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International Birth Defects Information Systems

International Birth Defects Information Systems


Topics: | Neurofibromatosis | ACN Neurofibromin 2 | Acoustic Neurofibromatosis | Acoustic Schwannomas | BAER | Acoustic Neurinoma | Bilateral Acoustic Neurofibromatosis | NF-1 | Elephant Man Disease | Meningioma 1 | Merlin MERLIN Protein | MN1 | Neurilematosis | Neurofibromatosis | Neurofibromin | NF-2 | NF-3 | NF-6 | Peripheral Type | Recklinghausen Disease | Segmental Type | Von Recklinghausen Disease | Watson Syndrome |

Related Topics : | Bibliography | Cafe - Au - Lait Spots, Multiple | Cardiomyopathic Multiple Lentigines Syndrome | Elattoproteus Syndrome | Fibromuscular Dysplasia of Arteries | Hemihypertrophy | Leopard Syndrome | Lentiginosis | Meningioma 1 | Partial Gigantism | Pheochromocytoma | Proteus Syndrome | Pulmonic Stenosis with Cafe - Au - Lait Spots | Scoliosis |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish | Ukrainian |

Notes per Visitors  
... a complex of diverse disorders due to diverse genetic causes ...

Neurofibromatosis, Type I; NF1
Victor A. McKusick, OMIM, Johns Hopkins University, June 13, 2007
Visitor Comments [for Professionals mainly]
Alternative titles

Health Supervision for Children With Neurofibromatosis
Joseph H. Hersh, MD and Committee on Genetics, American Academy of Pediatrics, PEDIATRICS Vol. 121 No. 3 March 2008, pp. 633-642
Visitor Comments [for Professionals mainly]
Policy Statement of the American Acedemy of Pediatrics ... Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development. Some features of neurofibromatosis 1 are present at birth, and others are age-related abnormalities of tissue proliferation, which necessitate periodic monitoring to address ongoing health and developmental needs and to minimize the risk of serious medical complications. This clinical report provides a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of neurofibromatosis 1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the growth, development, and health of an affected child.

What is Neurofibromatosis
DNA Learning Center
Visitor Comments [Support Groups]"... easy to understand website ... for patients ..."

Neurofibromatosis - NoonanSyndrome
Victor A. McKusick, OMIM, Johns Hopkins University, June 5, 2006
Visitor Comments [for Professionals mainly]
Alternative titles
... Patients with neurofibromatosis ... Had manifestations of the Noonan syndrome ... Including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness ...

Victor A. McKusick, OMIM, Johns Hopkins University, April 2, 2007
Visitor Comments [for Professionals mainly]
Alternative titles
Neurilemmomatosis or schwannomatosis has been reported mainly form Japan ... Characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of NF1 or NF2 ... The tumors consists of Schwann cells ... 7 patients with neurilemmomatosis using DNA markers for different regions of chromosome 22 ... Allele losses in 3 of 7 tumors form 7 patients with a probe for the NF2 region and the germline mutations in 2 of 3 tumors from the same 3 patients ...

Neurofibromatosis, Familial Intestinal; NF 3B
Victor A. McKusick, OMIM, Johns Hopkins University, April 7, 1998
Visitor Comments [for Professionals mainly]
Neurofibromata of the intestine are a recognized though rare feature of von Recklinghausen neurofibromatosis... Sporadic cases of multiple intestinal neurofibromatosis without cutaneous feature of con Recklinghausen disease have been observed ...

Cafe - Au - Lait Spots, Multiple or NF-6
Victor A. McKusick, OMIM, Johns Hopkins University, February 2, 2005
Visitor Comments [for Professionals mainly]
Although multiple cafe - au - lait spots are the diagnostic hallmark of neurofibromatosis-1, they have been observed in families in which there have been no other changes of NF1 ...

Victor A. McKusick, OMIM, Johns Hopkins University, October 2, 2006
Visitor Comments [for Professionals mainly]
... This tumor occurs not only as a part of several syndromes, e.g., neurofibromatosis I, von Hippel - Lindau syndrome, and multiple endocrinenoeplasia types II-A and II-B, but also as an isolated disorder due to mutation in the RET gene or the MEN2 gene ...

