Disorders handled by the Centre for rare disorders

The disorders listed below are the ones that the Centre for rare disorders offer information and advice about. We do not have disorder descriptions in English on this website. For authoritative information in English, please refer to the Swedish National Board of Health and Welfare  (Socialstyrelsen), Rarelink (Nordic link collection) or OrphaNet (The portal for rare diseases and orphan drugs).


Anorectal anomalies

Anal atresia

Currarino triad

Bladder exstrophy/epispadias

Genital anomalies

Adrenogenital syndrome (AGS), (CAH)

Hermaphroditism – Pseudohermaphroditism

Complete androgen insensitivity syndrome (CAIS)

Partial androgen insensitivity syndrome (PAIS)

Scrotal hypospadia

Oesophagus atresia

Cranofacial anomalies

Syndromatic craniosynostosis

Apert syndrome

Crouzon syndrome

Pfeiffer syndrome

Sæthre-Chotzen syndrome

Muenke syndrome


Treacher Collins syndrome

Hemifacial microsomia/


Choanal atresia

Cleidocranial dysplasia

Microtia, anotia


Pierre Robin

Freeman Sheldon Spectrum/

Whistling Face



Congenital liver diseases

Aagenaes syndrome

Alagille syndrome

Extrahepatic biliary atresia


Inborn errors of metabolism

PKU – Phenylketonuria (Folling disease)


MSUD – Maple Syrup Urine Disease

Methylmalonic acidemia

Propionic acidemia

Alport syndrome

Fabry disease

LCAT deficiency (Norum disease)

Congenital thrombocytopenia

Congenital haemophilia


Haemophilia A + B

Owren’s disease

Factor VII deficiency

von Willebrand’s disease

Hereditary hemorrhagic telangiectasia (HHT)

Primary immunodeficiencies


X-linked agammaglobulinemia

CVID – Common Variable Immuno Deficiency

IgG subclass deficiency

Selective IgA deficiency

Hyper-IgM syndrome

T-cell disease and combined B- and T-cell disorders

SCID - Severe combined immunodeficiency

Wiskott-Aldrich syndrom

Phagocytic deficiencies

Chronic granulomatous disease (CGD)

Interferon-gamma-receptor deficiency (INFGR)

Leukocyte adhesion deficiency LAD


Complement deficiencies

Immunodeficiency associated with other syndromes

Hyper-IgE syndrome

Chronic mucocutaneous candidiasis CMC

Autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED)

Ivemark syndrome

X-linked lymphoproliferative syndrome

(Duncan’s disease)

Congenital skin diseases

Epidermolysis bullosa (EB)

Ectodermal dysplasia (ED)

Greither’s syndrome

Hydroa vacciniforme


Incontinentia pigmenti


Netherton syndrome

Pachyonychia congenital



Hereditary eye and central nervous system disorders

Laurence-Moon-Bardet-Biedl syndrome (BBS/LMBB)

Huntington’s disease


Page visits: 2690