Rare Disease Library

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral

OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

OBSOLETE: Femoral agenesis/hypoplasia, unilateral

OBSOLETE: Femoral intercalary meromelia, unilateral

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral