Rare Disease Library

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheomalacia

Congenital major airway collapse

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital urachal anomaly

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital ectropion

Isolated congenital entropion

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

Primary syringomyelia

Congenital syringomyelia

Proboscis lateralis

Congenital tubular nose

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Tritanopia

Blue colour blindness · Congenital tritanopia