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Weismann-Netter syndrome(WNS)

MedGen UID:
350610
•Concept ID:
C1862172
•
Disease or Syndrome
Synonyms: Bowing of legs, anterior with dwarfism; Toxopachyosteose diaphysaire tibio-peroniere
SNOMED CT: Weismann Netter syndrome (715532007); Anterior bowing of legs with dwarfism (715532007)
 
Monarch Initiative: MONDO:0007209
OMIM®: 112350
Orphanet: ORPHA3344

Definition

The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009). [from OMIM]

Clinical features

From HPO
Anterior tibial bowing
MedGen UID:
350550
•Concept ID:
C1861937
•
Finding
An abnormal anterior bending or curvature of the tibia.
See: Feature record | Search on this feature
Fibular bowing
MedGen UID:
869374
•Concept ID:
C4023801
•
Anatomical Abnormality
A bending or abnormal curvature of the fibula.
See: Feature record | Search on this feature
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Kyphosis
MedGen UID:
44042
•Concept ID:
C0022821
•
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
See: Feature record | Search on this feature
Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
See: Feature record | Search on this feature
Squared iliac bones
MedGen UID:
324963
•Concept ID:
C1838186
•
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
See: Feature record | Search on this feature
Horizontal sacrum
MedGen UID:
342531
•Concept ID:
C1850558
•
Finding
See: Feature record | Search on this feature
Calvarial hyperostosis
MedGen UID:
350147
•Concept ID:
C1863351
•
Finding
Excessive growth of the calvaria.
See: Feature record | Search on this feature
Lateral femoral bowing
MedGen UID:
401070
•Concept ID:
C1866737
•
Finding
A lateral bending or abnormal curvature of the femur.
See: Feature record | Search on this feature
Small sella turcica
MedGen UID:
869368
•Concept ID:
C4023794
•
Finding
An abnormally small sella turcica.
See: Feature record | Search on this feature
Delayed eruption of permanent teeth
MedGen UID:
340353
•Concept ID:
C1849540
•
Finding
Delayed tooth eruption affecting the secondary dentition.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWeismann-Netter syndrome
Follow this link to review classifications for Weismann-Netter syndrome in Orphanet.

Recent clinical studies

Diagnosis

Weismann-Netter-Stuhl syndrome: report of two cases and treatment.
Gupta P, Mittal R, Mittal S, Shankar V
BMJ Case Rep 2014 Feb 4;2014 doi: 10.1136/bcr-2013-201772. PMID: 24496066Free PMC Article
Weismann-Netter-Stuhl syndrome: a family report.
Alp H, Atabek ME, Pirgon Ö
J Clin Res Pediatr Endocrinol 2009;1(4):194-6. Epub 2009 May 6 doi: 10.4274/jcrpe.v1i4.45. PMID: 21274295Free PMC Article
Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.
Peippo M, Valanne L, Perhomaa M, Toivanen L, Ignatius J
Am J Med Genet A 2009 Nov;149A(11):2593-601. doi: 10.1002/ajmg.a.33019. PMID: 19839038
Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.
Caksen H, Kurtoğlu S
Genet Couns 2004;15(1):81-5. PMID: 15083704

Supplemental Content

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    Clinical resources

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    • OMIM
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