Ulna and fibula, hypoplasia of

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

Autosomal dominant pattern, a 50/50 chance.

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)

NIH genetic and rare disease info

• NIH info on Ulna and fibula, hypoplasia of

Ulna and fibula, hypoplasia of is a rare disease.

Resources

Frequently asked questions

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