Figure 1.

Figure 1.

Facial features in individuals with CTNNB1 neurodevelopmental disorder

Common findings are a bulbous nasal tip, thin upper lip, small alae nasi, and long and smooth philtrum. Less common findings are upslanting palpebral fissures and hypotelorism. Note thin, fair, or sparse hair, abnormal hair pattern, and fair skin complexion.

Patient 1. Chinese male. A: age 8 months; B: age 24 months; C: age 18 years, 3 months; D: age 20 years, 11 months

Patient 2. Chinese female. A: age 1 year, 1 month with her affected mother (age 32 years); B: age 5 years, 1 month

Patient 3. Chinese female. A: 1 year, 4 months; B: 4 years

Patient 4. White American female. 2 years, 11 months

Patient 5. Chinese male. 3 years, 7 months

Patient 6. Male. 4 years

Patient 7. Chinese female. A: 4 years, 4 months, B: 6 years, 10 months

Patient 8. German and Irish male. 5 years

Patient 9. White Western European female. 5 years, 2 months

Patient 10. Chinese male. 5 years, 3 months

Patient 11. White female. A: 9 years; B: 10 years; C: 11 years; D: 12 years; E: 13 years

Patient 12. Male. 9 years

Patient 13. Female. 14 years

Patient 14. European male. 16 years

Patient 15. White European male. 18 years

Patient 16. Thai female. 19 years

Reprinted with permission from Ho et al [2022]

From: CTNNB1 Neurodevelopmental Disorder

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