autosomal recessive Robinow syndrome
Findings
No curated finding names autosomal recessive Robinow syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Definition from the Mondo Disease Ontology (MONDO:0009999), 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
116 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.
- BrachydactylyHPOHP:0001156
- 24 of 24 reported patients
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- 22 of 22 reported patients
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- 12 of 12 reported patients
- Proximal fifth finger symphalangismHPOHP:0009177
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 22 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 22 of 22 reported patients · Infantile onset
Show the remaining 104
- Short palmHPOHP:0004279
- 19 of 22 reported patients
- Rib fusionHPOHP:0000902
- 20 of 24 reported patients
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- 17 of 21 reported patients
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
- ROR2HGNC:10257
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- NXNHGNC:18008
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: autosomal recessive Robinow syndrome
- Also called
- costovertebral segmentation defect-mesomelia syndromeCOVESDEM syndromeRobinow syndrome, autosomal recessiveRRS