The Acro-Renal-Ocular Syndrome (AROS) is one of the phenotypes associated with mutations in SALL4.


Chromosome: 20q13.2

Gene: SALL4 (Sal-like protein 4)


Inheritance: autosomal dominant


Key features:

(1) radial ray anomalies

(2) urinary tract abnormalities affecting the kidney or bladder

(3) ocular coloboma, ptosis and/or Duane anomaly


Radial ray anomaly may involve one or more of the following:

(1) thenar hypoplasia

(2) hypoplasia or aplasia of the thumbs

(3) hypoplasia or aplasia of the radii

(4) shortening and radial deviation of the forearm

(5) triphalangeal thumbs

(6) preaxial polydactyly with duplicaton of the thumb


Urinary tract abnormalities may involve one or more of the following:

(1) malrotation

(2) ectopia

(3) hoarseshoe kidney

(4) hypoplasia

(5) vesico-ureteral reflux

(6) bladder diverticula


Duane anomaly consists of:

(1) unilateral or bilateral limitation in eye abduction secondary to abnormal innervation of the lateral rectus muscle

(2) retraction of the globe

(3) narrowing of the palpebral fissue on adduction

(4) absence of cranial nerve VI (abducens nucleus and nerve) with a branch of cranial nerve III (oculomotor nerve) innervating the lateral rectus muscle


The patient may also have other features seen in SALL4-related disorders (see below).


Differences from the Duane-Radial Ray syndrome include: coloboma and the urinary tract abnormalities


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