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
  • rectovaginal fistula
  • rectoperineal fistula
  • rectovesical fistula

 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)