Schwartz-Jampel syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SCHWARTZ-JAMPEL SYNDROME
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES
SJA SYNDROME
CHONDRODYSTROPHIC MYOTONIA
SJS1
SJS
Burton syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Catel-Hempel syndrome
schwartz-jampel-aberfeld syndrome
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Aberfeld syndrome
Burton disease
Osteochondromuscular dystrophy
Burton skeletal dysplasia
Schwartz-Jampel syndrome type 1
Number of Symptoms 142
OrphanetNr: 800
OMIM Id: 255800
ICD-10: G71.1
UMLs: C0036391
MeSH:
MedDRA:
Snomed: 29145002

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myotonia
 -Rare genetic disease
 -Rare neurologic disease
Perlecan-related bone disorder
 -Rare genetic disease
Progressive muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of perlecan
 -Rare genetic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic myopia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
2
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
3
 (HPO:0008714) Ureterovesical stenosis Occasional [Orphanet] 10 / 7739
4
 (HPO:0100813) Testicular torsion Occasional [Orphanet] 3 / 7739
5
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
8
 (HPO:0000499) Abnormality of the eyelashes Occasional [Orphanet] 35 / 7739
9
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
10
 (HPO:0007740) Long eyelashes in irregular rows 1 / 7739
11
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
12
 (HPO:0100612) Odontogenic neoplasm Occasional [Orphanet] 5 / 7739
13
 (HPO:0000272) Malar flattening 277 / 7739
14
 (HPO:0000294) Low anterior hairline Occasional [Orphanet] 52 / 7739
15
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
16
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
19
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
20
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
21
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
22
 (HPO:0009743) Distichiasis Occasional [Orphanet] 9 / 7739
23
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
24
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
25
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
26
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
27
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
28
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
29
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 22 / 7739
30
 (HPO:0000205) Pursed lips 6 / 7739
31
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
32
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
33
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
34
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
35
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
36
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
37
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
38
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
39
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
40
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
41
 (HPO:0000396) Overfolded helix 21 / 7739
42
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
43
 (HPO:0000369) Low-set ears 372 / 7739
44
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
45
 (HPO:0001265) Hyporeflexia 208 / 7739
46
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
47
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
48
 (HPO:0001249) Intellectual disability 1089 / 7739
49
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
50
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
51
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
52
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
53
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
54
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
55
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
56
 (HPO:0009473) Joint contracture of the hand 84 / 7739
57
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
58
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
59
 (HPO:0100490) Camptodactyly of finger 212 / 7739
60
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
61
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
62
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
63
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
64
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
65
 (HPO:0001374) Congenital hip dislocation 51 / 7739
66
 (HPO:0002812) Coxa vara 58 / 7739
67
 (HPO:0000939) Osteoporosis 129 / 7739
68
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
69
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
70
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
71
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
72
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
73
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
74
 (HPO:0002673) Coxa valga 57 / 7739
75
 (HPO:0003016) Metaphyseal widening 41 / 7739
76
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
77
 (HPO:0006499) Abnormality of femoral epiphysis 3 / 7739
78
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
79
 (HPO:0002751) Kyphoscoliosis 131 / 7739
80
 (HPO:0005830) Flexion contracture of toe 9 / 7739
81
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
82
 (HPO:0003179) Protrusio acetabuli Occasional [Orphanet] 37 / 7739
83
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
84
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
85
 (HPO:0004684) Talipes valgus Very frequent [Orphanet] 28 / 7739
86
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
87
 (HPO:0100795) Abnormally straight spine Occasional [Orphanet] 2 / 7739
88
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
89
 (HPO:0006473) Anterior bowing of long bones 1 / 7739
90
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
91
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
92
 (HPO:0003273) Hip contracture 30 / 7739
93
 (HPO:0001239) Wrist flexion contracture 13 / 7739
94
 (HPO:0003044) Shoulder flexion contracture 5 / 7739
95
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
96
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
97
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
98
 (HPO:0003306) Spinal rigidity Frequent [Orphanet] 30 / 7739
99
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
100
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
101
 (HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
102
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
103
 (HPO:0000023) Inguinal hernia 181 / 7739
104
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
105
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
106
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
107
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
108
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
109
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
110
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
111
 (HPO:0002230) Generalized hirsutism 32 / 7739
112
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
113
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
114
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
115
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
116
 (HPO:0001621) Weak voice 5 / 7739
117
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
118
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
119
 (HPO:0001620) High pitched voice 32 / 7739
120
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
121
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
122
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
123
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
124
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
125
 (HPO:0003712) Skeletal muscle hypertrophy Frequent [Orphanet] 42 / 7739
126
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
127
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
128
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
129
 (HPO:0002486) Myotonia Very frequent [Orphanet] 29 / 7739
130
 (OMIM) Low hairline 4 / 7739
131
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
132
 (OMIM) Small, high-pitched voice 1 / 7739
133
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
134
 (OMIM) Normal face at birth 1 / 7739
135
 (OMIM) Elbow, knee, shoulder contractures 1 / 7739
136
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
137
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
138
 (OMIM) Slender diaphysis 1 / 7739
139
 (OMIM) EMG - repetitive muscle discharges 1 / 7739
140
 (OMIM) Fragmentation of femoral epiphyses 1 / 7739
141
 (OMIM) Sad, fixed facies 1 / 7739
142
 (OMIM) Flattened femoral epiphyses 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aberfeld et al. (1965) described brother and sister with an apparently progressive disorder characterized by short stature, myotonic myopathy, dystrophy of epiphyseal cartilages, joint contractures, blepharophimosis, unusual pinnae, myopia, and pigeon breast. The same sibs had previously been ...
Molecular genetics OMIM In affected members of 3 families with SJS1, Nicole et al. (2000) identified homozygous mutations in the HSPG2 gene (see, e.g., 142461.0001; 142461.0002).

Stum et al. (2006) identified 25 different HSPG2 mutations, including 22 novel mutations, ...