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Bone Diseases, Developmental

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Definition:      
Examples Acro-Osteolysis; Basal Cell Nevus Syndrome; Dwarfism; Dysostoses; Funnel Chest; Gigantism; Leg Length Inequality; Marfan Syndrome; Osteochondrodysplasias; Osteolysis, Essential; Platybasia; Proteus Syndrome; Weill-Marchesani Syndrome 		Other names Bone Dysplasias; Dysplasias, Bone; Dysplasia, Bone; Developmental Bone Diseases; Bone Dysplasia; Bone Disease, Developmental; Developmental Bone Disease
 
SubstanceCAS Registry & nameCategoriesSource
Kyphomelic dysplasia  0   *Abnormalities, Multiple *Bone Diseases, Developmental.
Fryns Hofkens Fabry syndrome  0   *Bone Diseases, Developmental *Upper Extremity Deformities, Congenital.
Dysplasia epiphysealis hemimelica  0   *Bone Diseases, Developmental Femur/abnormalities Tibia/abnormalities.
CATSHL syndrome  0   *Hearing Loss *Bone Diseases, Developmental *Hand Deformities, Congenital.
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia  0   *Bone Diseases, Developmental *Fibrous Dysplasia of Bone *Hand Deformities, Congenital *Muscular Diseases.
Larsen syndrome, recessive type  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Dislocations/congenital *Musculoskeletal Abnormalities.
Macroepiphyseal dysplasia, McAlister Coe type  0   *Bone Diseases, Developmental *Osteoporosis *Skin Diseases.
Bazopoulou Kyrkanidou syndrome  0   *Gingival Hemorrhage *Bone Diseases, Developmental *Craniofacial Dysostosis Cervical Vertebrae/abnormalities. Genet Couns 5(3):257-67
Battaglia Neri syndrome  0   *Bone Diseases, Developmental *Epilepsy *Intellectual Disability *Microcephaly Face/abnormalities.
Gurrieri Sammito Bellussi syndrome  0   *Bone Diseases, Developmental *Epilepsy *Intellectual Disability.
Kozlowski Warren Fisher syndrome  0   *Bone Diseases, Developmental *Thanatophoric Dysplasia Skull/abnormalities.
Rhizomelic syndrome  0   *Bone Diseases, Developmental Femur/abnormalities Humerus/abnormalities.
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa  0   *Bone Diseases, Developmental *Growth Disorders *Retinitis Pigmentosa *Scoliosis.
Rhizomelic dysplasia Patterson Lowry type  0   *Bone Diseases, Developmental *Hand Deformities, Congenital Femur/abnormalities Humerus/abnormalities Pelvis/abnormalities Spine/abnormalities.
Schwartz-Lelek syndrome  0   *Bone Diseases, Developmental *Hypertelorism *Hyperostosis *Craniofacial Abnormalities.
Kozlowski Rafinski Klicharska syndrome  0   *Bone Diseases, Developmental *Cataract *Growth Disorders *Intellectual Disability *Psychomotor Disorders *Facies.
Stoll Levy Francfort syndrome  0   *Bone Diseases, Developmental *Hearing Loss, Conductive Ear, External/abnormalities Face/abnormalities.
Gracile bone dysplasia  0   *Bone Diseases, Developmental *Craniofacial Abnormalities.
Fountain syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Deafness *Intellectual Disability *Craniofacial Abnormalities.
Lenz Majewski hyperostotic dwarfism  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Intellectual Disability.
Brachymesomelia renal syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Corneal Dystrophies, Hereditary *Craniofacial Abnormalities *Kidney Diseases, Cystic/congenital.
Brachioskeletogenital syndrome  0   *Bone Diseases, Developmental Branchial Region/abnormalities Genitalia/abnormalities.
Weismann Netter syndrome  0   *Bone Diseases, Developmental *Genu Varum.
KBG syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Intellectual Disability *Tooth Abnormalities *Facies.
Ulna hypoplasia with mental retardation  0   *Bone Diseases, Developmental *Clubfoot *Intellectual Disability *Nails, Malformed Ulna/abnormalities.
Wiedemann Oldigs Oppermann syndrome  0   *Bone Diseases, Developmental *Hirsutism *Intellectual Disability *Metabolism, Inborn Errors.
Craniometaphyseal dysplasia dominant type  0   *Bone Diseases, Developmental *Facial Paralysis *Osteoporosis Skull/abnormalities.
Vertebral body fusion overgrowth  0   *Bone Diseases, Developmental *Growth Disorders *Craniofacial Abnormalities.
Angel shaped phalangoepiphyseal dysplasia  0   *Bone Diseases, Developmental Epiphyses.
Pointer syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Limb Deformities, Congenital *Craniofacial Abnormalities Eating Disorders.
Patterson pseudoleprechaunism syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Hyperpigmentation.
Blount disease  0   *Bone Diseases, Developmental *Osteochondrosis/congenital.
Diaphyseal medullary stenosis with malignant fibrous histiocytoma  0   *Bone Diseases, Developmental *Neoplastic Syndromes, Hereditary *Histiocytoma, Benign Fibrous.
Osteosclerosis with ichthyosis and premature ovarian failure  0   *Bone Diseases, Developmental *Sclerosis *Ichthyosis Vulgaris *Primary Ovarian Insufficiency.
Marshall-Smith syndrome  0   *Abnormalities, Multiple *Bone Diseases, Developmental *Craniofacial Abnormalities *Septo-Optic Dysplasia.
Deafness conductive ptosis skeletal anomalies  0   *Blepharoptosis *Bone Diseases, Developmental *Hearing Loss, Conductive.
Mononen Karnes Senac syndrome  0   *Bone Diseases, Developmental/congenital *Foot Deformities, Congenital *Hand Deformities, Congenital. Am J Med Genet. 1992 Mar 1;42(5):706-13
Spranger Schinzel Myers syndrome  0   *Arthrogryposis *Bone Diseases, Developmental Brain/abnormalities.
Acromicric dysplasia  0   *Bone Diseases, Developmental *Limb Deformities, Congenital.
Acromesomelic dysplasia, Maroteaux type  0   *Bone Diseases, Developmental.
Bellini Chiumello Rimoldi syndrome  0   *Bone Diseases, Developmental *Growth Disorders *Intellectual Disability Epiphyses/abnormalities.
Hall Riggs mental retardation syndrome  0   *Bone Diseases, Developmental *Intellectual Disability *Craniofacial Abnormalities.
Absence of Tibia  0   *Bone Diseases, Developmental Ectromelia Tibia/abnormalities.
Kantaputra Gorlin syndrome  0   *Bone Diseases, Developmental *Foot Deformities Fibula/abnormalities Radius/abnormalities Ulna/abnormalities.
Ischiopatellar dysplasia  0   *Bone Diseases, Developmental Hip/abnormalities Ischium/abnormalities Patella/abnormalities.
Radius absent anogenital anomalies  0   *Bone Diseases, Developmental *Hydrocephalus *Hypospadias *Genetic Diseases, X-Linked Fingers/abnormalities Radius/abnormalities.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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