Armfield syndrome
Findings
No curated finding names Armfield syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
Definition from the Mondo Disease Ontology (MONDO:0010284), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
38 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.
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- 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.
- FAM50AHGNC:18786
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2020
Where it sits
- A kind of
Other names
8 names
Resolves to: Armfield syndrome
- Also called
- Armfield X-linked intellectual disability syndromeArmfield X-linked mental retardation syndromeintellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessiveintellectual disability syndrome, X-linked, Armfield typemental retardation syndrome, X-linked, armfield type, X-linked recessiveMRXSAsyndromic X-linked intellectual disability Armfield typeX-linked intellectual disability, Armfield type