In Kallmann syndrome 1, the sense of smell is either diminished or completely absent. This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.
Additional signs and symptoms can include a failure of one kidney to develop, a cleft lip or palate, abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the sense of smell||90%|
|Hypoplasia of penis||90%|
|Abnormality of the voice||50%|
|Reduced bone mineral density||50%|
|Abnormality of color vision||7.5%|
|Delayed skeletal maturation||7.5%|
|Neurological speech impairment||7.5%|
|Reduced number of teeth||7.5%|
|Rocker bottom foot||7.5%|
|Sensorineural hearing impairment||7.5%|
|Decreased circulating follicle stimulating hormone level||-|
|Decreased circulating luteinizing hormone level||-|
|Hypothalamic gonadotropin-releasing hormone deficiency||-|
|Impaired FSH and LH secretion||-|
|Leydig cell insensitivity to gonadotropin||-|
|Olfactory lobe agenesis||-|
|Sparse pubic hair||-|
|Unilateral renal agenesis||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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