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Chondrodysplasia Blomstrand type(BOCD)

MedGen UID:
395189
Concept ID:
C1859148
Disease or Syndrome
Synonyms: Blomstrand lethal osteochondrodysplasia; Blomstrand's lethal chondrodysplasia; BOCD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): PTH1R (3p21.31)
 
Monarch Initiative: MONDO:0008970
OMIM®: 215045
Orphanet: ORPHA50945

Definition

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). [from OMIM]

Clinical features

From HPO
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Advanced ossification of carpal bones
MedGen UID:
341422
Concept ID:
C1849292
Finding
Ossification of carpal bones at an abnormally early age.
Preductal coarctation of the aorta
MedGen UID:
539555
Concept ID:
C0265878
Congenital Abnormality
Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Squared iliac bones
MedGen UID:
324963
Concept ID:
C1838186
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Generalized osteosclerosis
MedGen UID:
375162
Concept ID:
C1843331
Finding
An abnormal increase of bone mineral density with generalized involvement of the skeleton.
Advanced tarsal ossification
MedGen UID:
376557
Concept ID:
C1849293
Finding
Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Laryngeal calcification
MedGen UID:
347811
Concept ID:
C1859158
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the laryngeal tissues.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Fetal ascites
MedGen UID:
226930
Concept ID:
C1285291
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity during the fetal period.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChondrodysplasia Blomstrand type
Follow this link to review classifications for Chondrodysplasia Blomstrand type in Orphanet.

Professional guidelines

PubMed

Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914

Recent clinical studies

Etiology

Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914

Diagnosis

Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Beena S, Murlidhar L, Seshadri S, Jagadeesh S, Suresh I
J Matern Fetal Neonatal Med 2017 May;30(9):1041-1044. Epub 2016 Aug 10 doi: 10.1080/14767058.2016.1199675. PMID: 27353973
Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M
PLoS One 2013;8(9):e74601. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0074601. PMID: 24058597Free PMC Article

Prognosis

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M
PLoS One 2013;8(9):e74601. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0074601. PMID: 24058597Free PMC Article

Clinical prediction guides

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M
PLoS One 2013;8(9):e74601. Epub 2013 Sep 18 doi: 10.1371/journal.pone.0074601. PMID: 24058597Free PMC Article

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