FOXP1 Syndrome
Synonyms: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FOXP1 Syndrome | FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome |
| fr | Syndrome FOXP1 | Syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée associé à FOXP1 |
| de | FOXP1-Syndrom | Intelligenzminderung-ausgeprägte Sprachverzögerung-milde Dysmorphien-Syndrom, FOXP1-assoziiert |
| es | Síndrome FOXP1 | Síndrome de discapacidad intelectual-retraso del habla grave-dismorfia leve asociado a FOXP1 |
| it | Sindrome FOXP1 | Sindrome dismorfismo lieve-ritardo grave del linguaggio-disabilità intellettiva correlata a FOXP1 |
| nl | FOXP1-syndroom | FOXP1-gerelateerd intellectuele achterstand - ernstige spraakachterstand - milde dysmorfie-syndroom |
| pt | Síndrome FOXP1 | Síndrome de perturbação do desenvolvimento intelectual-atraso grave de linguagem-dismorfia ligeira FOXP1-relacionada |
| pl | Zespół niepełnosprawność intelektualna-znaczne opóźnienie mowy-łagodny dysmorfizm | Zespół FOXP1 |
| cs | Syndrom zahrnující mentální retardaci, těžké opoždění vývoje řeči a mírný dysmorfismus | = en |
| uk | Синдром FOXP1 | FOXP1-повторна інтелектуальна недостатність-тяжка затримка мовлення-легкий синдром дизморфізму |
| zh | 智力障碍-重度言语延迟-轻度畸形综合征 | FOXP1综合征 |
| tr | Zihinsel yetersizlik-ağır konuşma gecikmesi-hafif dismorfizm sendromu | FOXP1 sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613670 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0013352 | E | validated | |
| UMLS | C5925034 | E | validated | |
| GARD | 12501 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3823 | ENSG00000114861 | 605515 | 3p13 | forkhead box P1 | 24214399[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | 28735298[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28735298[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.
HPO phenotypes
60 annotations · validated 2019-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002474 | Expressive language delay | |
| HP:0011220 | Prominent forehead | |
| HP:0009088 | Speech articulation difficulties | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000539 | Abnormality of refraction | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000455 | Broad nasal tip | |
| HP:0011823 | Chin with horizontal crease | |
| HP:0002019 | Constipation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0002236 | Frontal upsweep of hair | |
| HP:0000316 | Hypertelorism | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001270 | Motor delay | |
| HP:0000194 | Open mouth | |
| HP:0007301 | Oromotor apraxia | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0000508 | Ptosis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0000736 | Short attention span | |
| HP:0003196 | Short nose | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0000598 | Abnormality of the ear | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0012393 | Allergy | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000581 | Blepharophimosis | |
| HP:0030084 | Clinodactyly | |
| HP:0040303 | Decreased serum iron | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002353 | EEG abnormality | |
| HP:0008589 | Hypoplastic helices | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000256 | Macrocephaly | |
| HP:0000639 | Nystagmus | |
| HP:0025502 | Overweight | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26647308[PMID]_29090079[PMID]_28735298[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391372
- This record as JSON: /data/d/391372.json