Laryngoonychocutaneous syndrome

Laryngoonychocutaneous syndrome
Classification and external resources
OMIM 245660

Shabbir syndrome (also known as "Laryngo–onycho–cutaneous syndrome") is a cutaneous condition inherited in an autosomal recessive fashion.[1]

It was characterized by Shabbir in 1986.[2][3]

It may be associated with LAMA3.[4]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 712. ISBN 1-4160-2999-0. 
  2. ^ Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 245660
  4. ^ McLean WH, Irvine AD, Hamill KJ, et al. (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12915477. 
Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
Collagen disease

COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)

COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers–Danlos syndrome, types 1 & 2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn

COL8: Fuchs' dystrophy 1

COL9: Multiple epiphyseal dysplasia 2, 3, 6

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Laminin
Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome
Other
see also fibrous proteins
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), trfk