Ulna and fibula, hypoplasia of: Difference between revisions
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Latest revision as of 08:11, 4 February 2025
Alternate names
Hypoplasia of ulna and fibula; Mesomelic dwarfism of hypoplastic ulna and fibula type; Mesomelic dysplasia Reinhardt-Pfeiffer type
Definition
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
Epidemiology
Prevalence is unknown but only a few families have been described in the literature so far.
Genetics
The syndrome is transmitted in an autosomal dominant manner and cases of this dysplasia have been described in families with Langer mesomelic dwarfism and Léri-Weill dyschondrosteosis leading to the suggestion that this dysplasia, type Reinhardt-Pfeiffer may also be associated with haploinsufficiency of the short stature homeobox (SHOX; Xp22.33 and Yp11.32) gene or anomalies of the downstream pseudoautosomal region 1 (PAR1) where SHOX enhancer elements are located.
Signs and symptoms
Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of tibia morphology(Abnormality of the shankbone)
- Disproportionate short stature
- Elbow dislocation(Dislocations of the elbows)
- Fibular hypoplasia(Short calf bone)
- Hypoplasia of the ulna(Underdeveloped inner large forearm bone)
- Micromelia(Smaller or shorter than typical limbs)
- Radial head subluxation
- Skin dimple
- Ulnar deviation of finger(Finger bends toward pinky)
30%-79% of people have these symptoms
- Synostosis of carpal bones(Fusion of wrist bones)
5%-29% of people have these symptoms
- Myopia(Close sighted)
- Strabismus(Cross-eyed)
Diagnosis
Treatment
NIH genetic and rare disease info
Ulna and fibula, hypoplasia of is a rare disease.
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Rare diseases - Ulna and fibula, hypoplasia of
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