Fetal akinesia deformation sequence

General Information (adopted from Orphanet):

Synonyms, Signs: FADS
Pena-Shokeir syndrome type 1
Arthrogryposis multiplex congenita - pulmonary hypoplasia
Number of Symptoms 60
OrphanetNr: 994
OMIM Id: 208150
300073
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.6 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
4
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
5
 (HPO:0000520) Proptosis 192 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000343) Long philtrum 262 / 7739
8
 (HPO:0000218) High palate 356 / 7739
9
 (HPO:0000506) Telecanthus 156 / 7739
10
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
11
 (HPO:0000476) Cystic hygroma Frequent [Orphanet] 22 / 7739
12
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000175) Cleft palate 349 / 7739
15
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
16
 (HPO:0000160) Narrow mouth 188 / 7739
17
 (HPO:0000437) Depressed nasal tip 17 / 7739
18
 (HPO:0000581) Blepharophimosis 197 / 7739
19
 (HPO:0000508) Ptosis 459 / 7739
20
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
21
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
22
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0003070) Elbow ankylosis 8 / 7739
25
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
26
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
27
 (HPO:0000883) Thin ribs 31 / 7739
28
 (HPO:0001838) Rocker bottom foot 85 / 7739
29
 (HPO:0003100) Slender long bone 45 / 7739
30
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
31
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
32
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
33
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
34
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
35
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
36
 (HPO:0010489) Absent palmar crease Very frequent [Orphanet] 5 / 7739
37
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
38
 (HPO:0001196) Short umbilical cord 4 / 7739
39
 (HPO:0001557) Prenatal movement abnormality Very frequent [Orphanet] 16 / 7739
40
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
41
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
42
 (HPO:0001622) Premature birth 100 / 7739
43
 (HPO:0006266) Small placenta 2 / 7739
44
 (HPO:0002244) Abnormality of the small intestine Occasional [Orphanet] 12 / 7739
45
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
46
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
47
 (HPO:0001518) Small for gestational age 107 / 7739
48
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
49
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
50
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
51
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
52
 (HPO:0003700) Generalized amyotrophy 39 / 7739
53
 (HPO:0001331) Absent septum pellucidum 16 / 7739
54
 (HPO:0003826) Stillbirth 30% [HPO:probinson] 40 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (HPO:0012745) Short palpebral fissure 47 / 7739
57
 (HPO:0000238) Hydrocephalus 278 / 7739
58
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
59
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
60
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: