chromosome 16p13.3 duplication syndrome
Findings
No curated finding names chromosome 16p13.3 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
Definition from the Mondo Disease Ontology (MONDO:0013273), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
69 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.
- Global developmental delayHPOHP:0001263
- 9 of 12 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 7 of 12 reported patients
- Protruding earHPOHP:0000411
- 5 of 12 reported patients
- Proximal placement of thumbHPOHP:0009623
- 5 of 12 reported patients
- CamptodactylyHPOHP:0012385
- 4 of 12 reported patients
- Sandal gapHPOHP:0001852
Where it sits
Other names
7 names
Resolves to: chromosome 16p13.3 duplication syndrome
- Also called
- 16p13.3 microduplication syndromechromosome 16p13.3 duplication syndrome, isolated casesdistal duplication 16pdistal trisomy 16pdup(16)(p13.3)telomeric duplication 16ptrisomy 16pter