AREDYLD syndrome
Findings
No curated finding names AREDYLD syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome 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.
Definition from the Mondo Disease Ontology (MONDO:0008812), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Abnormal nasal morphologyHPOHP:0005105
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Abnormal tragus morphologyHPOHP:0009912
- Very frequent (80% to 99% of cases)
- Abnormality of the ureterHPOHP:0000069
- Very frequent (80% to 99% of cases)
- Advanced eruption of teethHPOHP:0006288
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- LipoatrophyHPOHP:0100578
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Refractory anemia with ringed sideroblastsHPOHP:0004828
Where it sits
- A kind of
Other names
1 name
Resolves to: AREDYLD syndrome
- Also called
- acrorenal defect-ectodermal dysplasia-diabetes syndrome