Arthrogryposis multiplex congenita-whistling face syndrome
Synonyms: Illum syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis multiplex congenita-whistling face syndrome | Illum syndrome |
| fr | Syndrome d'arthrogrypose multiple congénitale-face de siffleur | Syndrome d'Illum |
| de | Arthrogryposis multiplex congenita-Whistling-face-Syndrom | Illum-Syndrom |
| es | Síndrome de artrogriposis múltiple congénita-cara de silbido | Síndrome de Illum |
| it | Artrogriposi multipla congenita - faccia da fischiatore | |
| nl | Arthrogryposis multiplex congenita - fluitmond-syndroom | Syndroom van Illum |
| pt | Síndrome de artrogripose múltipla congénita-face em assobio | Síndrome Illum |
| pl | Arteogrypoza - gwiżdżąca twarz | Zespół Illum |
| cs | Syndrom zahrnující arthrogryposis multiplex congenita a whistling face | Illumův syndrom |
| uk | Синдром множинного вродженого артрогрипозу та свистячого обличчя | Синдром Іллюма |
| zh | 先天性多发关节弯曲-吹口哨面容综合征 | Illum综合征 |
| tr | Artrogripozis multipleks konjenita Whistling-Face sendromu | İllum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208155 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | NTBT | index | validated |
| MONDO | 0008825 | E | validated | |
| MeSH | C538401 | E | validated | |
| UMLS | C1859711 | E | validated | |
| GARD | 792 | 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 (3):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003043 | Abnormality of the shoulder | |
| HP:0001181 | Adducted thumb | |
| HP:0000581 | Blepharophimosis | |
| HP:0000293 | Full cheeks | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0000160 | Narrow mouth | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000233 | Thin vermilion border | |
| HP:0000346 | Whistling appearance | |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0000201 | Pierre-Robin sequence | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0010751 | Chin dimple | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000364 | Hearing abnormality | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1150
- This record as JSON: /data/d/1150.json