Symptoms of Achondroplasia and Swiss type agammaglobulinemia

Symptoms

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.

Signs and Symptoms

• Cellular immunodeficiency
• Lymphopenia
• Recurrent respiratory infections
• Fine hair
• Reduced bone mineral density
• Short stature
• Abnormality of the fibula
• Abnormality of the pancreas
• Aganglionic megacolon
• Anemia
• Cognitive impairment
• Hernia of the abdominal wall
• Hypopigmentation of hair
• Malabsorption
• Pectus excavatum
• Abnormality of the thorax
• Agammaglobulinemia
• Autosomal recessive inheritance
• Death in childhood
• Hypoplasia of the thymus
• Metaphyseal chondrodysplasia
• Severe combined immunodeficiency

Last updated: 1/1/2017

Source: GARD (NIH)¹

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Symptoms

Read more about symptoms of related disorders:

• Symptoms of Achondroplasia

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References

1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 463/ achondroplasia-and-swiss-type-agammaglobulinemia

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.