Duane-radial ray syndrome

Preferred Label : Duane-radial ray syndrome;

Symbol : DRRS;

CISMeF acronym : DRRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Duane anomaly with radial ray abnormalities and deafness; Dr syndrome; Okihiro syndrome; Acrorenoocular syndrome;

Description : Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see 126800), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus. The Holt-Oram syndrome (142900), caused by mutation in the TBX5 gene (601620) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sal-like 4 gene (SALL4, 607323.0001);

Prefixed ID : #607323;

Details

Origin ID

607323;

UMLS CUI

C1623209;

Automatic exact mappings (from CISMeF team)
- Okihiro syndrome [ICD-11 More detail]
- Okihiro syndrome due to 20q13 microdeletion [ORDO Disease]
- SALL4 wt Allele [NCIt concept]
CISMeF manual mappings
- Acrorenoocular syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acro-renal-ocular syndrome [ORDO Disease]
- Duane-radial ray syndrome [DO Concept]
- Duane-radial ray syndrome (disorder) [SNOMED CT concept]
- Okihiro Syndrome [Disease (Nov.)]
- Okihiro Syndrome [MeSH concept]
- Okihiro syndrome [ORDO Disease]
- duane retraction syndrome [MeSH Descriptor]
DO Cross reference
- Duane-radial ray syndrome [DO Concept]
False automatic mappings
- Retinal detachment with retinal break [ICD-10 Sub-category]
Genes related to phenotype
- Sal-like 4 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Aganglionic megacolon [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Aplasia of metacarpal bones [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Crossed fused renal ectopia [HPO term]
- Duane anomaly [HPO term]
- Epicanthal folds, mild [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Facial palsy [HPO term]
- Fused cervical vertebrae [HPO term]
- Globe retraction and deviation on adduction [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Impaired convergence [HPO term]
- Impaired ocular abduction [HPO term]
- Impaired ocular adduction [HPO term]
- Iris coloboma [HPO term]
- Microphthalmia [HPO term]
- Optic disc hypoplasia [HPO term]
- Palpebral fissure narrowing on adduction [HPO term]
- Pectoralis hypoplasia [HPO term]
- Pes planus [HPO term]
- Preaxial polydactyly [HPO term]
- Radial deviation of the hand [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Renal malrotation [HPO term]
- Retinal coloboma [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short humerus [HPO term]
- Short thumb [HPO term]
- Slit-like opening of the exterior auditory meatus [HPO term]
- Small thenar eminence [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
- Upper limb muscle hypoplasia [HPO term]
- Vascular dilatation [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Acro-renal-ocular syndrome [ORDO Disease]
- Okihiro syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acro-renal-ocular syndrome [ORDO Disease]
- Acrorenoocular syndrome (disorder) [SNOMED CT concept]
- Duane-radial ray syndrome (disorder) [SNOMED CT concept]
- Okihiro Syndrome [MeSH concept]
- Okihiro syndrome [ORDO Disease]

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