W syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: W SYNDROME
Pallister-W syndrome
Number of Symptoms 57
OrphanetNr: 2804
OMIM Id: 311450
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
3
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
4
 (HPO:0000506) Telecanthus 156 / 7739
5
 (HPO:0006289) Agenesis of central incisor 3 / 7739
6
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
7
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
8
 (HPO:0000161) Median cleft lip Frequent [Orphanet] 27 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0010809) Broad uvula 1 / 7739
11
 (HPO:0000455) Broad nasal tip 67 / 7739
12
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
13
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
14
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
15
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
17
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
18
 (HPO:0006293) Agenesis of maxillary central incisor 1 / 7739
19
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
20
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
21
 (HPO:0002007) Frontal bossing 366 / 7739
22
 (HPO:0001137) Alternating esotropia 4 / 7739
23
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
24
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
25
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
28
 (HPO:0001257) Spasticity 251 / 7739
29
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
30
 (HPO:0002986) Radial bowing 27 / 7739
31
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
32
 (HPO:0001763) Pes planus 176 / 7739
33
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
34
 (HPO:0009466) Radial deviation of finger 101 / 7739
35
 (HPO:0001840) Metatarsus adductus 49 / 7739
36
 (HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
37
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
38
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
39
 (HPO:0009473) Joint contracture of the hand 84 / 7739
40
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
41
 (HPO:0012385) Camptodactyly 113 / 7739
42
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
43
 (HPO:0001061) Acne Very frequent [Orphanet] 33 / 7739
44
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
45
 (HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
46
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
47
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
48
 (OMIM) Frontal prominence 2 / 7739
49
 (OMIM) Limited elbow motion due to subluxation 1 / 7739
50
 (HPO:0030084) Clinodactyly 90 / 7739
51
 (MedDRA:10058668) Clinodactyly 91 / 7739
52
 (OMIM) Mild spasticity 3 / 7739
53
 (OMIM) Midline notch of upper lip 1 / 7739
54
 (OMIM) Anterior cowlick 1 / 7739
55
 (HPO:0001417) X-linked inheritance 173 / 7739
56
 (OMIM) Absent upper central incisors 1 / 7739
57
 (OMIM) Flat nasal bridge Broad nasal tip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: