FETAL AKINESIA DEFORMATION SEQUENCE

General Information (adopted from Orphanet):

Synonyms, Signs: PENA-SHOKEIR SYNDROME, TYPE I
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA
FETAL AKINESIA SEQUENCE
FADS
Number of Symptoms 39
OrphanetNr:
OMIM Id: 208150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000160) Narrow mouth 188 / 7739
3
(HPO:0000506) Telecanthus 156 / 7739
4
(HPO:0000437) Depressed nasal tip 17 / 7739
5
(HPO:0000347) Micrognathia 426 / 7739
6
(HPO:0000316) Hypertelorism 644 / 7739
7
(HPO:0000343) Long philtrum 262 / 7739
8
(HPO:0000520) Proptosis 192 / 7739
9
(HPO:0000218) High palate 356 / 7739
10
(HPO:0000470) Short neck 345 / 7739
11
(HPO:0000175) Cleft palate 349 / 7739
12
(HPO:0000581) Blepharophimosis 197 / 7739
13
(HPO:0000508) Ptosis 459 / 7739
14
(HPO:0012385) Camptodactyly 113 / 7739
15
(HPO:0000883) Thin ribs 31 / 7739
16
(HPO:0005257) Thoracic hypoplasia 79 / 7739
17
(HPO:0001762) Talipes equinovarus 309 / 7739
18
(HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
19
(HPO:0003070) Elbow ankylosis 8 / 7739
20
(HPO:0001838) Rocker bottom foot 85 / 7739
21
(HPO:0003100) Slender long bone 45 / 7739
22
(HPO:0001561) Polyhydramnios 191 / 7739
23
(HPO:0001518) Small for gestational age 107 / 7739
24
(HPO:0001511) Intrauterine growth retardation 358 / 7739
25
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
26
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
27
(HPO:0000238) Hydrocephalus 278 / 7739
28
(OMIM) Poorly folded ears 1 / 7739
29
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
30
(OMIM) Knee ankylosis 1 / 7739
31
(OMIM) Small, posteriorly rotated ears 1 / 7739
32
(OMIM) Hip ankylosis 1 / 7739
33
(HPO:0001331) Absent septum pellucidum 16 / 7739
34
(OMIM) Rigid, expressionless face 1 / 7739
35
(HPO:0002126) Polymicrogyria 64 / 7739
36
(OMIM) Absent or sparse dermal ridges 1 / 7739
37
(OMIM) Short-gut syndrome 1 / 7739
38
(OMIM) Ankle ankylosis 1 / 7739
39
(HPO:0002389) Cavum septum pellucidum 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It ...
Clinical Description OMIM Pena and Shokeir (1974, 1976) described patients with a lethal congenital syndrome comprising camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia. Affected sibs born of consanguineous parents indicated autosomal recessive inheritance. Punnett et al. (1974) and Mease et ...
Molecular genetics OMIM In 3 offspring of consanguineous parents with fetal akinesia deformation sequence, Vogt et al. (2008) identified homozygosity for a frameshift mutation in the RAPSN gene (601592.0012). The mutation was demonstrated to severely impair protein stability.

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