Kniest dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 74
OrphanetNr: 485
OMIM Id: 156550
ICD-10: Q77.7
UMLs: C0265279
MeSH: C537207
MedDRA:
Snomed: 53974002

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Pierre Robin syndrome associated with collagen disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck 345 / 7739
2
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
3
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
6
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
7
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0000162) Glossoptosis Occasional [Orphanet] 26 / 7739
10
 (HPO:0000272) Malar flattening 277 / 7739
11
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
12
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
13
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
14
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
15
 (HPO:0004327) Abnormality of the vitreous humor Very frequent [Orphanet] 14 / 7739
16
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
17
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
18
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
19
 (HPO:0000403) Recurrent otitis media 61 / 7739
20
 (HPO:0000405) Conductive hearing impairment 164 / 7739
21
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
22
 (HPO:0001270) Motor delay 322 / 7739
23
 (HPO:0001288) Gait disturbance 318 / 7739
24
 (HPO:0000947) Dumbbell-shaped long bone 5 / 7739
25
 (HPO:0100625) Enlarged thorax Very frequent [Orphanet] 15 / 7739
26
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
27
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
28
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
29
 (HPO:0001376) Limitation of joint mobility 27 / 7739
30
 (HPO:0003015) Flared metaphysis 44 / 7739
31
 (HPO:0002812) Coxa vara 58 / 7739
32
 (HPO:0003273) Hip contracture 30 / 7739
33
 (HPO:0006172) Flattened, squared-off epiphyses of tubular bones 1 / 7739
34
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
35
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
36
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
37
 (HPO:0004619) Lumbar kyphoscoliosis 1 / 7739
38
 (HPO:0002827) Hip dislocation 94 / 7739
39
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
40
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
41
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
42
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
43
 (HPO:0003037) Enlarged joints 4 / 7739
44
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
45
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
46
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
47
 (HPO:0200003) Splayed epiphyses 1 / 7739
48
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
49
 (HPO:0008271) Abnormal cartilage collagen 1 / 7739
50
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
51
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
52
 (HPO:0002829) Arthralgia 79 / 7739
53
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
54
 (HPO:0005059) Arthralgia/arthritis 141 / 7739
55
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
56
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
57
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
58
 (HPO:0000023) Inguinal hernia 181 / 7739
59
 (HPO:0001537) Umbilical hernia 206 / 7739
60
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
61
 (HPO:0003498) Disproportionate short stature 28 / 7739
62
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
63
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
64
 (HPO:0002098) Respiratory distress 75 / 7739
65
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
66
 (OMIM) Occipitoatlantal instability 1 / 7739
67
 (OMIM) Final adult height 106-145cm 1 / 7739
68
 (OMIM) Keratan sulfaturia in some patients 1 / 7739
69
 (OMIM) Splayed epiphyses and metaphyses 1 / 7739
70
 (HPO:0011800) Midface retrusion 221 / 7739
71
 (OMIM) Megaepiphyses 2 / 7739
72
 (OMIM) Narrowing of joint spaces 1 / 7739
73
 (OMIM) Short, dumbbell appearance of long bones 1 / 7739
74
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Siggers et al. (1974) reported 8 patients with Kniest dysplasia. Two were identical twins; the other cases were sporadic. All of the patients had short stature, round face with central depression, prominent eyes, enlargement and stiffness of joints, ...
Molecular genetics OMIM Mortier et al. (1995) described a mutation in type II collagen resulting in Kniest dysplasia (120140.0022). Winterpacht et al. (1993) and Spranger et al. (1994) described COL2A1 mutations in patients with Kniest dysplasia. The patient described by Winterpacht ...