Metaphyseal chondrodysplasia, Jansen type

General Information (adopted from Orphanet):

Synonyms, Signs: METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE
Number of Symptoms 59
OrphanetNr: 33067
OMIM Id: 156400
ICD-10: Q78.5
UMLs: C0265295
MeSH: C537564
MedDRA:
Snomed: 24629003

Prevalence, inheritance and age of onset:

Prevalence: 16 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

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:0003109) Hyperphosphaturia 18 / 7739
2
 (HPO:0002150) Hypercalciuria 45 / 7739
3
 (HPO:0000121) Nephrocalcinosis 57 / 7739
4
 (HPO:0000692) Misalignment of teeth 18 / 7739
5
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
6
 (HPO:0000452) Choanal stenosis 23 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
9
 (HPO:0004676) Prominent supraorbital arches in adult 1 / 7739
10
 (HPO:0000453) Choanal atresia 76 / 7739
11
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
12
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
13
 (HPO:0002737) Thick skull base 3 / 7739
14
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
17
 (HPO:0000248) Brachycephaly 222 / 7739
18
 (HPO:0000365) Hearing impairment 539 / 7739
19
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
20
 (HPO:0002515) Waddling gait 56 / 7739
21
 (HPO:0000829) Hypoparathyroidism Frequent [Orphanet] 22 / 7739
22
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
23
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
24
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
25
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
26
 (HPO:0006380) Knee flexion contracture 56 / 7739
27
 (HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
28
 (HPO:0002756) Pathologic fracture 30 / 7739
29
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
30
 (HPO:0003026) Short long bone 51 / 7739
31
 (HPO:0003021) Metaphyseal cupping 16 / 7739
32
 (HPO:0003273) Hip contracture 30 / 7739
33
 (HPO:0000773) Short ribs 70 / 7739
34
 (HPO:0000938) Osteopenia 138 / 7739
35
 (HPO:0011001) Increased bone mineral density Frequent [Orphanet] 78 / 7739
36
 (HPO:0006487) Bowing of the long bones 95 / 7739
37
 (HPO:0100759) Clubbing of fingers 40 / 7739
38
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
39
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
40
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
41
 (HPO:0003510) Severe short stature 90 / 7739
42
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
43
 (HPO:0003072) Hypercalcemia Frequent [Orphanet] 36 / 7739
44
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Frequent [Orphanet] 12 / 7739
45
 (HPO:0002148) Hypophosphatemia 43 / 7739
46
 (MedDRA:10058668) Clinodactyly 91 / 7739
47
 (OMIM) Mild frontonasal hyperplasia in adult 1 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (OMIM) Short, clubbed fingers 1 / 7739
50
 (OMIM) Increased urinary excretion of cAMP 1 / 7739
51
 (OMIM) Average adult height 125cm 1 / 7739
52
 (OMIM) Mandibular cyst 1 / 7739
53
 (OMIM) Severe short stature, postnatal onset 1 / 7739
54
 (OMIM) Bowing of long bones, especially lower limb 1 / 7739
55
 (OMIM) Elevated 1,25(OH)2 D3 1 / 7739
56
 (OMIM) Parathyroid hormone (PTH) absent to low 1 / 7739
57
 (OMIM) Parathyroid hormone-related peptide (PTHrP) absent to low 1 / 7739
58
 (OMIM) Short, mildly broad diaphyses 1 / 7739
59
 (OMIM) Markedly expanded cup-shaped metaphyses, infancy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
Clinical Description OMIM Stoeckenius (1966) described affected mother and child with this disorder, which was formerly known as metaphyseal dysostosis. The mother's condition may have been the result of new dominant mutation. Her father was 40 years old at her birth. ...
Molecular genetics OMIM Schipani et al. (1995) demonstrated an activating mutation of the PTH1R gene in a patient with Jansen metaphyseal chondrodysplasia. The patient was heterozygous for a his223-to-arg (H223R) substitution in the first intracellular loop of the PTH receptor (168468.0001). ...