van Maldergem syndrome
Findings
No curated finding names van Maldergem syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
Definition from the Mondo Disease Ontology (MONDO:0017813), read 2026-09-29. CC BY 4.0.
Features
44 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
Show the remaining 32
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- Renal hypoplasiaHPOHP:0000089
- Frequent (30% to 79% of cases)
- SyndactylyHPOHP:0001159
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Absence of pubertal developmentHPOHP:0008197
- Occasional (5% to 29% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.