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Kallmann syndrome-heart disease syndrome
Disease definition
Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
ORPHA:2326
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: Q24.8
- OMIM: -
- UMLS: C4302897
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Less than 10 cases have been described so far.
Etiology
The aetiology is unknown but both autosomal recessive and dominant modes of inheritance, de novo mutations and a teratogenic origin have been suggested.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
Detailed information
Disease review articles
- Review article
- Français (2009, pdf) - Ann Endocrinol


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.