Table 1.
Clinical features of reported Hamamy syndrome patients
| Current study Roukoz et al. [2019] |
Family 1 Hamamy et al. [2007] Bonnard et al. [2012] Banna and Hassona [2018] |
Family 2 Bonnard et al. [2012] Buget et al. [2015] |
Family 3 Guler and Keskin [2014] Duman et al. [2020] |
||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | |
| Patient Details | |||||||||
| Gender | Female | Male | Male | Male | Female | Male | Male | Male | Male |
| Origin | Lebanon | Lebanon | Jordan | Jordan | Jordan | Turkey | Turkey | Turkey | Turkey |
| IRK5 mutation | c.503G>A | c.503G>A | c.498C>A | c.498C>A | c.498C>A | c.448G>C (p.Ala150Pro) | c.448G>C | NR | NR |
| (p.Arg168His) | (p.Arg168His) | (p.Asn166Lys) | (p.Asn166Lys) | (p.Asn166Lys) | (p.Ala150Pro) | ||||
|
| |||||||||
| CNS features | |||||||||
| Developmental delay | + | + | + | + | + | ND | + | NR | NR |
| Intellectual disability | ++ | + | + | + | + | ND | + | NR | NR |
| Unclear speech | Few words | − | + | + | + | ND | + | NR | NR |
|
| |||||||||
| Craniofacial features | |||||||||
| Telecanthus | ++ | ++ | ++ | ++ | ++ | ++ | ++ | NR | NR |
| Brachycephaly | − | − | + | + | + | + | + | NR | NR |
| Craniosynostosis | ? | − | + | + | + | − | − | NR | NR |
| Low posterior hair line | ? | − | + | + | + | + | + | NR | NR |
| Micrognathia | ? | − | + | + | + | − | − | NR | NR |
| Midface prominence | + | + | + | + | + | + | + | NR | NR |
| Prominent forehead | + | − | NR | NR | NR | NR | NR | NR | NR |
| Smooth philtrum | + | + | + | + | + | + | + | NR | NR |
| Broad nasal bridge | + | + | + | + | + | + | + | NR | NR |
| Abnormal nasolacrimal ducts | + | + | + | + | + | ND | + | NR | NR |
| Myopia | ? | Yes, but more | + | + | − | ND | + | NR | NR |
| astigmatism | |||||||||
| Astigmatism | ? | + | NR | NR | NR | NR | NR | NR | NR |
| Blepharophimosis | + | + | NR | NR | NR | NR | NR | NR | NR |
| Sparse eyebrows/eyelashes | +/NR | +/NR | +/NR | +/NR | +/NR | NR/NR | NR/NR | ||
| Sparse hair | + | + | NR | NR | NR | NR | NR | NR | NR |
| Sensorineural hearing loss | + | − | + | + | + | ND | + | NR | NR |
| Low-set ears | ? | + | + | + | + | + | + | NR | NR |
| Abnormal ears | + | + | + | + | + | + | + | NR | NR |
| Thin upper lip | − | + | + | + | + | + | + | NR | NR |
| Everted lower lip | + | + | NR | NR | NR | NR | NR | NR | NR |
| Large mouth | + | + | + | + | + | + | + | NR | NR |
| Worn-out teeth with discoloration | + | + | NR | NR | + | ND | + | + | + |
| Enamel hypoplasia | + | + | + | + | + | ND | + | + | + |
|
| |||||||||
| Skeletal features | |||||||||
| Long bone fractures | + | + | + | + | + | ND | + | NR | NR |
| Pterygium colli/sloping shoulders | − | + | + | + | + | + | − | NR | NR |
| Osteopenia | ? | + | + | + | + | ND | − | NR | NR |
|
| |||||||||
| Genital features | |||||||||
| Inguinal hernia | − | + | + | + | − | + | + | NR | NR |
| Cryptorchidism | NA | + | + | + | NA | + | + | NR | NR |
|
| |||||||||
| Cardiac features | |||||||||
| Intraventricular conduction delay | − | − | + | + | + | ND | + | NR | NR |
| Other cardiovascular defects | Tiny patent ductus arteriosus | Mild mitral regurgitation | Atrial septal defect | Total artrioventricular canal | NR | NR | NR | ||
NR, not reported; ND, not determined due to early death; NA, not applicable; ++, severe; +, present; −, absent.