Rare Disease Library

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

Congenital megaprepuce

Isolated congenital buried penis

Congenital pseudoarthrosis of the clavicle

Congenital pseudarthrosis of the clavicle

Congenital pseudoarthrosis of the femur

Congenital pseudarthrosis of the femur

Congenital pseudoarthrosis of the fibula

Congenital pseudarthrosis of the fibula

Congenital pseudoarthrosis of the radius

Congenital pseudarthrosis of the radius

Congenital pseudoarthrosis of the tibia

Congenital pseudarthrosis of the tibia

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

Isolated acheiria

Isolated congenital absence of hand

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated apodia

Isolated congenital absence of foot

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital cholesteatoma of the middle ear

CCME · Congenital middle ear cholesteatoma

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated congenital laryngeal web

Isolated fibular hemimelia

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

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

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

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia