Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Acro-renal-ocular syndrome

Acro-renal-ocular syndrome is an autosomal dominant disorder caused by mutations of the SALL4. Malformations include the radial ray, urogenital system (malrotation, ectopia, horseshoe kidney, hypoplasia, vesico-ureteral reflux, bladder diverticula), and eyes (colobomas, microphthalmia, ptosis, and Duane anomaly).


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.


Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.


MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.


Becker K et al. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.


Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.


Al-Baradie R et al. (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.


Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.


Kohlhase J et al. (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.


Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.


Borozdin W et al. (2004) SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.


Miertus J et al. (2006) A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.


Pierquin G et al. (1991) A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.


None (1986) The DR syndrome or the Okihiro syndrome?


Hayes A et al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.


Ferrell RL et al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes.


Halal F et al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.


Aalfs CM et al. (1996) Further delineation of the acro-renal-ocular syndrome.


Orphanet article

Orphanet ID 959 [^]

OMIM.ORG article

Omim 607323 [^]

Wikipedia article

Wikipedia EN (Duane-radial_ray_syndrome) [^]
Update: April 29, 2019