Aarskog-Scott syndrome, X-linked
Findings
No curated finding names Aarskog-Scott syndrome, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Definition from the Mondo Disease Ontology (MONDO:0010589), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
51 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.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Broad palmHPOHP:0001169
- 22 of 22 reported patients
- Broad philtrumHPOHP:0000289
- 13 of 13 reported patients
- CryptorchidismHPOHP:0000028
- 6 of 11 reported patients · Congenital onset
- 1 of 1 reported patient
- 0 of 2 reported patients
- Decreased serum testosterone concentrationHPOHP:0040171
- 1 of 1 reported patient
Show the remaining 39
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- Pointed chinHPOHP:0000307
- 2 of 2 reported patients
- Round faceHPOHP:0000311
- 1 of 1 reported patient
- Shawl scrotumHPOHP:0000049
- 10 of 11 reported patients · Congenital onset
- 1 of 1 reported patient · Congenital onset
- 2 of 3 reported patients
- 2 of 2 reported patients
- Short neckHPOHP:0000470
- 11 of 11 reported patients
- Short palmHPOHP:0004279
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.
- FGD1HGNC:3663
- Definitive · ClinGen · X-linked · 2017
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Aarskog-Scott syndrome, X-linked
- Also called
- Aarskog syndrome, X-linkedAarskog-Scott syndrome, X-linked recessivemental retardation, X-linked syndromic 16, X-linked recessive