frontorhiny
Findings
No curated finding names frontorhiny yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
Definition from the Mondo Disease Ontology (MONDO:0007636), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Basal encephaloceleHPOHP:0011817
- Frequent (30% to 79% of cases)
- Bifid tongueHPOHP:0010297
- 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 palateHPO
Show the remaining 17
- Finger clinodactylyHPOHP:0040019
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Hypoplastic frontal sinusesHPOHP:0002738
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- 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.
- ALX3HGNC:449
- 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
3 names
Resolves to: frontorhiny
- Also called
- ALX3-related frontonasal dysplasiafrontonasal dysplasia type 1isolated median cleft face syndrome