Chromosome: 20q13.2
Gene: SALL4 (Sal-like protein 4)
Inheritance: autosomal dominant
Key features seen in DRRS or AROS:
(1) radial ray anomalies
(2) urinary tract abnormalities affecting the kidney or bladder
(3) ocular coloboma, ptosis and/or Duane anomaly
Other findings may include:
(1) microphthalmia
(2) cataract
(3) optic disc hypoplasia
(4) shortening of the ulna
(5) syndactyly
(6) shortened humeri
(7) hypoplasia of the deltoid muscles
(8) renal agenesis
(9) sensorineural and/or conductive hearing loss
(10) abnormal pinnae
(11) small ears
(12) slit-like opening of the auditory canals
(13) atrial septal defect (ASD)
(14) ventricular septal defect (VSD)
(15) tetralogy of Fallot
(16) anal stenosis
(17) imperforate anus
(18) epicanthal folds
(19) ocular hypertelorism
(20) hemifacial microsomia
(21) flat nasal bridge
(22) talipes deformity
(23) tibial hemimelia
(24) syndactyly of toes
(25) fused vertebrae
(26) pituitary hypoplasia
(27) growth hormone deficiency with growth retardation
