Weismann-Netter–Stuhl syndrome, also known as Weismann-Netter syndrome or tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg. The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and

fibulae The fibula (: fibulae or fibulas) or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. ...

. It is thought to be inherited in an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

fashion and is most often bilateral and symmetric in nature. Associated features include

dwarfism Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . '' ...

and mild

intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae. The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities, ruling out alternative diagnoses including

rickets Rickets, scientific nomenclature: rachitis (from Greek , meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes. Symptoms include bowed legs, stun ...

, essentially confirms the diagnosis.

Cause

This condition is currently felt to be a genetic disorder, caused by inheritance of an abnormal gene via autosomal dominant inheritance.

Diagnosis

Radiographic features

The most prominent and extensively documented findings of Weismann-Netter–Stuhl syndrome are on plain radiographs of the bones. Findings include bilateral and symmetric anterior bowing of both tibiae and fibulae, lateral bowing of the tibiae, femoral bowing, and squaring of iliac and pelvis bones.

Management

Gene therapy if possible

History

The features of this disorder were first described by French doctors Robert Weismann-Netter (1894–1980) and L. Stuhl in their report first describing the association in seven patients in 1954. They believed these seven patients had mistakenly been diagnosed as

congenital syphilis Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at childbirth, birth. It may present in the fetus, infant, or later. Clinical features vary and differ between ...

, which remain the primary considerations in the differential diagnosis of this syndrome today.

References

External links

{{DEFAULTSORT:Weismann-Netter-Stuhl syndrome Osteopathies Rare syndromes