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,
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Decreased testicular size||
Small testis[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Hypothalamic gonadotropin-releasing hormone deficiency||0003164|
Small penis[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the voice||
Undescended testis[ more ]
|Reduced bone mineral density||0004349|
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of color vision||
Abnormal color vision
Hand mirror movements
Mirror hand movements
Mirror movements[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Difficulty articulating speech
Asymmetry of face
Unsymmetrical face[ more ]
Impaired gait[ more ]
Flat foot[ more ]
Drooping upper eyelid
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Reduced number of teeth||
Decreased tooth count
Missing kidney[ more ]
|Sensorineural hearing impairment||0000407|
Loss of eyesight
Poor vision[ more ]
|Percent of people who have these symptoms is not available through HPO|
Absent sperm in semen
Increased palatal height[ more ]
|Olfactory lobe agenesis||
Olfactory lobe absence
|Sparse pubic hair||
Decreased sexual hair
|Unilateral renal agenesis||
Absent kidney on one side
Missing one kidney
Single kidney[ more ]
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.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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