Watson Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, June 11, 1999
Visitor Comments [for Professionals mainly]
Alternative titles
Described 15 persons from 2 generations of each of 3 families with pulmonic stenosis (8/15), cafe - au - lait spots (15/15) and low normal or dull intelligence (12/15) ... male-to-male transmission ... no signs of neurofibromata. Parington et al. describe a father (aged 57 years),his daughter (aged 20) and his son (aged 18), all with pulmonary stenosis, cafe - au - lait spots, and dull intelligence ...

Meningioma 1 or MN-1
Victor A. McKusick, OMIM, Johns Hopkins University, October 4, 2002
Visitor Comments [for Professionals mainly]
Alternative titles
Some meningiomas result from mutation in the NF2 tumor suppressor gene ... Some appear to arise from mutations in the SIS oncogene; both of these loci are on chromosome 22... Familial multiple meningioma is determined by a locus distinct from either NF2 or SIS ...

Fibromuscular Dysplasia of Arteries
Victor A. McKusick, OMIM, Johns Hopkins University, May 30, 2001
Visitor Comments [for Professionals mainly]
Fibromuscular dysplasia is an arterial occlusive disease of children or young adults that produce stroke, hypertension, claudication or myocardial infarction. The carotid, cerebral, renal, mesenteric, coronary or iliac arteries may be affected ... In 8 families only the proband was affected... In the other 12 families, between 1 and 11 other relatives were thought to have been affected ...Fibromuscular hyperplasia of the renal arteries leading to hypertension occurs almost only in females ... Von Recklinghausen neurofibromatosis should be suspected as an occasional 'cause' ...

Proteus Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, November 30, 2004
Visitor Comments [for Professionals mainly]
Alternative titles
Wiedemann et al. described a 'new' syndrome in 4 unrelated boys... They named the syndrome for the Greek god Proteus, 'the polymorphous,' who could change his shape at will to avoid capture ... Might be confused with the Klippel - Trenaunay - Weber syndrome ... Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible ... Scleral tumor. The observations were interpreted as supporting the hypothesis of somatic mosaicism ...

Leopard Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, April 19, 2007
Visitor Comments [for Professionals mainly]
Alternative titles
cardiac changes associated with generalized lentingo in a mother and her son and daughter ... Generalized lentigines were described ... Polani and Moynahan ... Left-sided obstructive cardiomyopathy ... Progressive cardiomyopathic lentiginosis was the term they proposed ... LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al.: multiple lentigines, electocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitilia, retardation of growth, and sensorineural deafness ...

The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
David H. Gutmann, MD, PhD, JAMA: The Journal of the American Medical Association. Review - July 2, 1997
Visitor Comments [for Professionals mainly]
... Autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency ... there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2 ...

The National Neurofibromatosis Foundation, Inc.
The Children's Tumor Foundation, 2007
Visitor Comments [Support Group]
Information for patients and families ...

Homozygous inactivation of the NF1 or NF-1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders
Lucy Side et al. New England Journal of Medicine 1997
Visitor Comments [for Professionals mainly]
The risk of malignant myeloid disorders in young children with neurofibromatosis type 1 is 200 to 500 times the normal risk. The gene for neurofibromatosis type 1 ( NF1 ) encodes neurofibromin, a protein that negatively regulates signals transduced by Ras proteins ... NF1 functions as a tumor-suppressor gene in immature myeloid cells ... Conclusions ... NF1 appears to function as a tumor - suppressor gene in immature myeloid cells ...

Neurofibromatosis, Type II or NF-2
Victor A. McKusick, OMIM, Johns Hopkins University, October 4, 2005
Visitor Comments [for Professionals mainly]
Alternative titles

About Neurofibromatosis, Type 2 or NF-2
The University Hospital
Visitor Comments "... concise ... facts about NF-2 ..."

The Neurofibromatoses
March of Dimes
The neurofibromatoses ( NF ) are genetic disorders of the nervous system. At this time, two distinct forms are known: NF1 and NF2 ...

