Wilson-Turner syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY
MENTAL RETARDATION, X-LINKED, SYNDROMIC 6
WTS
MRXS6
X-linked intellectual deficit - gynecomastia - obesity
Number of Symptoms 111
OrphanetNr: 3459
OMIM Id: 309585
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 14 cases [Orphanet]
Inheritance: X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism Occasional [Orphanet] 347 / 7739
2
 (HPO:0008689) Bilateral cryptorchidism Occasional [Orphanet] occasional [HPO] 38 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0012646) Retractile testis Occasional [Orphanet] 8 / 7739
5
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
6
 (HPO:0000135) Hypogonadism 89 / 7739
7
 (HPO:0008736) Hypoplasia of penis Occasional [Orphanet] 7 / 7739
8
 (HPO:0000692) Misalignment of teeth 18 / 7739
9
 (HPO:0000414) Bulbous nose 63 / 7739
10
 (HPO:0000490) Deeply set eye 131 / 7739
11
 (HPO:0002648) Abnormality of calvarial morphology Occasional [Orphanet] 2 / 7739
12
 (HPO:0000252) Microcephaly 832 / 7739
13
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
14
 (HPO:0000278) Retrognathia 100 / 7739
15
 (HPO:0000677) Oligodontia Occasional [Orphanet] 41 / 7739
16
 (HPO:0000232) Everted lower lip vermilion Occasional [Orphanet] 90 / 7739
17
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 189 / 7739
18
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
19
 (HPO:0000668) Hypodontia Occasional [Orphanet] 81 / 7739
20
 (HPO:0002209) Sparse scalp hair Occasional [Orphanet] 59 / 7739
21
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
22
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
23
 (HPO:0000455) Broad nasal tip 67 / 7739
24
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
25
 (HPO:0005469) Flat occiput Occasional [Orphanet] 30 / 7739
26
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
27
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
28
 (HPO:0000307) Pointed chin Occasional [Orphanet] 45 / 7739
29
 (HPO:0000674) Anodontia Occasional [Orphanet] 18 / 7739
30
 (HPO:0008551) Microtia Occasional [Orphanet] 98 / 7739
31
 (HPO:0002321) Vertigo Occasional [Orphanet] 58 / 7739
32
 (HPO:0011252) Cryptotia Occasional [Orphanet] 2 / 7739
33
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
34
 (HPO:0000385) Small earlobe Occasional [Orphanet] 9 / 7739
35
 (HPO:0100830) Round ear Occasional [Orphanet] 7 / 7739
36
 (HPO:0009892) Anotia Occasional [Orphanet] 8 / 7739
37
 (HPO:0000400) Macrotia Occasional [Orphanet] 108 / 7739
38
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Occasional [Orphanet] 41 / 7739
39
 (HPO:0009907) Attached earlobe Occasional [Orphanet] 2 / 7739
40
 (HPO:0009748) Large earlobe Occasional [Orphanet] 27 / 7739
41
 (HPO:0000413) Atresia of the external auditory canal Occasional [Orphanet] 32 / 7739
42
 (HPO:0000387) Absent earlobe Occasional [Orphanet] 5 / 7739
43
 (HPO:0002381) Aphasia Frequent [Orphanet] 27 / 7739
44
 (HPO:0001270) Motor delay Occasional [Orphanet] 322 / 7739
45
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
46
 (HPO:0000712) Emotional lability 44 / 7739
47
 (HPO:0002357) Dysphasia Frequent [Orphanet] 33 / 7739
48
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 1089 / 7739
49
 (HPO:0000750) Delayed speech and language development 197 / 7739
50
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
51
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 327 / 7739
52
 (HPO:0010529) Echolalia Frequent [Orphanet] 20 / 7739
53
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
54
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
55
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 114 / 7739
56
 (HPO:0001263) Global developmental delay Occasional [Orphanet] 853 / 7739
57
 (HPO:0002300) Mutism Frequent [Orphanet] 28 / 7739
58
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
59
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
60
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 413 / 7739
61
 (HPO:0002200) Pseudobulbar signs 15 / 7739
62
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
63
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
64
 (HPO:0002311) Incoordination Occasional [Orphanet] 84 / 7739
65
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
66
 (HPO:0008376) Nasal, dysarthic speech Occasional [Orphanet] 8 / 7739
67
 (HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
68
 (HPO:0010313) Breast hypertrophy Frequent [Orphanet] 6 / 7739
69
 (HPO:0000823) Delayed puberty 65 / 7739
70
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
71
 (HPO:0001369) Arthritis Occasional [Orphanet] 44 / 7739
72
 (HPO:0002758) Osteoarthritis Occasional [Orphanet] occasional [HPO] 78 / 7739
73
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
74
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] occasional [HPO] 141 / 7739
75
 (HPO:0002808) Kyphosis 289 / 7739
76
 (HPO:0001238) Slender finger Occasional [Orphanet] 23 / 7739
77
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
78
 (HPO:0001773) Short foot 86 / 7739
79
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
80
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
81
 (HPO:0100601) Eclampsia Occasional [Orphanet] 6 / 7739
82
 (HPO:0100602) Preeclampsia Occasional [Orphanet] 9 / 7739
83
 (HPO:0100603) Toxemia of pregnancy Occasional [Orphanet] 7 / 7739
84
 (HPO:0008071) Maternal hypertension Occasional [Orphanet] 6 / 7739
85
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
86
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
87
 (HPO:0001956) Truncal obesity 39 / 7739
88
 (HPO:0004322) Short stature 1232 / 7739
89
 (HPO:0004528) Generalized hypotrichosis Occasional [Orphanet] 18 / 7739
90
 (HPO:0001007) Hirsutism Occasional [Orphanet] 91 / 7739
91
 (HPO:0004554) Generalized hypertrichosis Occasional [Orphanet] 30 / 7739
92
 (HPO:0000998) Hypertrichosis Occasional [Orphanet] 52 / 7739
93
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
94
 (HPO:0002230) Generalized hirsutism Occasional [Orphanet] 32 / 7739
95
 (HPO:0001065) Striae distensae Occasional [Orphanet] 26 / 7739
96
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
97
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
98
 (HPO:0001611) Nasal speech Occasional [Orphanet] 48 / 7739
99
 (HPO:0100271) Hyponasal speech Occasional [Orphanet] 7 / 7739
100
 (HPO:0001324) Muscle weakness 859 / 7739
101
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
102
 (HPO:0001252) Muscular hypotonia 990 / 7739
103
 (HPO:0010547) Muscle flaccidity 466 / 7739
104
 (HPO:0003199) Decreased muscle mass 27 / 7739
105
 (OMIM) Short ears 2 / 7739
106
 (OMIM) Long columella 3 / 7739
107
 (OMIM) Thin upper vermilion 3 / 7739
108
 (Orphanet:20300) Irregular length/shape of fingers Occasional [Orphanet] 1 / 7739
109
 (Orphanet:9200) Protruding lips Occasional [Orphanet] 4 / 7739
110
 (OMIM) High malar bones 1 / 7739
111
 (Orphanet:13140) Long/large ear Occasional [Orphanet] 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males (summary by Harakalova et al., 2012).
Clinical Description OMIM Wilson et al. (1991) described a kindred in which males in 5 successive generations in an X-linked recessive pedigree pattern had a mental retardation syndrome. The 14 living males in the 3 most recent generations permitted definition of ...
Molecular genetics OMIM By next-generation sequencing of the chromosome X exome in 5 members of a Dutch family with syndromic X-linked mental retardation, Harakalova et al. (2012) identified a mutation in the HDAC8 gene (300269.0001). Female carriers showed complex X inactivation, ...