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Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes(AREDYLD)

MedGen UID:
87435
•Concept ID:
C0342280
•
Disease or Syndrome
Synonyms: Acral renal ectodermal dysplasia lipoatrophic diabetes; AREDYLD; AREDYLD syndrome
SNOMED CT: Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes (237610008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008812
OMIM®: 207780
Orphanet: ORPHA1133

Definition

A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. [from ORDO]

Clinical features

From HPO
Ear malformation
MedGen UID:
75618
•Concept ID:
C0266589
•
Congenital Abnormality
An abnormality of the ear.
See: Feature record | Search on this feature
Mandibular prognathia
MedGen UID:
98316
•Concept ID:
C0399526
•
Finding
Abnormal prominence of the chin related to increased length of the mandible.
See: Feature record | Search on this feature
Ectodermal dysplasia
MedGen UID:
8544
•Concept ID:
C0013575
•
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
See: Feature record | Search on this feature
Generalized hypotrichosis
MedGen UID:
867291
•Concept ID:
C4021653
•
Disease or Syndrome
Reduced or lacking hair growth in a generalized distribution.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
Follow this link to review classifications for Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes in Orphanet.

Supplemental Content

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    Clinical resources

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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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