alopecia - contractures - dwarfism - intellectual disability syndrome
Findings
No curated finding names alopecia - contractures - dwarfism - intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
Definition from the Mondo Disease Ontology (MONDO:0008754), read 2026-09-29. CC BY 4.0.
Features
34 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.
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Sparse hair
Show the remaining 22
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: alopecia - contractures - dwarfism - intellectual disability syndrome
- Also called
- ACD-intellectual disability syndrome