Parastremmatic dwarfism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr: 2646
OMIM Id: 168400
ICD-10: Q87.1
UMLs: C1868616
MeSH: C537172
MedDRA:
Snomed: 254095002

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: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
TRPV4-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
2
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
5
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
6
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
7
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
8
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
9
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
10
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
11
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
14
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
15
 (HPO:0100559) Lower limb asymmetry Frequent [Orphanet] 30 / 7739
16
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
17
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
18
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
19
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
20
 (HPO:0001371) Flexion contracture 220 / 7739
21
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
22
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
23
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
24
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
25
 (HPO:0003510) Severe short stature 90 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) Coarse bone trabeculations with areas of irregular, dense stippling and streaking 1 / 7739
29
 (OMIM) Normocephaly 10 / 7739
30
 (OMIM) Lace-like border of the iliac crests 1 / 7739
31
 (OMIM) Legs twisted along the long axis 1 / 7739
32
 (OMIM) Severe genu valgum 1 / 7739
33
 (OMIM) Dwarfism identifiable during late infancy 1 / 7739
34
 (OMIM) Normal intelligence 81 / 7739
35
 (OMIM) Average adult height: 90 to 110 cm 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Langer et al. (1970) described 3 patients with a form of dwarfism in which deformities are recognized in the first 6 to 12 months of life. They named the disorder parastremmatic from the Greek term for twisted. Clinically ...
Molecular genetics OMIM In a 7-year-old girl with parastremmatic dwarfism, Nishimura et al. (2010) analyzed the candidate gene TRPV4 and identified heterozygosity for a missense mutation (R594H; 605427.0003) that had previously been found in patients with the Kozlowski type of spondylometaphyseal ...