Symptoms of Multiple pterygium syndrome Escobar type

Symptoms

Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes.[4] The joint contractures may make walking more difficult. Other symptoms may include down-slanting eyes, skins fold over the inner corners of the eyes (epicanthal folds), a small jaw, cleft palate, low set ears, and drooping eyelids (ptosis). Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora.[1, 2][4] Last updated: 11/16/2016

Source: GARD (NIH)1

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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

Last updated: 1/1/2017

Source: GARD (NIH)2

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Clinical features

Imported from Human Phenotype Ontology (HPO)

Source: GTR (NCBI/NIH)3

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 7111/ multiple-pterygium-syndrome-escobar-type
  2. ibid.
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0265261/ 

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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.