Disorder of bone development

MedGen UID:: 2309
•Concept ID:: C0005941
•: Disease or Syndrome

Synonyms:	Bone Disease, Developmental; Bone Diseases, Developmental; Bone Dysplasia; Bone Dysplasias; Developmental Bone Disease; Developmental Bone Diseases; Dysplasia, Bone; Dysplasias, Bone
SNOMED CT:	Disorder of bone development (371521007)

Definition

Any disorder of development of the bone. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDisorder of bone development

Pathological process
- Disease
  - Disorder by Site
    - Connective and Soft Tissue Disorder
      - Musculoskeletal system disorder
        Disorder of bone
        Disorder of bone development
        Congenital pectus excavatum
        Disappearing bone disease
        Dysostosis
        Acrofacial dysostosis
        Acrocraniofacial dysostosis
        Acrodysostosis with multiple hormone resistance
        Acrofacial dysostosis Rodriguez type
        Acrofacial dysostosis, Catania type
        Acrofacial dysostosis, Kennedy-Teebi type
        Acrofacial dysostosis, Palagonia type
        Acrofrontofacionasal dysostosis
        Acromelic frontonasal dysostosis
        Craniofrontonasal syndrome
        Curry-Hall syndrome
        Mandibulofacial dysostosis-microcephaly syndrome
        Miller syndrome
        Nager syndrome
        Patterson-Stevenson-Fontaine syndrome
        Richieri Costa-Pereira syndrome
        X-linked mandibulofacial dysostosis
        Cervical C2/C3 vertebral fusion
        Isolated Klippel-Feil syndrome
        Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
        Klippel-Feil syndrome 1, autosomal dominant
        Klippel-Feil syndrome 2, autosomal recessive
        Klippel-Feil syndrome 3, autosomal dominant
        Congenital pseudoarthrosis of the clavicle
        Craniofacial dysostosis
        Congenital craniofacial dysostosis
        Hallermann-Streiff syndrome
        Hypertelorism
        Mandibulofacial dysostosis
        Treacher Collins syndrome
        Focal dermal hypoplasia
        Orofaciodigital syndrome
        Mohr syndrome
        Oral-facial-digital syndrome with short stature and brachymesophalangy
        Orofacial-digital syndrome III
        Orofacial-digital syndrome IV
        Orofaciodigital syndrome I
        Orofaciodigital syndrome IX
        Orofaciodigital syndrome type 6
        Orofaciodigital syndrome type 12
        Orofaciodigital syndrome type 13
        Orofaciodigital syndrome type 14
        Orofaciodigital syndrome V
        Orofaciodigital syndrome VIII
        Orofaciodigital syndrome X
        Orofaciodigital syndrome XI
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Spondylocostal dysostosis
        Autosomal recessive spondylocostal dysostosis
        Spondylocostal dysostosis 5
        Synostosis
        Antley-Bixler Syndrome Phenotype
        Craniosynostosis syndrome
        Syndactyly
        Tarsal synostosis
        Gigantism
        Gorlin syndrome
        Hypoplasia of the odontoid process
        Lower limb asymmetry
        Hemiatrophy of lower limb
        Hemihypertrophy of lower limb
        Marfan syndrome
        Loeys-Dietz Syndrome Type 2
        Osteochondrodysplasia
        Achondroplasia
        Thanatophoric dysplasia
        Chondrodysplasia Blomstrand type
        Chondrodysplasia punctata
        Astley-Kendall dysplasia
        Child syndrome
        Greenberg dysplasia
        Keutel syndrome
        Rhizomelic chondrodysplasia punctata
        Cleidocranial dysostosis
        Desbuquois syndrome
        Diaphyseal dysplasia
        Ellis-van Creveld syndrome
        Enchondromatosis
        FGFR3 Chondrodysplasia
        Fibrous dysplasia
        Craniofacial Fibrous Dysplasia
        Fibrous dysplasia of jaw
        Monostotic fibrous dysplasia
        Polyostotic fibrous dysplasia of bone
        Hyperostosis interna frontalis
        Hypochondroplasia
        Increased bone mineral density
        Bone-in-a-bone appearance of carpal bones
        Clavicular sclerosis
        Cortical sclerosis
        Generalized osteosclerosis
        Increased bone density with cystic changes
        Increased skull ossification
        Ivory epiphyses of the metacarpals
        Metacarpal diaphyseal endosteal sclerosis
        Osteopetrosis
        Osteopoikilosis
        Patchy osteosclerosis
        Sclerosis of foot bone
        Sclerosis of hand bone
        Sclerosis of skull base
        Sclerotic scapulae
        Infantile cortical hyperostosis
        Kashin-Beck disease
        Langer-Giedion syndrome
        Mesomelic dysplasia
        Langer mesomelic dysplasia syndrome
        Osteochondroma
        Multiple Osteochondromas
        Solitary Osteochondroma
        Osteogenesis imperfecta
        Osteogenesis imperfecta type 5
        Osteogenesis imperfecta type 6
        Osteogenesis imperfecta type 7
        Osteogenesis imperfecta type 8
        Osteogenesis imperfecta type 9
        Osteogenesis imperfecta type 10
        Osteogenesis imperfecta type 11
        Osteogenesis imperfecta type 12
        Osteogenesis imperfecta type I
        Osteogenesis imperfecta type III
        Osteogenesis imperfecta with normal sclerae, dominant form
        Osteogenesis imperfecta, recessive perinatal lethal
        Osteogenesis imperfecta, type 19
        Proximal femoral epiphysiolysis
        Pyknodysostosis
        SAPHO syndrome
        Short rib-polydactyly syndrome
        Asphyxiating thoracic dystrophy 3
        Cranioectodermal dysplasia
        Jeune thoracic dystrophy
        Joubert syndrome with Jeune asphyxiating thoracic dystrophy
        Short rib-polydactyly syndrome, Majewski type
        Short-rib thoracic dysplasia 6 with or without polydactyly
        Short-rib thoracic dysplasia 7 with or without polydactyly
        Type IV short rib polydactyly syndrome
        Osteolytic defects of the phalanges of the hand
        Hajdu-Cheney syndrome
        Osteolytic defect of thumb phalanx
        Osteolytic defects of the phalanges of the 2nd finger
        Osteolytic defects of the phalanges of the 3rd finger
        Osteolytic defects of the phalanges of the 4th finger
        Osteolytic defects of the phalanges of the 5th finger
        Pectus carinatum
        Superior pectus carinatum
        Platybasia
        Proteus syndrome
        Severe short stature
        Cockayne syndrome
        Cockayne syndrome type 1
        Cockayne syndrome type 2
        Cockayne syndrome type 3
        COFS syndrome
        Congenital hypothyroidism
        Congenital hypothyroidism with ectopic thyroid
        Congenital iodine deficiency syndrome
        Deficiency of iodide peroxidase
        Dual Oxidase 2 Deficiency
        Genetic transient congenital hypothyroidism
        Hypothyroidism due to iodide transport defect
        Hypothyroidism due to TSH receptor mutations
        Hypothyroidism, congenital, nongoitrous, 2
        Iodotyrosine deiodination defect
        Isolated thyroid-stimulating hormone deficiency
        Pendred syndrome
        Thyroglobulin Deficiency
        Thyroid dyshormonogenesis
        Thyroid dyshormonogenesis 6
        Laron-type isolated somatotropin defect
        Mulibrey nanism syndrome
        Pituitary dwarfism
        Russell-Silver syndrome
        Silver-Russell syndrome 1
        Silver-russell syndrome 2
        Silver-Russell syndrome 3
        Silver-russell syndrome 4
        Silver-Russell syndrome 5
        Silver-Russell syndrome due to 11p15 microduplication
        Silver-Russell syndrome due to 7p11.2p13 microduplication
        Silver-Russell syndrome due to a point mutation
        Silver-Russell syndrome due to an imprinting defect of 11p15
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
        Weill-Marchesani syndrome
        Weill-Marchesani 4 syndrome, recessive
        Weill-Marchesani syndrome 1
        Weill-Marchesani syndrome 3
        Weill-Marchesani syndrome 2, dominant

Professional guidelines

PubMed

Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.

Sawin PD, Menezes AH
J Neurosurg 1997 Jun;86(6):950-60. doi: 10.3171/jns.1997.86.6.0950. PMID: 9171173

See all (1)

Recent clinical studies

Diagnosis

Fibrous dysplasia of the first cervical vertebra.

Arantes M, Vaz AR, Honavar M, Resende M, Pereira JR
Spine (Phila Pa 1976) 2008 Nov 15;33(24):E933-5. doi: 10.1097/BRS.0b013e318186b31a. PMID: 19011535

Endoscopic transnasal decompression for management of basilar invagination in osteogenesis imperfecta.

Hansen MA, da Cruz MJ, Owler BK
J Neurosurg Spine 2008 Oct;9(4):354-7. doi: 10.3171/SPI.2008.9.10.354. PMID: 18939921

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Philippe HJ, Rival JM
Ultrasound Obstet Gynecol 2003 Dec;22(6):648-51. doi: 10.1002/uog.916. PMID: 14689542

Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.

Sawin PD, Menezes AH
J Neurosurg 1997 Jun;86(6):950-60. doi: 10.3171/jns.1997.86.6.0950. PMID: 9171173

See all (4)