Teebi type hypertelorism is characterized by a major hypertelorism associated with several other dysmorphic craniofacial features that may or may not be present: prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior hair implantation resembling a widow's peak, neonatal teeth, thin upper lip, everted lower lip, small chin, low-set ears, preauricular fistulas and short neck. It has been reported in about 20 individuals belonging to five distinct families. Different types of eye anomalies have been described, including mild exophthalmos, ptosis (requiring sometimes surgical correction), and iridochorioretinal colobomas. Lipoma of the occipital area and a hypoplastic cerebellar hemisphere were reported in one patient. Besides cranio-facial anomalies, pectus excavatum, cardiac defects (ventricular or atrial septal defect, patent ductus arteriosus) umbilical hernia/small omphalocele, minor anomalies of hands (clinodactyly of the 5th fingers or mild interdigital webbing), pes adductus, and ectopic/cystic kidney, have been described. In males, bilateral cryptorchidism and shawl scrotum have been reported. Psychomotor development is normal. This disorder differs from craniofrontonasal dysplasia by a nasal tip that may be broad but not bifid, the absence of craniosynostosis or abnormalities of the fingernails, and a normal stature. Known multiplex families support autosomal dominant inheritance, but no gene has yet been identified.
Quelle: Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1997. Available on http://www.orpha.net. Accessed 17.04.2014
Lippenanomalien, neonatale Zähne
- Koenig, R.Teebi hypertelorism syndrome.Clin. Dysmorph. 12: 187-189, 2003. PMID 14564158