Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Dysmorphism

Dysmorphism are characterized by morphological developmental abnormalities such as malformations.

Classification

There are various specific types of deformities that can be distinguished.

Madelung deformity

Madelung's deformity is a malformation of the wrist and wrist bones characterized by a radial deviation of the hand. It is caused by either shortening of the radius or overgrowth of the ulna.

Craniofacial deformities

Craniofacial abnormalities include deformations of head and face. It often includes craniosynostosis, the premature fusion of skull plates, which may result in a tower shaped skull.

Diseases

Leri-Weill dyschondrosteosis
Characteristically, Madlung deformity develops in mid or late childhood.
Osteoglophonic dysplasia
Dysmorphisms are mainly craniofacial.
Williams-Beuren syndrome
Facial dysmorphic feature include depressed nasal bridge, prominent epicanthal folds, anteverted nares, and prominent lips.
X-linked familial short stature
Skeletal deformities include mesomelic deformities, Madlung deformity of the wrist in particular.
Y-linked familial short stature
Skeletal deformities include mesomelic deformities, Madlung deformity of the wrist in particular.