New Oprhanet summaries reviewed by ITHACA experts

Treacher-Collins syndrome

Disease Definition

A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.

The summary has just been updated on Orphanet (ORPHA:861) – December 2020 and reviewed by Pr Corinne COLLET  | ITHACA*

Carpenter syndrome

Disease Definition

A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.

The summary has just been updated on Orphanet (ORPHA:65759) – November 2020 and reviewed by Pr Corinne COLLET  | ITHACA*

Opitz G/BBB syndrome:

Disease Definition

A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.

The summary has just been updated on Orphanet (ORPHA:2745) – November 2020 and reviewed by Pr Alain VERLOES  | ITHACA*