polydactyly-macrocephaly syndrome
MONDO:0958227Mondo
Findings
No curated finding names polydactyly-macrocephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 3 of 3 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 3 of 3 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 3 reported patients
- CataractHPOHP:0000518
- 1 of 2 reported patients
- Chorioretinal colobomaHPOHP:0000567
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 2 reported patients
- Serous retinal detachmentHPOHP:0012231
- 1 of 2 reported patients
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 3 reported patients
Show the remaining 6
- Pectus carinatumHPOHP:0000768
- 1 of 3 reported patients
- Perianal abscessHPOHP:0009789
- 1 of 3 reported patients
- Renal agenesisHPOHP:0000104
- 1 of 3 reported patients
- Single umbilical arteryHPOHP:0001195
- 1 of 3 reported patients
- Thoracic platyspondylyHPOHP:0004592
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
Genes
1 gene
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.
- MAXHGNC:6913
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of