Early diagnosis of optic glioma in children with neurofibromatosis type 1 or NF-1
Rossi LN et al. Childs Nerv Syst 1994 Seo; 10(7): 426-9
... Visual evoked potentials ( VEPs ) ... VEPs cannot be considered as a screening test for optic pathway lesions in children with NF 1, as previously stated...

A mouse model for the learning and memory deficits associated with neurofibromatosis type I
Silva AJ et al. Nat Genet 1997 Mar; 15(3): 281-4
... NF1 results in a complex cluster of developmental and tumor syndromes that include benign neurofibromas, hyperpigmentation, of melanocytes and hamartomas of the iris ... learning disabilities occur in 30% to 45% of patients with NF1, even in the absence of any apparent neural pathology ... depression in mean IQ scores, visuoperceptual problems ... impairments in spatial cognitive abilities ... we show that the NF1 +/- mutation also affects learning and memory in mice. As in humans, the learning and memory deficits of the NF1 +/- mice are restricted to specific types of learning, they are not fully penetrant, they can be compensated for with extended training, and they do not involve deficits in simple associative learning ...

NF Fact Sheet
British Columbia Neurofibromatosis Foundation, 2006
... one of the most common genetic disorders. NF occurs on every 3,000 babies born - over 10,000 Canadians ...

Neurofibromatosis Type 1 or NF-1
J M Friedman, MD, PhD, GENE Reviews, January 31, 2007
... NIH Consensus Conference in ... are generally accepted for routine clinical use ...

Facts to Know About Neurofibromatosis type 2 or NF-2
Jonathan Kantor, Acoustic Neuroma Patient Archive International

Neurofibromatosis Type 2 or NF-2
D Gareth Evans, MD, FRCP, GENE Reviews, June 6, 2006
NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis
Clinical diagnosis
Clinical consensus diagnosis criteria for NF2 ... Meningioma
Juvenile posterior subcapsular lenticular opacity ...
Two types of DNA-based tests are available clinically: mutation analysis of the NF2 gene and linkage analysis. The main role of DNA-based testing is in early detection of at-risk individuals (primarily children of classically affected patients) for management reasons. Exon scanning of the NF2 gene (chromosomal locus 22q12) in patients with bilateral vestibular schwannomas reveals disease-causing mutations in up to 2/3 of cases [MacCollin et al 1994, Parry et al 1996]. Such testing is thus not helpful in establishing the diagnosis in a symptomatic individual ...

Neurofibromatosis and Hearing Loss NF-1, NF-2, BANF
Boys Town National Research Hospital, July 29, 2005
Neurofibromatosis Type I ( NFI ) and Neurofibromatosis Type II ( NFII ), BANF ... Hearing Loss can occur in NF1, but is not common ... Neurofibromatosis Type II ... Central Neurofibromatosis of Bilateral Acoustic Neurofibromas ( BANF ) ...

NF Foundation Medical Resources Listing
Neurofibromatosis, Inc. 2007

Identifying a Tumor
Acoustic Neuroma Association, March 2007
MRI, CT, BAER, and other diagnostic tests Advances in medicine have made possible the identification of small acoustic neuromas ...

Neurofibromatosis, Inc.
Serving NF families since 1988.

The Neurofibromatosis Association ( United Kingdom )

