microphthalmia with limb anomalies
Findings
No curated finding names microphthalmia with limb anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Definition from the Mondo Disease Ontology (MONDO:0008800), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
68 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.
- AnophthalmiaHPOHP:0000528
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abnormal eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
Show the remaining 56
- Sandal gapHPOHP:0001852
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Very frequent (80% to 99% of cases)
- Synostosis of jointsHPOHP:0100240
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- True anophthalmiaHPOHP:0011478
- Very frequent (80% to 99% of cases)
- 4-5 metacarpal synostosisHPOHP:0005867
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.
- SMOC1HGNC:20318
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: microphthalmia with limb anomalies
- Also called
- anophthalmia-syndactyly syndromeMLAOASOphthalmoacromelic syndromeWaardenburg anophthalmia syndrome