toes, brachydactyly, broad fingertips (described as frequent), clavicular anomalies (six patients), hip dysplasia (four cases). | 5/5 | [+] |
| Intellectual disability | 6/13 | 3/6 | 37/43 Patients with learning difficulties. | 4/5 | [+] |
| Behavioral problems | NR | NR | [+] The authors report obsessive tendencies, rigid mannerisms (7/25) and ADHD (9/32). | 3/5 | [+] |
| Eye anomalies | 4/13 | 2/6 | 13/43 | 0/5 | [–] |
| Ear anomalies | 4/13 | 0/6 | 15/52 | 2/5 | [–] |
| Dental issues | 4/13 Not reported in eight cases. | NR | 21/38 | 1/5 | [+] |
| Genitourinary malformations | 8/13 | 1/6 | 5/24 | 0/5 | [+] |
| Cardiac malformations | 3/13 | 3/6 | 3/52 | 0/5 | [–] |
| Gastrointestinal malformations | 2/13 | 0/6 | 5/24 | 0/5 | [–] |
| Seizures | 0/13 | 1/6 | 6/52 | 0/5 | [–] |
| Hypothyroidism | NR | 0/6 | 2/52 | 0/5 | [–] |