Frank-Ter Haar syndrome
Findings
No curated finding names Frank-Ter Haar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0009579), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
67 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.
- Abnormally large globeHPOHP:0001090
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- BuphthalmosHPOHP:0000557
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Depressed nasal bridge
Show the remaining 55
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- KyphoscoliosisHPOHP:0002751
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Patent foramen ovaleHPOHP:0001655
- 1 of 1 reported patient
- ProptosisHPOHP:0000520
- 17 of 17 reported patients
- Redundant neck skinHPOHP:0005989
- 1 of 1 reported patient
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.
- SH3PXD2BHGNC:29242
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Frank-Ter Haar syndrome
- Also called
- Borrone Dermatocardioskeletal syndromeBorrone di Rocco Crovato syndromeTer Haar syndrome