A very rare syndrome that can also be associated with
cardiac and neurological anomalies. REAR is an acronym that stands for: Renal-Ear-Anal-Radial.
Townes-Brocks Syndrome; Imperforate Anus, Hand, Foot, and
Ear Anomalies; Sensorineural Deafness with Imperforate Anus and Hypoplastic
Thumbs Syndrome; Branchiootorenal-like Syndrome.
Autosomal dominant, total penetrance, variable
expressivity. The gene (SALL1) is mapped on chromosome 16 (16q12.1).
Caused by consequence of a mutation in a gene
coding for a transcription factor.
Association of four signs: anorectal malformations
(80%), hand and feet deformities (50%), external ear abnormalities
(65%), sensorineural deafness (40%).
Features include gastrointestinal signs (duodenal
atresia, imperforate anus, anal stenosis, anterior placement of anus,
rectovaginal/rectoperineal fistula), abnormality of the extremity (radial
ray deformities, broad thumb, bifid thumb, triphalangeal thumb, preaxial polydactyly,
syndactyly, fusion of metatarsals, absent/hypoplastic third toe, fifth toe
clinodactyly, pseudoepiphysis of second metacarpal), ear deformations
(overfolding of superior helix, large ears, preauricular tags, preauricular pits,
microtia satyr ear, sensorineural hearing), cardiovascular anomalies (e.g.,
tetralogy of Fallot or ventricular septal defect), microcephaly (with some cases
of mental retardation), and multiple genitourinarydeformations
(hypospadias, bifid scrotum, prominent midline perineal raphe, hypoplastic kidneys,
vesicoureteral reflux, urethral valves, multicystic kidneys, dysplastic kidneys,
Evaluate cardiac function (clinical,
ECG, echocardiography, radionuclide imaging if necessary); renal function (blood
analysis: kaliemia, creatinine, sodium, abdominal echography, eventually CT scan).
Anesthetic management will be adapted to
both cardiopathy and renal status. Venous access and pulse oximetry can be
more difficult because of extremity deformities. Fluid regimen must be
adapted to renal status. Prophylactic antibiotics must be done in case of
Avoid cardiac-depressive drugs;
prefer drugs with hepatic or plasmatic metabolism. Aminoglycosides are not
contraindicated but must be adapted to renal clearance and
benefit has to be clearly evaluated in case of renal insufficiency and incomplete
deafness. Prophylactic antibiotics in case of cardiopathy as indicated.
Holt-Oram Syndrome: Characterized
by thumb anomaly and atrial septal defect, although abnormality of the upper
extremities can be more extensive in some cases. The thumb may be absent or
may be a triphalangeal, nonopposable, finger-like digit. Upper extremity
phocomelia and ventricular septal defect have been reported in few patients.
Imperforate Anus: A rare abnormality that can occur
alone or as an anomaly of another disorder.
VA(C)TER(L) Association is an acronym for
(V)ertebral anomalies, (A)nal atresia,
(T)racheo(E)sophageal fistula and (R)enal anomalies. Abnormalities are
present at birth. This syndrome is different than the REAR Syndrome.
Devriendt K, Fryns JP, Lemmens F, et al: Somatic mosaicism and variable
expression of Townes-Brocks syndrome. Am J Med Genet 111(2):230, 2002.
Powell CM, Michaelis RC: Townes-Brocks syndrome. J Med Genet
Surka WS, Kohlhase J, Neunert CE, et al: Unique family with Townes-Brocks
syndrome, SALL1 mutation, and cardiac defects. Am J ...