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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kallmann syndrome 1


Other Names for this Disease

  • KAL1
  • Kallmann syndrome, type 1, X-linked
  • Kallmann syndrome, X-linked
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Symptoms

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What are the signs and symptoms of Kallmann syndrome 1?

The features of Kallmann syndrome 1 vary, even among affected people in the same family. The condition is characterized by delayed or absent puberty and an impaired sense of smell. It is a form of hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Males with hypogonadotropic hypogonadism are often born with an unusually small penis and undescended testes. At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed.[1]

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.[1]

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.[1]

Last updated: 12/22/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the sense of smell 90%
Anterior hypopituitarism 90%
Decreased fertility 90%
Erectile abnormalities 90%
Hypoplasia of penis 90%
Abnormality of the voice 50%
Breast aplasia 50%
Cryptorchidism 50%
Primary amenorrhea 50%
Reduced bone mineral density 50%
Abnormality of color vision 7.5%
Cleft palate 7.5%
Delayed skeletal maturation 7.5%
Gait disturbance 7.5%
Gynecomastia 7.5%
Hemiplegia/hemiparesis 7.5%
Ichthyosis 7.5%
Incoordination 7.5%
Malformation of the heart and great vessels 7.5%
Muscle weakness 7.5%
Muscular hypotonia 7.5%
Neurological speech impairment 7.5%
Nystagmus 7.5%
Obesity 7.5%
Pes cavus 7.5%
Ptosis 7.5%
Recurrent fractures 7.5%
Reduced number of teeth 7.5%
Renal hypoplasia/aplasia 7.5%
Rocker bottom foot 7.5%
Seizures 7.5%
Skeletal dysplasia 7.5%
Tremor 7.5%
Visual impairment 7.5%
Anosmia -
Ataxia -
Bimanual synkinesia -
Cryptorchidism -
Eunuchoid habitus -
Gynecomastia -
High palate -
Hypogonadotrophic hypogonadism -
Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency -
Impaired FSH and LH secretion -
Leydig cell insensitivity to gonadotropin -
Micropenis -
Olfactory lobe agenesis -
Pes cavus -
Sparse pubic hair -
Testicular atrophy -
Unilateral renal agenesis -
X-linked inheritance -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Kallmann syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed 12/22/2011.


Other Names for this Disease
  • KAL1
  • Kallmann syndrome, type 1, X-linked
  • Kallmann syndrome, X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.