Gordon syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DA3
Arthrogryposis multiplex congenita, distal, type IIA
Distal arthrogryposis type 3
Camptodactyly, cleft palate, and clubfoot
Camptodactyly - cleft palate- clubfoot
Distal arthrogryposis type IIA
Number of Symptoms 36
OrphanetNr: 376
OMIM Id: 114300
ICD-10: Q87.8
UMLs:
MeSH: C537288
MedDRA:
Snomed: 237850008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
19571066 [IBIS]
Age of onset: Antenatal
Neonatal
19571066 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis
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
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Comment:

Mutations in PIEZO2 (= DA3; DA5; MWKS; DAIPT; FAM38B; HsT748; HsT771; FAM38B2; C18orf30; C18orf58) cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. PIEZO2 and PIEZO1 are large, transmembrane protein components of mechanically or stretch-activated ion channels found in many tissues (PMID:24726473). PIEZO2 is most prominently expressed in sensory trigeminal ganglia (TG) and dorsal root ganglia (DRG), Merkel cells, lung, and bladder (PMID:25305018).

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 24726473 IBIS 459 / 7739
2
 (HPO:0004322) Short stature Occasional [Orphanet] 24726473 IBIS 1232 / 7739
3
 (HPO:0011343) Moderate global developmental delay 27714920 IBIS 5 / 7739
4
 (HPO:0001249) Intellectual disability 27714920 IBIS 1089 / 7739
5
 (HPO:0100490) Camptodactyly of finger Very frequent [IBIS] Very frequent [Orphanet] 5345097 IBIS 212 / 7739
6
 (HPO:0005830) Flexion contracture of toe 5345097 IBIS 9 / 7739
7
 (HPO:0001220) Interphalangeal joint contracture of finger 5345097 IBIS 5 / 7739
8
 (HPO:0009803) Short phalanx of finger 5345097 IBIS 79 / 7739
9
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 5345097 IBIS 288 / 7739
10
 (HPO:0009465) Ulnar deviation of finger 5345097 IBIS 48 / 7739
11
 (HPO:0001840) Metatarsus adductus 19571066 IBIS 49 / 7739
12
 (HPO:0001836) Camptodactyly of toe 5345097 IBIS 27 / 7739
13
 (HPO:0001845) Overlapping toe 5345097 IBIS 18 / 7739
14
 (HPO:0001762) Talipes equinovarus Very frequent [IBIS] Very frequent [Orphanet] 19571066 IBIS 309 / 7739
15
 (HPO:0001838) Rocker bottom foot 19571066 IBIS 85 / 7739
16
 (HPO:0001848) Calcaneovalgus deformity 19571066 IBIS 12 / 7739
17
 (HPO:0003049) Ulnar deviation of the wrist 19571066 IBIS 6 / 7739
18
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 5345097 IBIS 17 / 7739
19
 (HPO:0002804) Arthrogryposis multiplex congenita Very frequent [IBIS] 19571066 IBIS 93 / 7739
20
 (HPO:0005684) Distal arthrogryposis Very frequent [IBIS] 19571066 IBIS 31 / 7739
21
 (HPO:0000347) Micrognathia 24726473 IBIS 426 / 7739
22
 (HPO:0002650) Scoliosis Occasional [Orphanet] 24726473 IBIS 705 / 7739
23
 (HPO:0000028) Cryptorchidism 5345097 IBIS 347 / 7739
24
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 5345097 IBIS 296 / 7739
25
 (HPO:0000324) Facial asymmetry 5345097 IBIS 57 / 7739
26
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 5345097 IBIS 298 / 7739
27
 (HPO:0000193) Bifid uvula 27714920 IBIS 66 / 7739
28
 (HPO:0000175) Cleft palate Very frequent [IBIS] 19571066 IBIS 349 / 7739
29
 (HPO:0000176) Submucous cleft hard palate 5345097 IBIS 19 / 7739
30
 (HPO:0012385) Camptodactyly 19571066 IBIS 113 / 7739
31
 (HPO:0005750) Contractures of the joints of the lower limbs 27714920 IBIS 5 / 7739
32
 (HPO:0100360) Contractures of the joints of the upper limbs 27714920 IBIS 3 / 7739
33
 (HPO:0007099) Arnold-Chiari type I malformation 24726473 IBIS 18 / 7739
34
 (OMIM) Flexion of fingers when hand dorsiflexed (pseudocamptodactyly) 19571066 IBIS 2 / 7739
35
 (OMIM) Hypoplastic flexion creases 19571066 IBIS 2 / 7739
36
 (OMIM) Overriding fingers (neonate) 19571066 IBIS 2 / 7739

Associated genes:

PIEZO2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009).

For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see ...
Clinical Description OMIM Gordon et al. (1969) described 6 affected persons (3 males, 3 females) in 3 generations. All 3 anomalies were present in 2 persons, whereas the other 4 persons had 1 or 2 of the 3 anomalies. Among the ...