GAPO syndrome
Findings
No curated finding names GAPO syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations
Definition from the Mondo Disease Ontology (MONDO:0009263), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
79 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.
- AlopeciaHPOHP:0001596
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Concave nasal ridgeHPOHP:0011120
- 2 of 2 reported patients
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
Show the remaining 67
- Palpebral thickeningHPOHP:0030939
- 2 of 2 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 2 of 2 reported patients
- Severe short statureHPOHP:0003510
- 2 of 2 reported patients
- Shallow orbitsHPOHP:0000586
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
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.
- ANTXR1HGNC:21014
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: GAPO syndrome
- Also called
- Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome