Weaver syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WSS WEAVER-LIKE SYNDROME, INCLUDED
WEAVER-SMITH SYNDROME
WVS
Camptodactyly - overgrowth - unusual facies
Number of Symptoms 106
OrphanetNr: 3447
OMIM Id: 277590
ICD-10: Q87.3
UMLs: C0265210
MeSH: C536687
MedDRA:
Snomed: 63119004

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
3
 (HPO:0100673) Vaginal hydrocele 8 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0000034) Hydrocele testis 18 / 7739
6
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
7
 (HPO:0010751) Chin dimple 16 / 7739
8
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
10
 (HPO:0000286) Epicanthus 371 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0000303) Mandibular prognathia 179 / 7739
13
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
14
 (HPO:0000278) Retrognathia 100 / 7739
15
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
16
 (HPO:0005280) Depressed nasal bridge 381 / 7739
17
 (HPO:0002002) Deep philtrum Frequent [Orphanet] 42 / 7739
18
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
19
 (HPO:0000486) Strabismus 576 / 7739
20
 (HPO:0000400) Macrotia 108 / 7739
21
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
22
 (HPO:0001260) Dysarthria 329 / 7739
23
 (HPO:0000708) Behavioral abnormality 212 / 7739
24
 (HPO:0001350) Slurred speech 16 / 7739
25
 (HPO:0001263) Global developmental delay 853 / 7739
26
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
27
 (HPO:0001257) Spasticity 251 / 7739
28
 (HPO:0001249) Intellectual disability 1089 / 7739
29
 (HPO:0001250) Seizures 1245 / 7739
30
 (HPO:0000750) Delayed speech and language development 197 / 7739
31
 (HPO:0002591) Polyphagia 25 / 7739
32
 (HPO:0003186) Inverted nipples 15 / 7739
33
 (HPO:0002808) Kyphosis 289 / 7739
34
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
35
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
36
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
37
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
38
 (HPO:0012385) Camptodactyly 113 / 7739
39
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
40
 (HPO:0001377) Limited elbow extension 38 / 7739
41
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
42
 (HPO:0003066) Limited knee extension 4 / 7739
43
 (HPO:0004689) Short fourth metatarsal 9 / 7739
44
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
45
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
46
 (HPO:0011304) Broad thumb 39 / 7739
47
 (HPO:0001840) Metatarsus adductus 49 / 7739
48
 (HPO:0001845) Overlapping toe 18 / 7739
49
 (HPO:0200000) Dysharmonic bone age 3 / 7739
50
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
51
 (HPO:0002673) Coxa valga 57 / 7739
52
 (HPO:0003015) Flared metaphysis 44 / 7739
53
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
54
 (HPO:0003911) Flared humeral metaphysis 3 / 7739
55
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
56
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
57
 (HPO:0003950) Flared elbow metaphyses 2 / 7739
58
 (HPO:0001769) Broad foot Frequent [Orphanet] 31 / 7739
59
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
60
 (HPO:0009473) Joint contracture of the hand 84 / 7739
61
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
62
 (HPO:0009466) Radial deviation of finger 101 / 7739
63
 (HPO:0000773) Short ribs 70 / 7739
64
 (HPO:0002834) Flared femoral metaphysis 6 / 7739
65
 (HPO:0001212) Prominent fingertip pads 12 / 7739
66
 (HPO:0001540) Diastasis recti 23 / 7739
67
 (HPO:0001537) Umbilical hernia 206 / 7739
68
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
69
 (HPO:0000023) Inguinal hernia 181 / 7739
70
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
71
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
72
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
73
 (HPO:0001816) Thin nail 11 / 7739
74
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
75
 (HPO:0000973) Cutis laxa 43 / 7739
76
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
77
 (HPO:0008070) Sparse hair 94 / 7739
78
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
79
 (HPO:0001814) Deep-set nails 4 / 7739
80
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
81
 (HPO:0010300) Abnormally low-pitched voice 2 / 7739
82
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
83
 (HPO:0010547) Muscle flaccidity 466 / 7739
84
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
85
 (HPO:0001324) Muscle weakness 859 / 7739
86
 (HPO:0001252) Muscular hypotonia 990 / 7739
87
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
88
 (HPO:0001331) Absent septum pellucidum 16 / 7739
89
 (OMIM) Increased prenatal/postnatal length 1 / 7739
90
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
91
 (OMIM) Coarse, low-pitched voice 1 / 7739
92
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
93
 (OMIM) Increased pigmented nevi 1 / 7739
94
 (MedDRA:10058668) Clinodactyly 91 / 7739
95
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
96
 (OMIM) Prominent toe pads 1 / 7739
97
 (OMIM) Seizures, tonic-clonic or absence (in some patients) 1 / 7739
98
 (OMIM) Large bifrontal diameter 1 / 7739
99
 (OMIM) Round face in infancy 2 / 7739
100
 (OMIM) Carpal bone development advanced over that of other hand bones 1 / 7739
101
 (OMIM) Increased prenatal/postnatal weight 1 / 7739
102
 (OMIM) Thin, deep-set nails 2 / 7739
103
 (HPO:0030084) Clinodactyly 90 / 7739
104
 (OMIM) Weight more increased than height 1 / 7739
105
 (OMIM) Flattened occiput 3 / 7739
106
 (OMIM) Prominent chin crease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome ...
Diagnosis OMIM There has been considerable debate whether Sotos and Weaver syndromes are representative of locus or allelic heterogeneity (Cole, 1998; Opitz et al., 1998). The facial appearance is somewhat similar in the 2 disorders, but experienced dysmorphologists believe they ...
Clinical Description OMIM Weaver et al. (1974) described 2 'strikingly similar' unrelated male infants who had accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Dysmorphic facial features included large bifrontal diameter, flat occiput, ...
Molecular genetics OMIM Gibson et al. (2012) performed exome sequencing in 2 unrelated patients with Weaver syndrome, including 1 of the patients originally described by Weaver et al. (1974), and their 4 unaffected parents. In both patients, heterozygous de novo mutations ...