Townes-Brocks syndrome
MIM.107480 16q12.1
Autosomal dominant disease
Synopsis
craniofacial anomalies
- microcephaly
-
ear anomalies
- overfolding of superior helix
- large ears
- lop ears
- microtia
- satyr ear
- preauricular tags
- preauricular pits
- sensorineural hearing loss
cadiovascular anomalies
- tetralogy of Fallot
- ventricular septal defect
digestive anomalies
- duodenal atresia
- anal stenosis
- anterior placement of anus
- imperforate anus
genital anomalies (genital malformations)
- hypospadias
- bfid scrotum
- prominent midline perineal raphe
unrinary anomalies
- renal hypoplasia (hypoplastic kidneys)
- multicystic kidneys
- Renal dysplasia (dysplastic kidneys)
- bilateral diffuse renal dysplasia
- vesicoureteral reflux
- urethral valves
limb malformations (anomalies of limbs)
- radial ray anomalies
- radial agenesis or radial hypoplasia
- preaxial polydactyly
- anomalies of thumbs
- triphalangeal thumbs
- supernumerary thumbs
- broad thumb
- bifid thumb
- pseudoepiphyses of second metacarpal
- fusion of triquetrum and hamate
- absent triquetrum and navicular bones
- 2-3 finger syndactyly
- 3-4 finger syndactyly
- fusion of metatarsals
- short metatarsals
- absent third toe
- hypoplastic third toe
- fifth toe clinodactyly
- 3-4 toe syndactyly
Etiology
germline mutations in SALL1 coding for a putative transcription factor (MIM.602218)
See also
SALLs (SALL1, SALL2, SALL3, SALL4)
See also
VACTERL association (VATER association)