Home > D. Systemic pathology > Genetic and developmental anomalies > Teebi syndrome

Teebi syndrome

MIM.145420

Tuesday 28 August 2007

Teebi described in 1987 an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia.

Synopsis

- prominent forehead
- hypertelorism
- mild exophthalmos
- downslanting palpebral fissures
- depressed nasal bridge
- broad nasal tip
- long philtrum
- natal teeth
- thin upper lip
- everted lower lip
- small chin
- low-set ears
- preauricular fistulas
- short neck
- mild pectus excavatum
- umbilical hernia
- clinodactyly of the 5th fingers
- mild radial deviation of the distal phalanges of the middle fingers
- mild pes adductus
- ectopic kidney
- normal psychomotor development

References

- Koenig R. Teebi hypertelorism syndrome. Clin Dysmorphol. 2003 Jul;12(3):187-9. PMID: #14564158#