Large pedigree with very mild and uniform NF2 or NF-2
The family described here presents a very mild course of NF2 with slowly growing and late-onset vestibular schwannomas, no marked hearing deficit before 40 to 50 years of age, and few other tumours ... The course ... Of this family demonstrated remarkable clinical uniformity ... epigenetic, stochastic or environmental factors may modify the phenotype ...
Splice site mutation causes mild NF2
NF2 provides an ideal model for the genotype - phenotype analysis of a tumour suppressor gene ... The penetrance of NF2 is virtually complete, and limited variation of the phenotype is seen within a single family ... Caused by a splice donor site mutation at intron 15 in the NF2 gene ...
Sporadic schwannomatosis is not classical NF2
Multiple schwannomas have been suggested to represent a third form of NF, schwannomatosis ... Patients in this study had multiple schwannomas but no other manifestations of NF2 including meningiomas and ocular abnormalities ... None of our patients had a positive family history ... Schwannomatosis families have been shown to associate with the NF2 gene in genetic linkage analyses ... three tumours of one individual with a highly aggressive disease did not display any NF2 gene abnormality, seen in > 90% of schwannomas. This is supported by the detection of schwannomas with no alterations in the NF2 gene but deletions elsewere on 22q ... No germ-line NF2 gene mutations were found in the present series, in line with other reports of sporadic or familial schwannomatosis ... Occasional NF2 mutations have been identified in schwannomatosis ... Altogether, sporadic schwannomatosis seems to be distinct from the classic NF2 ...
Merlin is a functional member of the ERM protein family
The NF2 tumour suppressor protein, merlin, shares structural characteristics with the ERM family of membrane-organizing proteins ... A major function of ERM proteins is the regulation of dynamic cell surface processes ...

The Children's Tumor Foundation, 2007
Schwannomatosis is a rare form of NF that has only recently been recognized. People with schwannomatosis develop multiple schwannomas on cranial, spinal and peripheral nerves ... do not develop vestibular tumors ... Do not go deaf ... Problems with pain ... Do not develop any other kinds of tumors ( for examples, meningiomas, ependymomas, or astrocytomas )... Have problems with chronic pain that often exceeds their neurological problems ... The first symptoms of schwannomatosis is almost always pain... 1/3 of patients with schwannomatosis have tumors limited to a single part of the body, such as an arm, a leg or a segment of the spine ... NF2 must be excluded ...

Clinical Programs
The Children's Tumor Foundation, 2007
States with Clinics

Proteus Syndrome Patient Brochure
Proteus Syndrome Foundation
Proteus Syndrome is condition which involves a typical growth of the bones, skin, head, and a variety of other symptoms. This condition was first identified by Michael Cohen, Jr., DMD, Ph. D., in 1979 ...

The Proteus Foundation
Kim Hoag, 2006
... Founded to support and educate families and professionals, and to raise money for research to find a cure for individuals living with Proteus Syndrome ...

Scoliosis Treatment
Ronald Blackman M.D. et al. Children's Hospital, Oakland, CA., May 16, 2006
Scoliosis is the medical term for curvature of the spine. This paper deals primarily with the surgical treatment of scoliosis ... Scoliosis occurs in approx. 2% of women and less than 1/2% of men. It usually starts in the early teens or pre-teens and may gradually progress as rapid growth occurs ...

Health Supervision for Children With Neurofibromatosis
Committee on Genetics, American Academy of Pediatrics, 1995

March of Dimes
Visitor Comments [Support Group] [Spanish]
Hojas de informacion de la salud publica
Los neurofibromatosis ( NF ) son trastornos geneticos del sistemanervioso. En este momento, se conocen dos formas distintas: NF1 y NF2 ...

Asociación Española de Neurofibromatosis
Visitor Comments [Support Group] [Spanish]
... Con sede legal en Madrid ... Tiene como objectivos: Agrupar a los afectados ...
Proporcionar información ...
Promover la concienciación pública
Promoción de la investigación
Favorecer el contacto nacional e internacional ...

March of Dimes
Visitor Comments [Spanish]

I.B.I.S. Birth Defects
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Definitions ... Etiology and Pathogenesis ... Diagnostic criteria of NF1 ... Diagnostic criteria of NF2 ... NF3 and NF4 ... Medical Care ...

Neurofibromatosis Fact Sheet for Parents
I.B.I.S. Birth Defects
Visitor Comments [Ukrainian]

Proteus Syndrome
I.B.I.S. Birth Defects, March 17, 2004
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Synonyms... Etiology and pathogenesis ... Mortality/morbidity ... Clinical features ... Differential diagnosis ... Laboratory, instrumental, histological tests ... Treatment ... Consultation ... Prognosis ..



Last Updated: 2009/3/09


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