arachnodactyly-abnormal ossification-intellectual disability syndrome
Findings
No curated finding names arachnodactyly-abnormal ossification-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0015234), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Aplasia/Hypoplasia of the EpiglottisHPOHP:0010565
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Frontal bossing
Show the remaining 3
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
- Thin calvariumHPOHP:0010539
- Frequent (30% to 79% of cases)
- ApneaHPOHP:0002104
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: arachnodactyly-abnormal ossification-intellectual disability syndrome
- Also called
- Kosztolanyi syndrome