Weismann-Netter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE
BOWING OF LEGS, ANTERIOR, WITH DWARFISM
WNS
Number of Symptoms 39
OrphanetNr: 3344
OMIM Id: 112350
ICD-10: Q77.8
UMLs:
MeSH: C537082
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010538) Small sella turcica rare [HPO:skoehler] 3 / 7739
2
 (HPO:0000696) Delayed eruption of permanent teeth rare [HPO:skoehler] 12 / 7739
3
 (HPO:0004490) Calvarial hyperostosis rare [HPO:skoehler] 11 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0000820) Abnormality of the thyroid gland Occasional [Orphanet] 19 / 7739
6
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
7
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
8
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
9
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
10
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
11
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
12
 (HPO:0003440) Horizontal sacrum 5 / 7739
13
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
15
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
16
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
17
 (HPO:0003177) Squared iliac bones 7 / 7739
18
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
19
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
20
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
21
 (HPO:0003510) Severe short stature 90 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
24
 (OMIM) Embedded vertebral body L5 1 / 7739
25
 (OMIM) Enlarged thyroid gland 3 / 7739
26
 (OMIM) Mental retardation, variable degree (in some patients) 1 / 7739
27
 (OMIM) Malformation of vertebral column (rare) 1 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
29
 (OMIM) Posterior cortical thickening of tibiae 1 / 7739
30
 (OMIM) Diaphyseal changes of long bones, mild 1 / 7739
31
 (OMIM) Broadening or 'tibialization' of fibulae 1 / 7739
32
 (OMIM) Abnormally shaped ribs or clavicles (rare) 1 / 7739
33
 (OMIM) Posterior cortical thickening of fibulae 1 / 7739
34
 (OMIM) Lumbar lordosis, pronounced 1 / 7739
35
 (OMIM) Anterior bowing of diaphyses of fibulae 1 / 7739
36
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
37
 (OMIM) Anterior bowing of diaphyses of tibiae 1 / 7739
38
 (OMIM) Square iliac wings 2 / 7739
39
 (OMIM) Calcified falx cerebri (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Weismann-Netter and Stuhl (1954) reported an apparently familial disorder of anterior bowing of tibiae and fibulae, with cortical hyperostosis on the concave side of the curvature. Associated anomalies were short stature and, in some cases, mental retardation. Familial ...