CATIFA syndrome, associated with mutations in the RIC1 gene, manifests through a variety of clinical features observed among the 8 known cases reported to date. The symptoms include:
• Craniofacial anomalies:
o Elongated face (8/8)
o Short, broad upturned nose with anteverted nares (8/8)
o Long philtrum (8/8)
o Cleft lip/palate (5/8)
o Microcephaly (4/8)
• Dental issues:
o Tooth eruption and alignment deficits (8/8)
o Extensive caries (8/8)
• Neurological symptoms:
o Global developmental delay (8/8)
o Intellectual disability (8/8)
o Motor, speech, and cognitive deficits (8/8, varying from mild to severe)
o Behavioral abnormalities / ADHD (males, 4/4)
o Visual impairment due to cataracts (8/8)
o Strabismus (8/8)
o Poor visual tracking (8/8)
• Other symptoms:
o Sleep disturbances (5/8)
o Bronchial asthma (5/8)
o Small ears (5/8)
o Clumsy, hypotonic gait (8/8)