Metaphyseal chondrodysplasia, Kaitila type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr: 166038
OMIM Id: 250230
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000444) Convex nasal ridge 87 / 7739
2
 (HPO:0000189) Narrow palate 45 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0006094) Finger joint hypermobility 2 / 7739
5
 (HPO:0003037) Enlarged joints 4 / 7739
6
 (HPO:0010743) Short metatarsal 56 / 7739
7
 (HPO:0000946) Hypoplastic ilia 21 / 7739
8
 (HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
9
 (HPO:0009803) Short phalanx of finger 79 / 7739
10
 (HPO:0002983) Micromelia 130 / 7739
11
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
12
 (HPO:0009826) Limb undergrowth 8 / 7739
13
 (HPO:0001831) Short toe 52 / 7739
14
 (HPO:0001377) Limited elbow extension 38 / 7739
15
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
16
 (HPO:0000774) Narrow chest 167 / 7739
17
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
18
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
19
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
20
 (HPO:0008828) Delayed proximal femoral epiphyseal ossification 2 / 7739
21
 (HPO:0003016) Metaphyseal widening 41 / 7739
22
 (HPO:0003411) Proximal femoral metaphyseal irregularity 7 / 7739
23
 (HPO:0010049) Short metacarpal 99 / 7739
24
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
25
 (HPO:0001821) Broad nail 5 / 7739
26
 (HPO:0001799) Short nail 12 / 7739
27
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Narrow, beaked nose 2 / 7739
30
 (OMIM) Short, broad tibiae and fibulae 1 / 7739
31
 (OMIM) Normal intelligence 81 / 7739
32
 (OMIM) Irregular, widened metaphyses 2 / 7739
33
 (OMIM) Short limbs 17 / 7739
34
 (OMIM) Progressive scoliosis 6 / 7739
35
 (OMIM) Short, broad nails 2 / 7739
36
 (OMIM) Shallow, narrow chest 1 / 7739
37
 (OMIM) Tracheobronchial malacia 1 / 7739
38
 (OMIM) Wrinkled skin over fingers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaitila et al. (1982) described a brother and sister with a previously unrecognized form of disproportionate short stature. The brother had tracheobronchial malacia and progressive scoliosis. The trachea and bronchi were reinforced with surrounding acrylate mesh before surgical ...