ORPHA:3255
Filippi syndrome
Synonyms: Type 1 syndactyly-microcephaly-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Filippi syndrome | Type 1 syndactyly-microcephaly-intellectual disability syndrome |
| fr | Syndrome de Filippi | Syndrome de syndactylie type 1-microcéphalie-déficience intellectuelle |
| de | Filippi-Syndrom | Typ-1-Syndaktylie-Mikrozephalie-Intelligenzminderung-Syndrom |
| es | Síndrome de Filippi | Síndrome de sindactilia-microcefalia-discapacidad intelectual tipo 1 |
| it | Sindrome di Filippi | Sindrome sindattilia tipo 1-microcefalia-disabilità intellettiva |
| nl | Syndroom van Filippi | Syndactylie type 1 - microcefalie - intellectuele achterstand-syndroom |
| pt | Síndrome Filippi | Síndrome de sindactilia tipo 1-microcefalia-perturbação do desenvolvimento intelectual |
| pl | Zespół Filippi | Syndaktylia, typu 1 - małogłowie - niepełnosprawność intelektualna |
| cs | Filippiho syndrom | Syndrom zahrnující syndaktylii, typ 1, mikrocefalii a mentální retardaci |
| uk | Синдром Філіппі | Синдром синдактилії-мікроцефалії-інтелектуальної недостатності 1-го типу |
| zh | Filippi综合征 | 1型并指（趾）-小头畸形-智力障碍综合征 |
| tr | Filippi sendromu | Tip 1 sindaktili-mikrosefali-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272440 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010092 | E | validated | |
| MeSH | C538152 | E | validated | |
| UMLS | C0795940 | E | validated | |
| GARD | 62 | E | validated | |
| MedDRA | 10083943 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:137658Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CKAP2L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26877 | ENSG00000169607 | 616174 | 2q14.1 | cytoskeleton associated protein 2L | 25439729[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 26813917[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26813917[PMID] |
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
40 annotations · validated 2017-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0010529 | Echolalia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0002300 | Mutism | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0003510 | Severe short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0010761 | Broad columella | |
| HP:0000337 | Broad forehead | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010580 | Enlarged epiphyses | |
| HP:0002007 | Frontal bossing | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002451 | Limb dystonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000648 | Optic atrophy | |
| HP:0010550 | Paraplegia | |
| HP:0011220 | Prominent forehead | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0001792 | Small nail | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0001250 | Seizure | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000233 | Thin vermilion border | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3255
- This record as JSON: /data/d/3255.json