- Duane-radial ray syndrome
-
Duane-radial ray syndrome Classification and external resources OMIM 607323 DiseasesDB 33688 Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in the arms and hands.
Contents
Presentation
The name of the condition refers to the two elements which most commonly present:
- This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Duane anomaly results from the improper development of certain nerves that control eye movement. This condition limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). As the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.
- Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.
People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and downward-turning foot (a clubfoot), and fused vertebrae.
Related conditions
The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders.
- For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene.[1] Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms.
- The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.
Genetics
Mutations in the SALL4 gene cause Duane-radial ray syndrome. The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they bind to specific regions of DNA and help control the activity of particular genes. Mutations in the SALL4 gene prevent one copy of the gene in each cell from making any protein. It remains unclear how a reduction in the amount of SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions. Duane-radial ray syndrome often is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
References
- ^ Kohlhase J, Schubert L, Liebers M, 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". J. Med. Genet. 40 (7): 473–8. doi:10.1136/jmg.40.7.473. PMC 1735528. PMID 12843316. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735528.
External links
- Duane-radial ray syndrome at NLM Genetics Home Reference
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies (1) Basic domains 1.2: Feingold syndrome · Saethre-Chotzen syndrome
1.3: Tietz syndrome(2) Zinc finger
DNA-binding domains2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1(3) Helix-turn-helix domains 3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)(4) β-Scaffold factors
with minor groove contacts4.2: Hyperimmunoglobulin E syndrome
4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis(0) Other transcription factors 0.6: Kabuki syndromeUngrouped Transcription coregulators see also transcription factors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Transcription factor deficiencies
Wikimedia Foundation. 2010.
