Costello syndrome
Findings
No curated finding names Costello syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
Definition from the Mondo Disease Ontology (MONDO:0009026), read 2026-09-29. CC BY 4.0.
Features
55 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.
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Acanthosis nigricansHPOHP:0000956
- Very frequent (80% to 99% of cases)
- Concave nailHPOHP:0001598
- Very frequent (80% to 99% of cases)
- Deep-set nailsHPOHP:0001814
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Lack of skin elasticityHPOHP:0100679
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Narrow palateHPOHP:0000189
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Pulmonic stenosisHPOHP:0001642
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Genes
9 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.
- HRASHGNC:5173
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- NRASHGNC:7989
- Limited · ClinGen · Autosomal dominant · 2018
- BRAFHGNC:1097
- Disputed Evidence · ClinGen · Autosomal dominant · 2018
- KRASHGNC:6407
- · ClinGen · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: Costello syndrome
- Also called
- congenital myopathy with excess of muscle spindlesfaciocutaneoskeletal syndromeFCS syndrome