ORPHA:994
Fetal akinesia deformation sequence
Synonyms: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS · Pena-Shokeir syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal akinesia deformation sequence | Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS · Pena-Shokeir syndrome type 1 |
| fr | Séquence d'akinésie foetale | Syndrome d'arthrogrypose multiple congénitale-hypoplasie pulmonaire · Syndrome de Pena-Shokeir type 1 |
| de | Fetale Akinesie/Hypokinesie-Sequenz | Arthrogryposis multiplex congenita mit Lungenhypoplasie · FADS · Pena-Shokeir-Syndrom Typ 1 |
| es | Secuencia deformante de aquinesia fetal | Artrogriposis múltiple congénita-hipoplasia pulmonar · FADS · Síndrome de Pena-Shokeir tipo 1 |
| it | Sequenza dell'acinesia fetale | Artrogriposi multipla congenita - ipoplasia polmonare · FADS · Sindrome di Pena-Shokeir, tipo 1 |
| nl | Foetale akinesie - deformatie-sequentie | Arthrogryposis multiplex congenita - pulmonale hypoplasie-syndroom · FADS · Syndroom van Pena-Shokeir type 1 |
| pt | Sequência de deformação de acinesia fetal | |
| pl | Sekwencja deformacyjna akinazji płodu | Artrogrypoza - hipoplazja płuc · FADS · Zespół Pena i Shokeira typu 1 |
| cs | Deformace plodu způsobené akinezí/nehybností | Syndrom zahrnující artrogryposis multiplex congenita a pulmonální hypoplázii · FADS · Penaův-Shokeirův syndrom, typ 1 · Pena-Shokeirův syndrom, typ 1 |
| uk | Послідовність деформації акінезії плода | Синдром множинного артрогрипозу-вродженої легеневої гіпоплазії · FADS · Синдром Пена-Шокіра, тип 1 |
| zh | 胎儿运动迟缓/运动减退序列 | 关节挛缩多发性先天性-肺发育不全综合征 |
| tr | Fetal akinezi deformasyon dizisi | FADS · Pena-Shokeir sendromu tip 1 · Artrogripozis multipleks konjenita-pulmoner hipoplazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208150 | E | validated | |
| OMIM | 300073 | BTNT | validated | |
| OMIM | 617194 | BTNT | validated | |
| OMIM | 618388 | BTNT | validated | |
| OMIM | 618389 | BTNT | validated | |
| OMIM | 618393 | BTNT | validated | |
| OMIM | 618975 | ND | not yet validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 100101 | E | validated | |
| MeSH | C536647 | E | validated | |
| UMLS | C1276035 | E | validated | |
| GARD | 9634 | 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 (6):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - 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:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:995X-linked fetal akinesia syndrome moved to · inactive
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOK7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26594 | ENSG00000175920 | 610285 | 4p16.3 | docking protein 7 | 19261599[PMID] |
| KIF21A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19349 | ENSG00000139116 | 608283 | 12q12 | kinesin family member 21A | 34740919[PMID] |
| MUSK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7525 | ENSG00000030304 | 601296 | 9q31.3 | muscle associated receptor tyrosine kinase | 25612909[PMID]_25537362[PMID] |
| MYOD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7611 | ENSG00000129152 | 159970 | 11p15.1 | myogenic differentiation 1 | 26733463[PMID] |
| NUP88 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8067 | ENSG00000108559 | 602552 | 17p13.2 | nucleoporin 88 | 30543681[PMID] |
| RAPSN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9863 | ENSG00000165917 | 601592 | 11p11.2 | receptor associated protein of the synapse | 18179903[PMID] |
| GLDN | Disease-causing germline mutation(s) in | Assessed | HGNC:29514 | ENSG00000186417 | 608603 | 15q21.2 | gliomedin | 32812332[PMID] |
| MAGEL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6814 | ENSG00000254585 | 605283 | 15q11.2 | MAGE family member L2 | 26365340[PMID] |
| SLC18A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10936 | ENSG00000187714 | 600336 | 10q11.23 | solute carrier family 18 member A3 | 31059209[PMID] |
| TUBA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:20766 | ENSG00000167552 | 602529 | 12q13.12 | tubulin alpha 1a | 35686685[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010489 | Absent palmar crease | |
| HP:0002304 | Akinesia | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001989 | Fetal akinesia sequence | |
| HP:0002375 | Hypokinesia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0002828 | Multiple joint contractures | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000476 | Cystic hygroma | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0000316 | Hypertelorism | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005245 | Intestinal hypoplasia | |
| HP:0001059 | Pterygium | |
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/994
- This record as JSON: /data/d/994.json