Movatterモバイル変換

[0]ホーム

Jump to content

Tooth and nail syndrome

Türkçe

Edit links

From Wikipedia, the free encyclopedia

Medical condition

Tooth and nail syndrome

This condition is inherited in an autosomal dominant manner.
Specialty	Medical genetics

Tooth and nail syndrome (also known ashypodontia with nail dysgenesis,Witkop syndrome, ormucoepithelial dysplasia syndrome)^[1]^[2]^{[page needed]} is a rare disorder, first described in 1965, characterized by nails that are thin, small, and friable, and which may showkoilonychia at birth.^[2]^: 521^[3] It was named after Dr. Carl J. Witkop Jr., who first described it between 1978 and 1982.^[1] It is an autosomal dominant type ofectodermal dysplasia.^[4] Its estimated incidence is 2 in 10,000.^[4]

It is associated withMSX1.^[5]

References

[edit]

^^a ^bGorlin, Robert J.; Cohen, M. Michael; Hennekam, Raoul (2001-09-27).Syndromes of the Head and Neck. Oxford University Press. p. 539.ISBN 978-0-19-974772-6.
^^a ^bFreedberg, et al. (2003).Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.ISBN 0-07-138076-0.
^Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).Dermatology: 2-Volume Set. St. Louis: Mosby. p. 880.ISBN 978-1-4160-2999-1.
^^a ^bDeLuke, Dean M. (2014-09-05).Syndromes of the Head and Neck, An Issue of Atlas of the Oral & Maxillofacial Surgery Clinics. Elsevier Health Sciences. p. 139.ISBN 978-0-323-32313-0.
^Jumlongras D, Bei M, Stimson JM, et al. (July 2001)."A nonsense mutation in MSX1 causes Witkop syndrome".Am. J. Hum. Genet.69 (1):67–74.doi:10.1086/321271.PMC 1226049.PMID 11369996.

External links

[edit]

Classification	D ICD-10:Q82.4 OMIM:189500 MeSH:C536736

Genetic disorders relating to deficiencies oftranscription factor or coregulators

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome
1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(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 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 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 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 contacts

4.2	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