Pyle disease

General Information (adopted from Orphanet):

Synonyms, Signs: METAPHYSEAL DYSPLASIA
Metaphyseal dysplasia, Pyle type
Number of Symptoms 30
OrphanetNr: 3005
OMIM Id: 265900
ICD-10: Q78.5
UMLs:
MeSH: C536252
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
2
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
3
 (HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
4
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
5
 (HPO:0002684) Thickened calvaria 32 / 7739
6
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
7
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
8
 (HPO:0001377) Limited elbow extension 38 / 7739
9
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
10
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
11
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
12
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
13
 (HPO:0000765) Abnormality of the thorax 64 / 7739
14
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
15
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
16
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
17
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
18
 (HPO:0002829) Arthralgia 79 / 7739
19
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
20
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
21
 (HPO:0000926) Platyspondyly 150 / 7739
22
 (HPO:0001324) Muscle weakness 859 / 7739
23
 (OMIM) Marked Erlenmeyer-flask deformity of proximal tibia and distal femur 1 / 7739
24
 (MedDRA:10017076) Fracture 18 / 7739
25
 (OMIM) Thickened medial ends of clavicle 1 / 7739
26
 (MedDRA:10017322) Fractures 18 / 7739
27
 (OMIM) Thickened sternal ends of ribs 1 / 7739
28
 (OMIM) Mild supraorbital hyperplasia 1 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Marked undertubulation of long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Despite bizarre roentgenographic changes, there are few clinical findings other than genu valgum. The skull is only mildly affected, thus distinguishing this disorder from the craniometaphyseal dysplasias (see 123000, 218400). The femurs show an Erlenmeyer-flask deformity. The humerus ...