Hartsfield-Bixler-Demyer syndrome
MONDO:0014196Mondo
Findings
No curated finding names Hartsfield-Bixler-Demyer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Agenesis of corpus callosumHPOHP:0001274
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 6 of 6 reported patients
- EctrodactylyHPOHP:0100257
- 6 of 7 reported patients
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- 4 of 7 reported patients
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EncephaloceleHPOHP:0002084
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 2 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Lobar holoprosencephalyHPOHP:0006870
- Very frequent (80% to 99% of cases)
Show the remaining 16
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- 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.
- FGFR1HGNC:3688
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Moderate · ClinGen · Autosomal dominant · 2026
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Hartsfield-Bixler-Demyer syndrome
- Also called
- holoprosencephaly-ectrodactyly-cleft lip palate syndromeholoprosencephaly-ectrodactyly-cleft lip/palate syndrome