Goldblatt syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GOLDBLATT SYNDROME
ODCD
Goldblatt chondrodysplasia
Chondrodysplasia - dentinogenesis imperfecta - joint laxity
odontochondrodysplasia
Number of Symptoms 58
OrphanetNr: 166272
OMIM Id: 184260
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
Autosomal dominant inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Malformative syndrome with dentinogenesis imperfecta
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
Spondylometaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000703) Dentinogenesis imperfecta 18 / 7739
2
 (HPO:0000343) Long philtrum 262 / 7739
3
 (HPO:0000275) Narrow face 76 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0010299) Abnormality of dentin Very frequent [Orphanet] 9 / 7739
6
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
7
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
8
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
9
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
10
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
11
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
14
 (HPO:0002970) Genu varum 60 / 7739
15
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
16
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
17
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
18
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
19
 (HPO:0004625) Biconvex vertebral bodies 1 / 7739
20
 (HPO:0004565) Severe platyspondyly 13 / 7739
21
 (HPO:0000768) Pectus carinatum 136 / 7739
22
 (HPO:0003016) Metaphyseal widening 41 / 7739
23
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
24
 (HPO:0000926) Platyspondyly 150 / 7739
25
 (HPO:0002816) Genu recurvatum 30 / 7739
26
 (HPO:0010049) Short metacarpal 99 / 7739
27
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
28
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
29
 (HPO:0002869) Flared iliac wings 20 / 7739
30
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
31
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
32
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
33
 (HPO:0010582) Irregular epiphyses 19 / 7739
34
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
35
 (HPO:0009803) Short phalanx of finger 79 / 7739
36
 (HPO:0000939) Osteoporosis 129 / 7739
37
 (HPO:0003021) Metaphyseal cupping 16 / 7739
38
 (HPO:0003026) Short long bone 51 / 7739
39
 (HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
40
 (HPO:0010585) Small epiphyses 16 / 7739
41
 (HPO:0003180) Flat acetabular roof 25 / 7739
42
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
43
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
44
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
45
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
46
 (HPO:0002098) Respiratory distress 75 / 7739
47
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
48
 (OMIM) 'Banana peel' configuration of distal radius 1 / 7739
49
 (OMIM) Broad, cupped metaphyses 1 / 7739
50
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
51
 (OMIM) Chondrocytes have large vacuoles of dilated rough endoplasmic reticulum on electron microscopy 1 / 7739
52
 (OMIM) Delayed tooth eruption, primary and secondary 1 / 7739
53
 (OMIM) Small sciatic notch 1 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (OMIM) Lacy iliac wings 2 / 7739
56
 (OMIM) Brachydactyly, mild 5 / 7739
57
 (OMIM) Abnormal electrophoretic mobility of type II collagen 1 / 7739
58
 (OMIM) Irregular, small epiphyses 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a 3.5-year-old boy of mixed Australian/Thai parentage, Goldblatt et al. (1991) described a form of spondylometaphyseal dysplasia associated with joint laxity and dentinogenesis imperfecta. The disorder appeared to be different from the spondyloepimetaphyseal dysplasia with joint laxity ...
Molecular genetics OMIM Unger et al. (2008) performed complete sequencing of several genes, including the COL2A1 gene, in one or more the patients they reported with Goldblatt syndrome and identified no pathogenic mutations.