ORPHA:3071
Costello syndrome
Synonyms: FCS syndrome · Faciocutaneoskeletal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Costello syndrome | FCS syndrome · Faciocutaneoskeletal syndrome |
| fr | Syndrome de Costello | Syndrome FCS · Syndrome facio-cutanéo-squelettique |
| de | Costello-Syndrom | FCS-Syndrom · Fazio-kutano-skelettales Syndrom |
| es | Síndrome de Costello | Síndrome FCS · Síndrome facio-cutáneo-esquelético |
| it | Sindrome di Costello | Sindrome FCS · Sindrome facio-cutaneo-scheletrica |
| nl | Syndroom van Costello | FCS-syndroom · Faciocutaneoskeletaal syndroom |
| pt | Síndrome Costello | Perturbação do desenvolvimento intelectual-papilomas nasais · Síndrome FCS · Síndrome facio-cutâneo-esquelético |
| pl | Zespół Costello | Zespół FCS · Zespół twarzowo-skórno-szkieletowy |
| cs | Costellův syndrom | FCS syndrom · Faciokutaneoskeletální syndrom |
| uk | Синдром Костелло | Лицево-кишково-суглобовий синдром · Синдром FCS |
| zh | Costello综合征 | 面皮肤骨骼综合征 |
| tr | Costello sendromu | FCS sendromu · Fasiyokütanoskeletal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218040 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009026 | E | validated | |
| MeSH | D056685 | E | validated | |
| UMLS | C0587248 | E | validated | |
| GARD | 1550 | E | validated | |
| MedDRA | 10067380 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98733Noonan syndrome and Noonan-related syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HRAS | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:5173 | ENSG00000174775 | 190020 | 11p15.5 | HRas proto-oncogene, GTPase | 20301680[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 20301680[PMID] | |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | Japan | Value and class | Validated | 22495831[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
55 annotations · validated 2025-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000951 | Abnormality of the skin | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0001598 | Concave nail | |
| HP:0001814 | Deep-set nails | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000962 | Hyperkeratosis | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0000256 | Macrocephaly | |
| HP:0000189 | Narrow palate | |
| HP:0000508 | Ptosis | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001582 | Redundant skin | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002224 | Woolly hair | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000483 | Astigmatism | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000293 | Full cheeks | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000563 | Keratoconus | |
| HP:0000158 | Macroglossia | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000543 | Optic disc pallor | |
| HP:0012740 | Papilloma | |
| HP:0001561 | Polyhydramnios | |
| HP:0000486 | Strabismus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0004690 | Thickened Achilles tendon | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0000280 | Coarse facial features | |
| HP:0031705 | Compensatory head posture | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000540 | Hypermetropia | |
| HP:0009748 | Large earlobe | |
| HP:0100729 | Large face | |
| HP:0002033 | Poor suck | |
| HP:0000358 | Posteriorly rotated ears | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 40116115[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3071
- This record as JSON: /data/d/3071.json