Brachydactyly-Ectrodactyly, Fibular Aplasia/Hypoplasia Syndrome

At a glance

A genetic disorder resulting in complex dysostosis with multiple distal limb deformities.

Synonym

Ectrodactyly Fibular Aplasia.

Incidence

Unknown. Approximately 60 cases have been described.

Genetic inheritance

The disorder is most likely inherited in an autosomal dominant fashion. However, there is reduced penetrance and marked variability in expression. Approximately half of the cases seem to be sporadic with males about twice as often affected as females. Familial cases are more evenly distributed between the two genders. It has been suggested that the high degree of nonpenetrance implies that most cases considered to be sporadic are in fact due to incomplete penetrance rather than new mutations.

Clinical aspects

These patients are mentally normal. While all for extremities can be affected, patients on average have two limbs involved. The defect can include fibular and/or ulnar aplasia/hypoplasia, metacarpal, and phalangeal hypoplasia of the hands (that may be severe), metatarsal and phalangeal hypoplasia of the feet (fused tarsal and metatarsal bones, and grossly deformed proximal phalanges), and ectrodactyly of hands and/or feet. Ectrodactyly (derived from Greek ektroma [abortion] and daktylos [finger]) describes the longitudinal deficit of one or more central digital rays, ie, the absence of at least one entire digit (both metacarpal/metatarsal and phalanges). The affected limb(s) is (are) typically shortened. Syndactyly or monodactyly of hands and feet may be present. The upper limb seems to be more often affected in familial cases (particularly if they are females), but otherwise there are no apparent differences between males and females or familial and sporadic cases. Radial and tibial defects (hypoplasia, severe angulation often with dimpling of the overlying skin) may occur. Femoral involvement (bilateral hypoplastic femur) is rare and may involve the proximal femur and/or the acetabulum. Occasionally, the hip or knee may also be involved. Except for umbilical hernia in two patients, no other defects have been reported.

Precautions before anesthesia

Routine preoperative assessment.

Anesthetic considerations

Peripheral venous access may be difficult due to the limb deformities. Careful padding is required to avoid pressure sores.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

• ☞ADULT Syndrome: ADULT is an acronym that stands for AcroDermato-Ungual-Lacrimal-Tooth. The main findings are hypodontia, very brittle and/or premature loss of permanent teeth, and ectrodactyly (split hands and feet). There is no evident impairment of general health in patients with ADULT Syndrome.

• ☞Cleft Hand and Absent Tibia Syndrome (Aplasia of Tibia with Ectrodactyly; Tibial Aplasia with Split-Hand/Foot Deformity): Syndrome characterized by cleft hand and tibial aplasia.

• ☞Du Pan Syndrome: Autosomal recessive transmitted disorder ...