[MIM 145 420]

(Teebi hypertelorism, brachy-cephalo-fronto-nasal dysplasia)

Prevalence: < 1/106.

Association of:

-        major hypertelorism; ocular anomalies are sometimes associated: ptosis, coloboma, mild exophthalmos

-        broad and prominent forehead

-        down-slanting palpebral fissures, low-set ears

-        broad nasal tip with a depressed nasal edge; thin upper lip, drooping lower lip

-        large eyebrows

-        widow's peak (pointed frontal hairline) (similar to androgenic alopecia that begins in the 2 corners of the hairline at the forehead)

-        presence of neonatal teeth

-        short neck

-        preauricular fistula

-        sometimes: pectus excavatum, cardiac or renal malformation

Anesthetic implications:

cardiac echography; check renal function

References : 

Updated: January 2017