Intellectual deficit, X-linked - seizures - psoriasis

General Information (adopted from Orphanet):

Synonyms, Signs: Tranebjaerg-Svejgaard syndrome
Number of Symptoms 40
OrphanetNr: 3052
OMIM Id: 309480
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
4
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
5
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
6
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
7
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
8
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
9
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
10
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
11
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
12
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
13
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
14
 (HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
15
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
16
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
17
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
20
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
21
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
22
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
23
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
24
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
25
 (HPO:0001238) Slender finger Occasional [Orphanet] 23 / 7739
26
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
27
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
28
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
29
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
30
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
31
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
32
 (HPO:0003765) Psoriasis 17 / 7739
33
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
34
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
35
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
36
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
37
 (HPO:0001417) X-linked inheritance 173 / 7739
38
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
40
 (OMIM) Normal steroid sulfatase 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tranebjaerg et al. (1988) described 4 males, the sons of 2 sisters, with a syndrome of mental retardation, seizures, and psoriasis. Normal levels of steroid sulfatase excluded X-linked ichthyosis, which the lesions resembled somewhat at certain stages of ...