Described in 1972, the syndrome of Townes-Brocks is a associating Syndrome:

• Of the anal anomalies
• Of the auricular anomalies
• Of the anomalies of the hands
• Of the disorders of hearing

Description

The initial description of 1972 of Townes-Brocks relates to six cases. The described anomalies are:

• anal Anomalies
• Imperforation anal
• anal Prolapsus
• Dent
• Inch triphalangic or supernumerary
• Fusion of the tarsus S
• auricular Anomalies
• malformés Appendix prétragien
• Helix
• Sténose of auditory canal external
• Deafness
  

Since, renal anomalies (mainly hypoplasy) and a radial anomaly came to supplement the syndrome.
The existence of a congenital Cardiopathie with type of Tetralogy of Hand lantern or communication inter ventricular is sometimes notée.
The intelligence is preserved.

Diagnosis

One needs at least two criteria of the definition to speak about syndrome of Townes-Brocks. Because of the described anomalies one can discuss:

• Syndrome of Holt-Oram
• Syndrome VACTERL
• Syndrome TAR

Sources

• Site in French of information on the orphan rare diseases and drugs
• Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 107480 == Références ==

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