National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

AREDYLD



Other Names:
Acral renal ectodermal dysplasia lipoatrophic diabetes; Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes; Aredyld Syndrome
Categories:
This disease is grouped under:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1133

Definition
A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2006

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal nasal morphology
Abnormal of nasal shape
Abnormal of shape of nose
[ more ]
0005105
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the tragus 0009912
Abnormality of the ureter 0000069
Advanced eruption of teeth
Early eruption of teeth
0006288
Aplasia/Hypoplasia of the breasts
Absent/small breasts
Absent/underdeveloped breasts
[ more ]
0010311
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
0100840
Brachydactyly
Short fingers or toes
0001156
Cachexia
Wasting syndrome
0004326
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Hepatomegaly
Enlarged liver
0002240
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Lipoatrophy
Loss of fat tissue in localized area
0100578
Low-set, posteriorly rotated ears 0000368
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
0000303
Narrow mouth
Small mouth
0000160
Refractory anemia with ringed sideroblasts 0004828
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ]
0004322
Smooth philtrum 0000319
Sparse body hair 0002231
Splenomegaly
Increased spleen size
0001744
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ]
0100651
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
0005978
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Abnormality of the ear 0000598
Autosomal recessive inheritance 0000007
Ectodermal dysplasia 0000968
Generalized hypotrichosis 0004528
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.

Organizations Supporting this 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.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss AREDYLD. Click on the link to view a sample search on this topic.

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