chromosome 15q26-qter deletion syndrome
Findings
No curated finding names chromosome 15q26-qter deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0012964), read 2026-09-29. CC BY 4.0.
Features
59 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.
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- Frequent (30% to 79% of cases)
- Abnormal aortic arch morphologyHPOHP:0012303
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
Show the remaining 47
- Coarctation of aortaHPOHP:0001680
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
Where it sits
Other names
7 names
Resolves to: chromosome 15q26-qter deletion syndrome
- Also called
- 15q26 deletion syndromechromosome 15q26-qter deletion syndrome, isolated casesdistal monosomy 15qdistal monosomy type 15qDrayer syndromemonosomy 15q26telomeric 15q deletion syndrome