Hypertelorism, Teebi Type

Alternative Names

  • Brachycephalofrontonasal Dysplasia
  • Teebi Syndrome
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

145420

Mode of Inheritance

Autosomal dominant

Description

Teebi type hypertelorism is an autosomal dominant disorder which is differentiated from other types of hypertelorism by the numerous correlated dysmorphic craniofacial characteristics that might or might not be present in all patients. Those features include prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior hair implantation coinciding a widow's peak, neonatal teeth, thin upper lip, everted lower lip, small chin, low-set ears, preauricular fistulas and short neck. Teebi type hypertelorism has been described only in 20 patients so far belonging to five diverse families. Various eye abnormalities were portrayed in patients comprising ptosis (occasionally requires surgical correction), mild exophthalmos, and iridochorioretinal colobomas. It varies from craniofrontonasal dysplasis by a nasal tip that might appear to be broad but not bifid, normal stature, and the lack of craniosynostosis or anomalies of the fingernails. This disorder appears during infancy with a prevalence of <1/1000,000.

Molecular Genetics

No genes are yet known to cause the occurrence of Teebi type hypertelorism, but the identified complex families supported an autosomal dominant inheritance.

Epidemiology in the Arab World

View Map

Other Reports

Iraq

Teebi (1987) presented 16 Iraqi patients including 9 males and 7 females in four generations suffering from a novel autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia but without evidence of craniosynostosis or nail anomalies and with normal or somewhat broad nasal tip at the Maternity Hospital in Kuwait. The 16 cases appeared to segregate in five sibships and involved male to male transmission with full expression in males and females. Teebi (1987) revealed that the proposita and her father demonstrated normal chromosomes.

Kuwait

[See: Iraq > Teebi, 1987].

© CAGS 2022. All rights reserved.