Stüve-Wiedemann syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SCHWARTZ-JAMPEL SYNDROME, NEONATAL
SCHWARTZ-JAMPEL SYNDROME, TYPE 2
STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
STWS
SJS2
SWS
Stüve-Wiedemann dysplasia
Number of Symptoms 121
OrphanetNr: 3206
OMIM Id: 601559
ICD-10: Q78.8
UMLs: C0432240
C0796176
MeSH: C537502
MedDRA:
Snomed: 254097005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing 366 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0011800) Midface retrusion 221 / 7739
4
 (HPO:0000682) Abnormality of dental enamel 102 / 7739
5
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000205) Pursed lips 6 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000321) Square face 4 / 7739
10
 (HPO:0003196) Short nose 264 / 7739
11
 (HPO:0010298) Smooth tongue 2 / 7739
12
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
13
 (HPO:0000581) Blepharophimosis 197 / 7739
14
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
15
 (HPO:0007957) Corneal opacity 84 / 7739
16
 (HPO:0008000) Decreased corneal reflex 2 / 7739
17
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
18
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
19
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
20
 (HPO:0000369) Low-set ears 372 / 7739
21
 (HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
22
 (HPO:0007328) Impaired pain sensation 10 / 7739
23
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
24
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
25
 (HPO:0002270) Abnormality of the autonomic nervous system Very frequent [Orphanet] 22 / 7739
26
 (HPO:0006844) Absent patellar reflexes 2 / 7739
27
 (HPO:0002459) Dysautonomia 34 / 7739
28
 (HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
29
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
30
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
31
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
32
 (HPO:0005089) Abnormal metaphyseal trabeculation 3 / 7739
33
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
34
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
35
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
36
 (HPO:0009185) Contracture of the proximal interphalangeal joint of the 5th finger 3 / 7739
37
 (HPO:0004684) Talipes valgus 28 / 7739
38
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
39
 (HPO:0000939) Osteoporosis 129 / 7739
40
 (HPO:0000954) Single transverse palmar crease 162 / 7739
41
 (HPO:0004980) Metaphyseal rarefaction 1 / 7739
42
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
43
 (HPO:0002987) Elbow flexion contracture 64 / 7739
44
 (HPO:0001883) Talipes 12 / 7739
45
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
46
 (HPO:0009803) Short phalanx of finger 79 / 7739
47
 (HPO:0001181) Adducted thumb 31 / 7739
48
 (HPO:0006380) Knee flexion contracture 56 / 7739
49
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
50
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
51
 (HPO:0008824) Hypoplastic iliac body 3 / 7739
52
 (HPO:0002980) Femoral bowing 36 / 7739
53
 (HPO:0005736) Short tibia 19 / 7739
54
 (HPO:0012385) Camptodactyly 113 / 7739
55
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
56
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
57
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
58
 (HPO:0003015) Flared metaphysis 44 / 7739
59
 (HPO:0100865) Broad ischia 4 / 7739
60
 (HPO:0002982) Tibial bowing 36 / 7739
61
 (HPO:0004097) Deviation of finger 13 / 7739
62
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
63
 (HPO:0000883) Thin ribs 31 / 7739
64
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
65
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
66
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
67
 (HPO:0002756) Pathologic fracture 30 / 7739
68
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
69
 (HPO:0011968) Feeding difficulties 240 / 7739
70
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
71
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
72
 (HPO:0007610) Blotching pigmentation of the skin 3 / 7739
73
 (HPO:0000963) Thin skin 96 / 7739
74
 (HPO:0002092) Pulmonary hypertension 109 / 7739
75
 (HPO:0004964) Pulmonary arterial medial hypertrophy 2 / 7739
76
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
77
 (HPO:0001954) Episodic fever 27 / 7739
78
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
79
 (HPO:0002099) Asthma Frequent [Orphanet] 62 / 7739
80
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
81
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
82
 (HPO:0001609) Hoarse voice 34 / 7739
83
 (HPO:0001611) Nasal speech 48 / 7739
84
 (HPO:0002486) Myotonia 29 / 7739
85
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
86
 (HPO:0001324) Muscle weakness 859 / 7739
87
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
88
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
89
 (HPO:0010547) Muscle flaccidity 466 / 7739
90
 (OMIM) Camptodactyly with ulnar deviation 1 / 7739
91
 (OMIM) Undertubulation of the diaphyses 1 / 7739
92
 (OMIM) Bowed, short femora 4 / 7739
93
 (OMIM) Smooth tongue without fungiform papillae (in older children) 1 / 7739
94
 (OMIM) Poor dentition (in older children) 1 / 7739
95
 (OMIM) Congenital bowing of the long bones (lower extremity greater than upper extremity) 1 / 7739
96
 (OMIM) Normal intelligence 81 / 7739
97
 (OMIM) Chronic tooth abscesses 1 / 7739
98
 (OMIM) Wide nasal base 1 / 7739
99
 (OMIM) Absent corneal reflexes 2 / 7739
100
 (HPO:0012810) Wide nasal base 3 / 7739
101
 (OMIM) Flexion contractures of the toes 2 / 7739
102
 (OMIM) Long scapulae 1 / 7739
103
 (OMIM) Short, thick long bones 1 / 7739
104
 (OMIM) Facial myotonia 1 / 7739
105
 (HPO:0012745) Short palpebral fissure 47 / 7739
106
 (OMIM) Broad pubic bones 1 / 7739
107
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
108
 (OMIM) Progressive scoliosis 6 / 7739
109
 (OMIM) Bowed, short tibiae 4 / 7739
110
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
111
 (OMIM) Mottled enamel 1 / 7739
112
 (OMIM) Striation of the metaphyses 1 / 7739
113
 (OMIM) Postnatal short stature 4 / 7739
114
 (OMIM) Long bones have wide, flared metaphyses with decreased density 1 / 7739
115
 (OMIM) Relatively small ilia 1 / 7739
116
 (OMIM) Broad ischial bones 1 / 7739
117
 (OMIM) Prominent joints 4 / 7739
118
 (OMIM) Radiolucent metaphyses have abnormal trabecular pattern 1 / 7739
119
 (OMIM) Ulcers of the tongue due to decreased sensation 1 / 7739
120
 (OMIM) Decreased pain sensation in extremities 1 / 7739
121
 (OMIM) Broad coracoid processes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).

See ...
Clinical Description OMIM Stuve and Wiedemann (1971) reported 2 sisters and a first-cousin male with congenital bowing of the long bones. Other features included short stature, camptodactyly with ulnar deviation, and contractures of the elbows and fingers. Radiographically, the long bones ...
Molecular genetics OMIM In patients with Stuve-Wiedemann syndrome, Dagoneau et al. (2004) identified mutations in the leukemia inhibitory factor receptor gene (LIFR; see, e.g., 151443.0001-151443.0003). Some of the patients had been reported earlier by Al-Gazali et al. (1996, 2003), Chabrol et ...