Temtamy syndrome

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Total: 1

                       


(per page)
PMID (PMCID)
14564155
 FEMALE
Temtamy-like syndrome associated with translocation of 2p24 and 9q32.
Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE.
Clin Dysmorphol. 2003;12(3):175-7.
We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas.