Craniofrontonasal syndrome

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Craniofrontonasal syndrome
Classification and external resources
OMIM	304110

Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism (far apart eyes), whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton.

Most cases arise from mutations in the gene for EFNB1.^[1]^[2]^[3]

[edit] References

^ Wieland I, Weidner C, Ciccone R, et al. (December 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clin. Genet. 72 (6): 506–16. doi:10.1111/j.1399-0004.2007.00905.x. PMID 17941886. http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2007&volume=72&issue=6&spage=506.
^ Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (Jun 2004). "Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome". Proc Natl Acad Sci U S A 101 (23): 8652–7. doi:10.1073/pnas.0402819101. PMC 423250. PMID 15166289. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=423250.
^ Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P (Jun 2004). "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome". Am J Hum Genet 74 (6): 1209–15. PMC 1182084. PMID 15124102. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182084.

[edit] External links

Craniofrontonasal dysplasia at NIH's Office of Rare Diseases
Craniofrontonasal dysplasiaTeebi type at NIH's Office of Rare Diseases

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

Sex linkage: X-linked disorders

X-linked recessive

Immune	Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine	Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch–Nyhan syndrome mineral: Menkes disease/Occipital horn syndrome

Nervous system	X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic	Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth	AMELX Amelogenesis imperfecta

No primary system	Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

v t e Extracellular ligand disorders

Cytokine	EDA Hypohidrotic ectodermal dysplasia · Camurati-Engelmann disease

Ephrin	Craniofrontonasal syndrome

WNT	Tetra-amelia syndrome

TGF	OFC 11

Fas ligand	Autoimmune lymphoproliferative syndrome 1B

Endothelin	EDN3 (Waardenburg syndrome IVb, Hirschsprung's disease 4)

Other	DHH (DHH XY gonadal dysgenesis) · BMP15 (Premature ovarian failure 4) · TSHB (Congenital hypothyroidism 4)

see also intercellular signaling peptides and 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

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Craniofrontonasal syndrome

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