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phocomelia, Schinzel type

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

Synonyms

  • AARRS
  • Al Awadi Teebi Farag syndrome
  • Al Awadi-Raas-Rothschild syndrome
  • Al-Awadi-Raas-Rothschild syndrome
  • Al-Awadi/Raas-Rothschild syndrome
  • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
  • Schinzel phocomelia syndrome
  • Teebi Naguib Al Awadi syndrome
  • absence of ulna and fibula with severe limb deficiency
  • aplasia/hypoplasia of limbs and pelvis
  • congenital absence of ulna and fibula
  • limb/pelvis-hypoplasia/aplasia syndrome
  • profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence
  • severe limb deficit
  • ulna and fibula absence of with severe limb deficiency
  • ulna and fibula, absence of, with severe limb deficiency
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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