Van den Ende-Gupta syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES
MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION
VDEGS
Marden-Walker-like syndrome
Number of Symptoms 73
OrphanetNr: 2460
OMIM Id: 600920
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -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
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0000647) Sclerocornea rare [HPO:skoehler] 25 / 7739
3
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
4
 (HPO:0001195) Single umbilical artery 23 / 7739
5
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
6
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
7
 (HPO:0003031) Ulnar bowing 16 / 7739
8
 (HPO:0002980) Femoral bowing 36 / 7739
9
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
11
 (HPO:0001166) Arachnodactyly 62 / 7739
12
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
13
 (HPO:0001822) Hallux valgus Very frequent [Orphanet] 70 / 7739
14
 (HPO:0001847) Long hallux 13 / 7739
15
 (HPO:0001836) Camptodactyly of toe 27 / 7739
16
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
17
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
18
 (HPO:0001786) Narrow foot 11 / 7739
19
 (HPO:0006380) Knee flexion contracture 56 / 7739
20
 (HPO:0003083) Dislocated radial head 35 / 7739
21
 (HPO:0005033) Distal ulnar hypoplasia 4 / 7739
22
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
23
 (HPO:0010493) Long metacarpals 1 / 7739
24
 (HPO:0006236) Slender metacarpals 2 / 7739
25
 (HPO:0009473) Joint contracture of the hand 84 / 7739
26
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
27
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
28
 (HPO:0002987) Elbow flexion contracture 64 / 7739
29
 (HPO:0006633) Glenoid fossa hypoplasia 2 / 7739
30
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
31
 (HPO:0001363) Craniosynostosis 132 / 7739
32
 (HPO:0000895) Lateral clavicle hook 11 / 7739
33
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
34
 (HPO:0000883) Thin ribs 31 / 7739
35
 (HPO:0000767) Pectus excavatum 244 / 7739
36
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
37
 (HPO:0003100) Slender long bone Frequent [Orphanet] 45 / 7739
38
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
39
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
40
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
41
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
42
 (HPO:0000175) Cleft palate 349 / 7739
43
 (HPO:0000218) High palate 356 / 7739
44
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
45
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
46
 (HPO:0000678) Dental crowding 65 / 7739
47
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
48
 (HPO:0000460) Narrow nose 14 / 7739
49
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
50
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
51
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
52
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
53
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
54
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
55
 (HPO:0000411) Protruding ear 140 / 7739
56
 (HPO:0001371) Flexion contracture 220 / 7739
57
 (HPO:0012385) Camptodactyly 113 / 7739
58
 (HPO:0010307) Stridor 19 / 7739
59
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
62
 (OMIM) Cerebellar enlargement 1 / 7739
63
 (OMIM) Downslanting eyebrows 2 / 7739
64
 (OMIM) Globular cuneiform cartilage 1 / 7739
65
 (OMIM) Hypoplastic distal digital creases 1 / 7739
66
 (OMIM) Long thumbs 2 / 7739
67
 (OMIM) Long, slender metacarpals 1 / 7739
68
 (OMIM) Long, slender phalanges 1 / 7739
69
 (OMIM) Normal intelligence 81 / 7739
70
 (OMIM) Shortened aryepiglottic folds 1 / 7739
71
 (OMIM) Slender hands 2 / 7739
72
 (OMIM) Small anterior cranial fossa 1 / 7739
73
 (OMIM) Tightly coiled epiglottis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gupta et al. (1995) suggested that the disorder in the Brazilian girl, born to a consanguineous couple, reported by van den Ende et al. (1992) as a 'Marden-Walker-like syndrome without psychomotor retardation' had a distinct disorder and that ...
Molecular genetics OMIM In 4 patients from 3 consanguineous Qatari families with van den Ende-Gupta syndrome, Anastasio et al. (2010) analyzed candidate genes and identified homozygosity for a missense mutation in 2 cousins from 1 kindred (613619.0001) and a 2-bp deletion ...