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|
|Aplasia of lacrimal and salivary glands|
|Autosomal dominant Robinow syndrome 1|
|Autosomal recessive Robinow syndrome|
|Brain malformations with urinary tract defects|
|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|
|Renal cysts and diabetes (RCAD)|
|Renal dysplasia with hypopituitarism and diabetes|
|Renal tubular dysgenesis|
|Susceptibility to cystic renal dysplasia|
|Syndromic microphthalmia 6|
Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.
Aalfs CM et al. (1996) Further delineation of the acro-renal-ocular syndrome.
Halal F et al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.
Ferrell RL et al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes.
Hayes A et al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.
None (1986) The DR syndrome or the 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.
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.
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.
Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.
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.
Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
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.
Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.
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.
MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.
Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.
Orphanet articleOrphanet ID 959
OMIM.ORG articleOmim 607323
Wikipedia articleWikipedia EN (Duane-radial_ray_syndrome)