frontonasal dysplasia with alopecia and genital anomaly
Findings
No curated finding names frontonasal dysplasia with alopecia and genital anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
Definition from the Mondo Disease Ontology (MONDO:0013268), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
52 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.
- Alopecia totalisHPOHP:0007418
- 2 of 2 reported patients
- Anterior plagiocephalyHPOHP:0011326
- 2 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Bifid nasal tipHPOHP:0000456
- 2 of 2 reported patients
- Bilateral cryptorchidismHPOHP:0008689
- 2 of 2 reported patients
- BlepharophimosisHPOHP:0000581
- 2 of 2 reported patients
- Brachycephaly
Show the remaining 40
- Wide nasal bridgeHPOHP:0000431
- 2 of 2 reported patients
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Bifid noseHPOHP:0011803
- Very frequent (80% to 99% of cases)
- Coronal craniosynostosisHPOHP:0004440
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 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.
- ALX4HGNC:450
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: frontonasal dysplasia with alopecia and genital anomaly
- Also called
- ALX4-related FNDAGcraniofrontonasal dysplasia with alopecia and hypogonadismfrontonasal dysplasia type 2frontonasal dysplasia with alopecia and genital abnomality