Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

Genetic disorder characterized by complex brachydactyly and fibular hypoplasia.

Approximately 20 cases have been described in the literature.

Autosomal recessive. The responsible gene has been mapped to 20q11.2. Parental consanguinity is a risk factor.

The cartilage-derived morphogenetic protein-1 (CDMP1) is crucial in the patterning of chondrogenesis, longitudinal bone growth, and appendicular skeleton. The genetic defect results in a missense substitution in the active domain of CDMP1, which leads to a change in the conformation and finally in the activity of CDMP1.

Mainly clinical, based on the combination of short stature and limb malformations.

Patients affected with this syndrome present with short stature as a result of symmetrical limb malformations. In the upper limbs, the main findings are short metacarpal bones (especially the first metacarpals), short phalangeal bones (particularly the middle ones), and hypoplasia of the carpal bones. The thumbs are button-like, and all fingers tend to have radial deviation. In the lower limbs, the fibulas are either absent or severely hypoplastic, and the knees may be dislocated with hypoplastic and displaced patellae. The feet usually have an equinovalgus deformation associated with tibiotarsal dislocation of the ankle. The metatarsals are hypoplastic, as are the phalanges of all toes, which resemble ball-like remnants with hypoplastic nails. Intelligence and craniofacial features are normal.

No particular precautions for this syndrome.

Careful padding and positioning are required to prevent dislocations of the joints. Because of the malformations, peripheral vascular access may be challenging.

No specific implications for this condition.

Acromesomelic Dysplasia types II (Hunter-Thompson) and III (Grebe): Extremely short stature as a result of acromesomelic dysplasia of the limbs (forearms, forelegs, hands, feet). In general, patients have normal intelligence. Joint dislocations may occur. Normal craniofacial and axial skeleton.

Ahmad M, Abbas H, Wahab A, et al: Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred. Am J Med Genet 36:292, 1990.  [PubMed: 2363425]
Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al: Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (Du Pan syndrome). Clin Genet 61:454, 2002.  [PubMed: 12121354]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.