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Mandibulofacial dysostosis

DA: 287

Developmental anomaly information

Definition: Treacher Collins Syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears. This condition is a result of a defect of the first arch during development


  • Franceschetti-Zwahlen-Klein syndrome
  • Treacher Collins Syndrome)

Developmental anomaly parent: Facial dysmorphism

Topology: Human body > Head and neck > Head > Face

System: Human body > musculoskeletal system.

Developmental anomaly category: Anomaly of underdevelopment or overdevelopment

Case records MDB501

OMIM: 154500

DiseaseDB: 13268

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2008-12-22 14:34:54 by farideh

Created: 2008-05-28 02:00:00 by phsaw

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