Roberts-SC phocomelia syndrome
Findings
No curated finding names Roberts-SC phocomelia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0100253), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
63 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.
- PhocomeliaHPOHP:0009829
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Absent radiusHPOHP:0003974
- 6 of 7 reported patients
- Hyperplasia of the maxillaHPOHP:0430028
- 5 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
Show the remaining 51
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Mesomelic arm shorteningHPOHP:0005011
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Proximal placement of thumbHPOHP:0009623
- Very frequent (80% to 99% of cases)
- Radial deviation of fingerHPOHP:0009466
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.
- ESCO2HGNC:27230
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: Roberts-SC phocomelia syndrome
- Also called
- Appelt-Gerken-Lenz syndromeESCO2 spectrum disorderhypomelia hypotrichosis facial hemangioma syndromelong bone deficiencies associated with cleft lip-palatephocomelia-pseudothalidomide syndromepseudothalidomide syndromeRBSRoberts syndromeRoberts syndrome/SC phocomeliaRoberts tetraphocomelia syndromeSC phocomelia syndrometetraphocomelia-cleft palate syndrome