ORPHA:2990
Autosomal recessive multiple pterygium syndrome
Synonyms: Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS · Escobar syndrome · Escobar variant multiple pterygium syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive multiple pterygium syndrome | Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS · Escobar syndrome · Escobar variant multiple pterygium syndrome |
| fr | Syndrome des ptérygiums multiples autosomique récessif | EVMPS · Syndrome d'Escobar · Syndrome des ptérygiums multiples autosomique récessif non létal |
| de | Multiples Pterygium-Syndrom, autosomal-rezessives | Autosomal-rezessives multiples Pterygium-Syndrom, nicht-letal · EVMPS · Escobar-Syndrom · Multiples Pterygium-Syndrom, Escobar-Variante |
| es | Síndrome de pterigium múltiple autosómico recesivo | EVMPS · Síndrome de Escobar · Síndrome de pterigium múltiple autosómico recesivo no letal · Síndrome de pterigium múltiple variante de Escobar |
| it | Sindrome da pterigi multipli, autosomica recessiva | EVMPS · Sindrome da pterigi multipli non letale, autosomica recessiva · Sindrome da pterigi multipli, variante di Escobar · Sindrome di Escobar |
| nl | Autosomaal recessief multipele pterygium-syndroom | Autosomaal recessief niet-letaal multipele pterygium-syndroom · EVMPS · Multipele pterygium-syndroom, Escobar-variant · Syndroom van Escobar |
| pt | Síndrome de pterígio múltiplo autossómica recessiva | EVMPS · Síndrome Escobar · Síndrome de pterígio múltiplo não letal autossómica recessiva · Síndrome de pterígio múltiplo variante Escobar |
| pl | Autosomalny recesywny zespół mnogich płetwistości | Autosomalny recesywny nieletalny zespół mnogich płetwistości · EVMPS · Zespół Escobara · Zespół mnogich płetwistości wariant Escobara |
| cs | Autozomálně recesivní syndrom mnohočetných pterygií | EVMPS · Autozomálně recesivní nonletální syndrom mnohočetných pterygií · Escobarův syndrom · Escobarova varianta syndromu mnohočetných pterygií |
| uk | Аутосомно-рецесивний синдром множинні птеригії | Аутосомно-рецесивний нелетальний синдром множинної птеригії · Синдром Ескобара · Синдром множинних птеригіумів за варіантом Ескобара · EVMPS |
| zh | 常染色体隐性遗传多灶性翼状胬肉综合征 | 常染色体隐性遗传性非致死性多发性翼状胬肉综合征 |
| tr | Otozomal resesif çoklu piterjiyum sendromu | EVMPS · Escobar sendromu · Çoklu piterjiyum sendromu, Escobar varyantı · Otozomal çekinik letal olmayan çoklu piterjiyum sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265000 | E | validated | |
| OMIM | 618469 | NTBT | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD26.40 | NTBT | index | validated |
| MONDO | 0009926 | E | validated | |
| UMLS | C0265261 | E | validated | |
| GARD | 7111 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294060Multiple pterygium syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHRNG | Disease-causing germline mutation(s) in | Assessed | HGNC:1967 | ENSG00000196811 | 100730 | 2q37.1 | cholinergic receptor nicotinic gamma subunit | 22167768[PMID] |
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 29805041[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30868735[PMID] |
| Cases/families | 64 cases | Worldwide | Case(s) | Validated | 30868735[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.
6
HPO phenotypes
65 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0009760 | Antecubital pterygium | |
| HP:0001060 | Axillary pterygia | |
| HP:0006101 | Finger syndactyly | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001040 | Multiple pterygia | |
| HP:0000767 | Pectus excavatum | |
| HP:0009756 | Popliteal pterygium | |
| HP:0002650 | Scoliosis | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000135 | Hypogonadism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000202 | Orofacial cleft | |
| HP:0000307 | Pointed chin | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0000506 | Telecanthus | |
| HP:0001537 | Umbilical hernia | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0008729 | Absence of labia majora | |
| HP:0004942 | Aortic aneurysm | |
| HP:0000175 | Cleft palate | |
| HP:0100543 | Cognitive impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0000364 | Hearing abnormality | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000023 | Inguinal hernia | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0003764 | Nevus | |
| HP:0001059 | Pterygium | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000902 | Rib fusion | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000046 | Small scrotum | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000486 | Strabismus | |
Run the differential on the 11 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2990
- This record as JSON: /data/d/2990.json