MBBS Student

HAMAMY SYNDROME

HAMAMY SYNDROME ( CRANIOFACIAL DYSPLASIA - OSTEOPENIA SYNDROME) *Extremely rare *Autosomal Recessive *Affected gene: IRX5 (responsible for orchestrating cell movements during fetal development) *Clinical features: - Severe Telecanthus( increased distance between medial canthi of eye) - Brachycephaly - Midface prominence - Sparse lateral eyebrow - Upslanting palpebral fissure - Broad nasal bridge - Pointed nasal Tip - Flat filtrum - Anteverted nostrils - Large mouth - Thin upper vermilion border - High Arched Palate - Mild micrognathia - Agenesis of lacrimal punctae - Lacrimal - Salivary apparatus agenesis - Recurrent fractures (Osteopenia) - Mild to moderate Sensory Neural Hearing Loss - Sloping shoulders - Enamel Hypoplasia - Severe Myopia - Protruding ears - Mild intellectual disability - Congenital Cardiac Anomalies + Intraventricular conduction delay - Hypochromic Microcytic Anemia

(Edited)

1 of 1