Agent Commons Collaborative Research

Dysostosis

A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.

Identifiers
MONDO:0018234 Orphanet:364559
Part of
Bone development disease

Subtypes

All diseases Rare only
Disease Subtypes
Synostosis 132
Oromandibular-limb anomalies syndrome 27
Acrofacial dysostosis 17
Mandibulofacial dysostosis 14
Hemimelia 13
Frontonasal dysplasia 9
Spondylocostal dysostosis 9
Heart-hand syndrome 7
Non-syndromic amelia 7
Split hand-foot malformation 7
Adams-Oliver syndrome 6
Congenital pseudoarthrosis of the limbs 5
Rubinstein-Taybi syndrome 4
Oculoauriculovertebral spectrum with radial defects 3
Tibial aplasia-ectrodactyly syndrome 3
Trigonocephaly 3
Duane-radial ray syndrome 2
EEC syndrome 2
Acheiria 2
Adactyly of foot 2
Apodia 2
Congenital absence of both forearm and hand 2
Congenital absence of both lower leg and foot 2
Congenital absence of thigh and lower leg with foot present 2
Femoral agenesis/hypoplasia 2
Hyperphalangy 2
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 2
Patella aplasia/hypoplasia 2
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 2
Split foot 2
Split hand 2
Tetraamelia-multiple malformations syndrome 2
Amniotic band syndrome 1
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Oculomaxillofacial dysostosis 1
ADULT syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Cooks syndrome
Currarino triad
EEM syndrome
Fuhrmann syndrome
Gollop-Wolfgang complex
IVIC syndrome
Karsch-Neugebauer syndrome
Melhem-Fahl syndrome
Prata-Liberal-Goncalves syndrome
Absence deformity of leg-cataract syndrome
Absent radius-anogenital anomalies syndrome
Absent tibia-polydactyly-arachnoid cyst syndrome
Acromesomelic dysplasia 2B
Adactylia, unilateral
Aphalangy-syndactyly-microcephaly syndrome
Autosomal recessive amelia
Bipartite talus
Brachydactyly-arterial hypertension syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Congenital absence of upper arm and forearm with hand present
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital pseudoarthrosis of clavicle
Dysostosis multiplex, Ain-Naz type
External auditory canal atresia-vertical talus-hypertelorism syndrome
Femoral-facial syndrome
Femur-fibula-ulna complex
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
Fibular aplasia-ectrodactyly syndrome
Genitopatellar syndrome
Hand-foot-genital syndrome
Hereditary thrombocytosis with transverse limb defect
Humerus trochlea aplasia
Imperforate oropharynx-costo vetebral anomalies syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Ischio-vertebral syndrome
Lethal faciocardiomelic dysplasia
Limb transversal defect-cardiac anomaly syndrome
Mammary-digital-nail syndrome
Nail-patella syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Otoonychoperoneal syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Pelvis-shoulder dysplasia
Pelviscapular dysplasia
Phocomelia, Schinzel type
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Postaxial tetramelic oligodactyly
Preaxial digit brachydactyly-webbed fingers
Progressive non-infectious anterior vertebral fusion
Proximal femoral focal deficiency
Radial deficiency-tibial hypoplasia syndrome
Radio-renal syndrome
Rapadilino syndrome
Shoulder and thorax deformity-congenital heart disease syndrome
Splenogonadal fusion-limb defects-micrognathia syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Spondylocostal dysostosis-anal and genitourinary malformations syndrome
Syngnathia multiple anomalies
Tetramelic monodactyly
Thalidomide embryopathy
Thrombocytopenia-absent radius syndrome
Tibia, hypoplasia or aplasia of, with polydactyly
Ulna hypoplasia-intellectual disability syndrome
Ulnar hypoplasia-split foot syndrome

Rare disease

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