Chondrodysplasia, Blomstrand type

General Information (adopted from Orphanet):

Synonyms, Signs: BOCD
BLC
Blomstrand lethal chondrodysplasia
Number of Symptoms 47
OrphanetNr: 50945
OMIM Id: 215045
ICD-10: Q78.8
UMLs: C1859148
MeSH: C537914
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 13 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neonatal osteosclerotic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000272) Malar flattening 277 / 7739
3
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
4
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Very frequent [Orphanet] 18 / 7739
5
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
6
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
7
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
10
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
11
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
12
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
13
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
14
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
15
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
16
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
17
 (HPO:0008754) Laryngeal calcification 2 / 7739
18
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
19
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
20
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
21
 (HPO:0000773) Short ribs 70 / 7739
22
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
23
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
24
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
25
 (HPO:0008108) Advanced tarsal ossification 4 / 7739
26
 (HPO:0005789) Generalized osteosclerosis 10 / 7739
27
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
28
 (HPO:0003015) Flared metaphysis 44 / 7739
29
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0003177) Squared iliac bones 7 / 7739
32
 (HPO:0100240) Synostosis of joints Frequent [Orphanet] 11 / 7739
33
 (HPO:0001789) Hydrops fetalis Frequent [Orphanet] 63 / 7739
34
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
35
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
38
 (OMIM) Generalized sclerosis 1 / 7739
39
 (OMIM) Severe midface hypoplasia 1 / 7739
40
 (OMIM) Advanced skeletal maturation 1 / 7739
41
 (OMIM) Square ilia 1 / 7739
42
 (OMIM) Anterior rib widening 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
45
 (HPO:0003826) Stillbirth 40 / 7739
46
 (OMIM) Die at birth or shortly after birth 1 / 7739
47
 (OMIM) Normal vertebrae 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).
Clinical Description OMIM Blomstrand et al. (1985) presented the clinical and radiologic features of a female Finnish neonate who died shortly after birth with a 'hitherto unknown' skeletal dysplasia. The most characteristic finding was advanced skeletal maturation. Autosomal recessive inheritance was ...
Molecular genetics OMIM In a stillborn fetus with Blomstrand chondrodysplasia reported by Loshkajian et al. (1997), Jobert et al. (1998) found an absence of functional parathyroid hormone receptors (PTHR1; 168468). Analysis of PTHR1 genomic DNA demonstrated compound heterozygosity for a point ...