Weismann-Netter syndrome

Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.



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Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(34.8%)		 866891
 Toxopachyosteose diaphysaire tibio-peroniere (Weismann-Netter-Stuhl syndrome): two case reports.
Morgan CL, Gehweiler JA Jr, Osborne RL Jr.
Rev Interam Radiol. 1977;2(1):49-52.
Scoliosis Diaphyseal dysplasia
Congenital Abnormality Fibula Homo sapiens Male Syndrome
2
(32.7%)		 24496066
 Weismann-Netter-Stuhl syndrome: report of two cases and treatment.
Gupta P, Mittal R, Mittal S, Shankar V.
BMJ Case Rep. 2014;2014:.
Tibial bowing
Adult Bone Diseases, Developmental Differential Diagnosis Females Fibula Homo sapiens Male Osteotomy Sibling Young Adult
2
(32.7%)		 22927185
 Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome.
Zitano L, Loder RT, Cohen MD, Weaver DD.
Am J Med Genet A. 2012;158A(9):2309-16.
Rickets Tibial bowing
Body Height Child Females Homo sapiens Sibling
2
(32.7%)		 16773178
 Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.
Al Kaissi A, Ben Chehida F, Gharbi H, Jinziri M, Safi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K.
J Pediatr (Rio J). 2006;82(3):236-9.
Bowing of the legs
Child, Preschool Fibula Homo sapiens Leg Length Inequality Male Syndrome Vitamin D Deficiency X-Ray Computed Tomography
2
(32.7%)		 6779527
 Weismann-Netter-Stuhl syndrome: toxopachyosteose diaphysaire tibio-peroniere.
Amendola MA, Brower AC, Tisnado J.
AJR Am J Roentgenol. 1980;135(6):1211-5.
Goiter Diaphyseal dysplasia
Bone Diseases, Developmental Females Fibula Homo sapiens Male Syndrome
6
(23.3%)		 7761160
 The Weismann-Netter, Stuhl syndrome: a rare pediatric skeletal dysplasia.
Tieder M, Manor H, Peshin J, Alon US.
Pediatr Radiol. 1995;25(1):37-40.
Scoliosis
Bone Diseases, Developmental Child, Preschool Females Homo sapiens Syndrome
7
(21.2%)		 15083704
 Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.
Caksen H, Kurtoglu S.
Genet Couns. 2004;15(1):81-5.
Skeletal dysplasia
Body Height Bone Diseases, Developmental Child, Preschool Differential Diagnosis Females Femur Homo sapiens Rickets Syndrome
7
(21.2%)		 11195318
 Weismann-Netter-Stuhl syndrome: first Brazilian case reports.
Coimbra AV, Filardi S, Fernandes SR, Marques-Neto JF, Samara AM.
Joint Bone Spine. 2000;67(6):539-43.
Rickets
Bone Diseases, Developmental Brazil Child Disease Progression Females Fibula Homo sapiens Leg Middle Aged
7
(21.2%)		 9093784
 Tibioperoneal diaphyseal toxopachyosteosis or Weismann-Netter-Stuhl syndrome: difficulties encountered in classifying this syndrome and differentiation from rickets.
Nores JM, Monsegu MH, de Masfrand V, Oberlin F, Denormandie P, Remy JM.
Clin Exp Rheumatol. 1997;15(1):105-9.
Rickets
Body Height Diaphyses Differential Diagnosis Fibula Homo sapiens Male Middle Aged Rickets Syndrome
7
(21.2%)		 9056154
 Identification and classification of tibioperoneal diaphyseal toxopachyosteosis (Weismann-Netter-Stuhl syndrome): based on two new cases and a review of the literature.
Nor 3es JM, Monsegu MH, de Masfrand V, Oberlin F, Denormandie P, Remy JM.
Eur J Radiol. 1997;24(1):71-6.
Rickets
Body Height Diaphyses Femur Fibula Homo sapiens Leg Length Inequality Male Middle Aged Rickets Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0002982 Tibial bowing Very frequent (99-80%)
HP:0002991 Abnormality of fibula morphology Very frequent (99-80%)
HP:0002992 Abnormality of tibia morphology Very frequent (99-80%)
HP:0003103 Abnormal cortical bone morphology Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0010502 Fibular bowing Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0002823 Abnormality of femur morphology Frequent (79-30%)
HP:0002980 Femoral bowing Frequent (79-30%)
HP:0003177 Squared iliac bones Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0000820 Abnormality of the thyroid gland Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0002997 Abnormality of the ulna Occasional (29-5%)
HP:0003063 Abnormality of the humerus Occasional (29-5%)
HP:0006501 Aplasia/Hypoplasia of the radius Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0002748 Rickets 3
HP:0002652 Skeletal dysplasia 2
HP:0002749 Osteomalacia 1
HP:0002982 Tibial bowing 1
HP:0004322 Short stature 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID