Chondrodysplasia, Blomstrand Type (BOCD)

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Disease Ontology 12 DOID:0060387 OMIM 56 215045 MeSH 43 C537914 NCIt 49 C131420 MESH via Orphanet 44 C537914 ICD10 via Orphanet 33 Q78.8

UMLS via Orphanet 72 C1859148 Orphanet 58 ORPHA50945 MedGen 41 C1859148 SNOMED-CT via HPO 68 123982003 128306009 18265008 193570009 21995002 237364002 246803005 247053007 249310005 249670005 249671009 249680009 249696007 249872000 258211005 276507005 276508000 282020008 285503005 32958008 367494004 49347007 49550006 58748004 708670007 7305005 74370006 80825009 86203003 95515009 more UMLS 71 C1859148

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 50945 Definition Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. Epidemiology To date, less than 10 cases have been described in the literature. Clinical description BLC is a congenital disorder characterized by a low birth weight, facial dysmorphism (widely spaced and protruding eyes (which typically show cataract ), depressed nasal bridge, short columella, long philtrum, macroglossia, protruding tongue, severe micrognathia ), short trunk, narrow thorax and severe rhizo-meso-acromelic shortness of the limbs. Other anomalies also observed include tooth and mammary gland development defects, hypoplastic lungs, aorta coarctation (see this term), and bowel malrotation. Two forms of BCL, have been described: type I which is the severe, classical form and type II which has less severe features (such as absence of short trunk or, severely shortened arms but moderately shortened legs). Etiology BLC is caused by inactivating homozygous or compound heterozygous mutations in PTH1R (3p22-p21.1) which encodes the parathyroid hormone (PTH)/parathyroid-hormone-related peptide (PTHrP) receptor (PTH1R). These mutations result in the decrease in binding or response to PTH and PTHrP. Diagnostic methods Diagnosis is based on the clinical and radiological characteristics which show generalized increase in bone density with advanced ossification, severe shortness of the long bones with wide metaphyses and club-shaped distal ends, long narrow thorax, calcified hyoid bone and laryngeal cartilage and underdeveloped viscerocranium. Histopathological examination shows an important acceleration of the endochondral ossification in tubular bones, narrow cartilages of the epiphyses and large epiphyseal ossification centers. Diagnosis is confirmed by the genetic screening of PTH1R . Differential diagnosis Differential diagnosis includes primary failure of tooth eruption (see this term) and other lethal short limbed dwarfisms. Antenatal diagnosis Prenatal diagnosis is achieved by sonographic examination showing polyhydramnios, hydrops fetalis (see this term) and a fetus with very short limbs, nuchale dema, macroglossia, a protuberant abdomen, internal anomalies and markedly advanced endochondral bone formation. Genetic counseling Transmission is autosomal recessive . Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child. Prognosis Both forms of BLC are lethal either prenatally or shortly after birth. Visit the Orphanet disease page for more resources.

MalaCards based summary : Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to endosteal hyperostosis, autosomal dominant and odontochondrodysplasia. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Affiliated tissues include bone, eye and lung, and related phenotypes are malar flattening and low-set ears

Disease Ontology : ¹² An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has material basis in autosomal recessive inheritance of mutation in the PTH1R gene.

OMIM : ⁵⁶ 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). (215045)

UniProtKB/Swiss-Prot : ⁷³ Chondrodysplasia Blomstrand type: Severe skeletal dysplasia.

Clinical features from OMIM:

215045

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability after Maraba virus infection	GR00252-A-1	9.74	AIRE GCM2 GNAS HHIP PRR16 TNFSF11
2	Decreased viability after Maraba virus infection	GR00252-A-2	9.74	AIRE GCM2 GNAS HHIP PRR16 TNFSF11
3	Decreased viability after Maraba virus infection	GR00252-A-3	9.74	GNAS

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