frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
MONDO:0013271Mondo
Findings
No curated finding names frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
30 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.
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the frontal sinusesHPOHP:0009119
- Frequent (30% to 79% of cases)
- Bifid noseHPOHP:0011803
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Eyelid colobomaHPOHP:0000625
- Frequent (30% to 79% of cases)
Show the remaining 18
- Finger clinodactylyHPOHP:0040019
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the frontal boneHPOHP:0005466
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- Frequent (30% to 79% of cases)
- Pectoral muscle hypoplasia/aplasiaHPOHP:0005258
- Frequent (30% to 79% 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.
- ALX1HGNC:1494
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
- Also called
- ALX1-related frontonasal dysplasiafrontonasal dysplasia type 3