Wiedemann-Steiner syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WIEDEMANN-STEINER SYNDROME
WDSTS
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Number of Symptoms 44
OrphanetNr: 319182
OMIM Id: 605130
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
Unknown
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -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:0000574) Thick eyebrow 96 / 7739
2
 (HPO:0000286) Epicanthus 371 / 7739
3
 (HPO:0000581) Blepharophimosis 197 / 7739
4
 (HPO:0012368) Flat face 106 / 7739
5
 (HPO:0000445) Wide nose 190 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0000343) Long philtrum 262 / 7739
11
 (HPO:0002263) Exaggerated cupid's bow 15 / 7739
12
 (HPO:0000527) Long eyelashes rare [HPO:skoehler] 46 / 7739
13
 (HPO:0000664) Synophrys 112 / 7739
14
 (HPO:0011231) Prominent eyelashes 9 / 7739
15
 (HPO:0000486) Strabismus 576 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0000718) Aggressive behavior 109 / 7739
18
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0002136) Broad-based gait 30 / 7739
21
 (HPO:0000750) Delayed speech and language development 197 / 7739
22
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
23
 (HPO:0002750) Delayed skeletal maturation rare [HPO:skoehler] 250 / 7739
24
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
25
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
26
 (HPO:0001182) Tapered finger rare [HPO:skoehler] 93 / 7739
27
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
28
 (HPO:0009803) Short phalanx of finger 79 / 7739
29
 (HPO:0000960) Sacral dimple rare [HPO:skoehler] 29 / 7739
30
 (HPO:0001831) Short toe 52 / 7739
31
 (HPO:0002019) Constipation rare [HPO:skoehler] 194 / 7739
32
 (HPO:0001508) Failure to thrive 454 / 7739
33
 (HPO:0004322) Short stature 1232 / 7739
34
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
35
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0010547) Muscle flaccidity 466 / 7739
38
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
39
 (OMIM) Hairy elbows 1 / 7739
40
 (OMIM) [DEL]Autistic features 43 / 7739
41
 (OMIM) Poor growth in infancy 2 / 7739
42
 (OMIM) Slim, muscular build (in some patients) 1 / 7739
43
 (OMIM) Hypertrichosis, patchy (in some patients) 1 / 7739
44
 (OMIM) Dysmorphic ears 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wiedemann et al. (1989) reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, hypertelorism, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included ...
Molecular genetics OMIM Jones et al. (2012) performed whole-exome sequencing in 4 patients with hypertrichosis cubiti, short stature, a distinctive facial appearance, and intellectual disability, and identified heterozygous de novo truncating mutations in the MLL gene (159555.0001-159555.0003) in 3 of the ...