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Neurofibromatosis, familial spinal(FSNF)

MedGen UID:: 320296
•Concept ID:: C1834235
•: Disease or Syndrome

Synonym:	FSNF
SNOMED CT:	Familial spinal neurofibromatosis (1003465006)

Gene (location): Gene(s) directly associated with this condition or phenotype.	NF1 (17q11.2)

Monarch Initiative:	MONDO:0008078
OMIM®:	162210

Definition

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013). [from OMIM]

Clinical features

From HPO

Lower limb muscle weakness

MedGen UID:: 324478
•Concept ID:: C1836296
•: Finding

Weakness of the muscles of the legs.

See: Feature record | Search on this feature

Neurofibroma

MedGen UID:: 45058
•Concept ID:: C0027830
•: Neoplastic Process

A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.

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Plexiform neurofibroma

MedGen UID:: 64640
•Concept ID:: C0206728
•: Neoplastic Process

A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.

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Paraparesis

MedGen UID:: 113150
•Concept ID:: C0221166
•: Sign or Symptom

Weakness or partial paralysis in the lower limbs.

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Symmetric spinal nerve root neurofibromas

MedGen UID:: 320297
•Concept ID:: C1834236
•: Neoplastic Process

Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.

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Spinal neurofibroma

MedGen UID:: 869787
•Concept ID:: C4024217
•: Neoplastic Process

A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.

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Freckling

MedGen UID:: 5272
•Concept ID:: C0016689
•: Finding

The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.

See: Feature record | Search on this feature

Cafe-au-lait spot

MedGen UID:: 113157
•Concept ID:: C0221263
•: Finding

Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.

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Lisch nodules

MedGen UID:: 395461
•Concept ID:: C1860334
•: Finding

The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..

See: Feature record | Search on this feature

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Abnormality of limbs
- Lower limb muscle weakness
Abnormality of the eye
- Lisch nodules
Abnormality of the integument
- Cafe-au-lait spot
- Freckling
Abnormality of the nervous system

Professional guidelines

PubMed

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM
Hum Mutat 2020 Jan;41(1):299-315. Epub 2019 Oct 26 doi: 10.1002/humu.23929. PMID: 31595648 Free PMC Article

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M
Hum Genomics 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. PMID: 23244495 Free PMC Article

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype.

Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM
Radiology 2001 Feb;218(2):434-42. doi: 10.1148/radiology.218.2.r01fe40434. PMID: 11161159

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Recent clinical studies

Etiology

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F
Clin Genet 2015 May;87(5):401-10. Epub 2014 Nov 22 doi: 10.1111/cge.12498. PMID: 25211147

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Diagnosis

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, Ruggieri M
J Clin Neurosci 2014 Feb;21(2):328-30. Epub 2013 Aug 15 doi: 10.1016/j.jocn.2013.01.026. PMID: 23954459

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V
Neuropediatrics 2013 Oct;44(5):239-44. Epub 2013 Jun 18 doi: 10.1055/s-0033-1343350. PMID: 23780384

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Neurofibromatosis, familial spinal(FSNF)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

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