Genetic disorder characterized by complex
brachydactyly and fibular hypoplasia.
Approximately 20 cases have been described in the
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
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
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
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
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