encyclopedia of medical concepts
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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
Substance
CAS Registry & name
Categories
Source
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.