colobomatous microphthalmia-rhizomelic dysplasia syndrome
Findings
No curated finding names colobomatous microphthalmia-rhizomelic dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
Definition from the Mondo Disease Ontology (MONDO:0014380), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- ColobomaHPOHP:0000589
- 4 of 6 reported patients
- AnophthalmiaHPOHP:0000528
- 2 of 6 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 6 reported patients
- MicrocorneaHPOHP:0000482
- 2 of 6 reported patients
- MicrophthalmiaHPOHP:0000568
- 2 of 6 reported patients
- Moderate intellectual disabilityHPOHP:0002342
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.
- MAB21L2HGNC:6758
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: colobomatous microphthalmia-rhizomelic dysplasia syndrome
- Also called
- microphthalmia-coloboma-rhizomelic skeletal dysplasiamicrophthalmia, syndromic type 14