Weismann-Netter syndrome

Summary

Weismann-Netter syndrome (MONDO:0007209) is a disease. A subtype of bent bone dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 20

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0002982	Tibial bowing	Very frequent (80-99%)
HP:0002991	Abnormal fibula morphology	Very frequent (80-99%)
HP:0002992	Abnormality of tibia morphology	Very frequent (80-99%)
HP:0003103	Abnormal cortical bone morphology	Very frequent (80-99%)
HP:0003510	Severe short stature	Very frequent (80-99%)
HP:0006487	Bowing of the long bones	Very frequent (80-99%)
HP:0010502	Fibular bowing	Very frequent (80-99%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0002808	Kyphosis	Frequent (30-79%)
HP:0002823	Abnormality of femur morphology	Frequent (30-79%)
HP:0002980	Femoral bowing	Frequent (30-79%)
HP:0003177	Squared iliac bones	Frequent (30-79%)
HP:0003272	Abnormality of the hip bone	Frequent (30-79%)
HP:0003312	Abnormal form of the vertebral bodies	Frequent (30-79%)
HP:0000820	Abnormality of the thyroid gland	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0006501	Aplasia/Hypoplasia of the radius	Occasional (5-29%)
HP:0040071	Abnormal morphology of ulna	Occasional (5-29%)
HP:0031095	Abnormal humerus morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Weismann-Netter syndrome
Mondo ID	MONDO:0007209
MeSH	C537082
OMIM	112350
Orphanet	3344
ICD-11	180927608
SNOMED CT	715532007
UMLS	C1862172
MedGen	350610
GARD	0005232
NORD	1843
Is cancer (heuristic)	no

Also known as: anterior bowing of legs with dwarfism · bowing of legs, anterior with dwarfism · Weismann Netter Stuhl Syndrome · Weismann Netter syndrome · WEISMANN-NETTER syndrome · Weismann-Netter syndrome · Weismann-Netter-Stuhl syndrome · WNS

Disease family

This is a subtype of bent bone dysplasia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › skeletal dysplasia › bent bone dysplasia › Weismann-Netter syndrome

Related subtypes (10): campomelic dysplasia, parastremmatic dwarfism, kyphomelic dysplasia, congenital bowing of long bones, campomelia, Cumming type, Blount disease, severe lateral tibial bowing with short stature, familial bent bone dysplasia syndrome, Stüve-Wiedemann syndrome 1, autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.