Dysostosis

Part of

Sub-types of Dysostosis

• Synostosis 1 trial · 40 incl. sub-types
  11 sub-types

  • Craniosynostosis 17 trials · 39 incl. sub-types Sub-types →
  • Congenital radioulnar synostosis 1 trial Sub-types →
  • Banki syndrome 0 trials
  • Calcaneonavicular coalition 0 trials
  • Coronal synostosis, syndactyly and jejunal atresia 0 trials
  • Humero-radio-ulnar synostosis 0 trials Sub-types →
  • Humero-ulnar synostosis 0 trials Sub-types →
  • Humeroradial synostosis 0 trials Sub-types →
  • Multiple synostoses syndrome 0 trials Sub-types →
  • Non-syndromic pansynostosis 0 trials
  • Tibio-fibular synostosis 0 trials
• Amniotic band syndrome 8 trials · 9 incl. sub-types
  1 sub-type

  • Terminal transverse defects of arm 1 trial
• Spondylocostal dysostosis 5 trials · 8 incl. sub-types
  4 sub-types

  • Spondylocostal dysostosis 5 3 trials
  • Autosomal dominant spondylocostal dysostosis 0 trials
  • Autosomal recessive spondylocostal dysostosis 0 trials Sub-types →
  • Spondylocostal dysostosis 7, autosomal recessive 0 trials
• Non-syndromic amelia 1 trial · 5 incl. sub-types
  3 sub-types

  • Amelia of lower limb 2 trials Sub-types →
  • Amelia of upper limb 2 trials Sub-types →
  • Tetra-amelia 0 trials
• Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types
  1 sub-type

  • Craniofacial microsomia 5 trials Sub-types →
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Nail-patella syndrome 2 trials
• Congenital absence of both forearm and hand 1 trial · 2 incl. sub-types
  2 sub-types

  • Congenital absence of both forearm and hand, unilateral 1 trial
  • Congenital absence of both forearm and hand, bilateral 0 trials
• Congenital pseudoarthrosis of the limbs 1 trial · 2 incl. sub-types
  5 sub-types

  • Congenital pseudoarthrosis of the tibia 1 trial
  • Congenital pseudoarthrosis of the femur 0 trials
  • Congenital pseudoarthrosis of the fibula 0 trials
  • Congenital pseudoarthrosis of the radius 0 trials
  • Congenital pseudoarthrosis of the ulna 0 trials
• Acheiria 0 trials · 2 incl. sub-types
  2 sub-types

  • Acheiria, unilateral 2 trials
  • Acheiria, bilateral 0 trials
• Hemimelia 0 trials · 2 incl. sub-types
  5 sub-types

  • Radial hemimelia 0 trials · 1 incl. sub-types Sub-types →
  • Ulnar hemimelia 1 trial Sub-types →
  • Complete hemimelia 0 trials
  • Fibular hemimelia 0 trials Sub-types →
  • Tibial hemimelia 0 trials Sub-types →
• Currarino triad 1 trial
• Duane-radial ray syndrome 1 trial
  2 sub-types

  • Okihiro syndrome due to 20q13 microdeletion 0 trials
  • Okihiro syndrome due to a point mutation 0 trials
• EEC syndrome 1 trial
  2 sub-types

  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
• Femoral agenesis/hypoplasia 1 trial
  2 sub-types

  • Femoral agenesis/hypoplasia, bilateral 0 trials
  • Femoral agenesis/hypoplasia, unilateral 0 trials
• Femur-fibula-ulna complex 1 trial
• Frontonasal dysplasia 1 trial
  9 sub-types

  • Pai syndrome 0 trials
  • Acromelic frontonasal dysostosis 0 trials
  • Craniofrontonasal dysplasia-Poland anomaly syndrome 0 trials
  • Frontofacionasal dysplasia 0 trials
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 0 trials
  • Frontonasal dysplasia with alopecia and genital anomaly 0 trials
  • Frontorhiny 0 trials
  • Oculoauriculofrontonasal syndrome 0 trials
  • Six2-related frontonasal dysplasia 0 trials
• Thalidomide embryopathy 1 trial
• Thrombocytopenia-absent radius syndrome 1 trial
• Trigonocephaly 1 trial
  1 sub-type

  • Isolated trigonocephaly 0 trials Sub-types →
• Acrofacial dysostosis 0 trials · 1 incl. sub-types
  14 sub-types

  • Postaxial acrofacial dysostosis 1 trial
  • Patterson-Stevenson-Fontaine syndrome 0 trials
  • SF3B4-related acrofacial dysostosis 0 trials Sub-types →
  • Acrocraniofacial dysostosis 0 trials
  • Acrofacial dysostosis Cincinnati type 0 trials
  • Acrofacial dysostosis Preis type 0 trials
  • Acrofacial dysostosis Rodriguez type 0 trials
  • Acrofacial dysostosis, Catania type 0 trials
  • Acrofacial dysostosis, Kennedy-Teebi type 0 trials
  • Acrofacial dysostosis, Palagonia type 0 trials
  • Acrofacial dysostosis, Weyers type 0 trials
  • Acrofrontofacionasal dysostosis 0 trials Sub-types →
  • Acromelic frontonasal dysostosis 0 trials
  • Mandibulofacial dysostosis-microcephaly syndrome 0 trials
• Split hand-foot malformation 0 trials · 1 incl. sub-types
  6 sub-types

  • Split hand-foot malformation 3 1 trial
  • Split hand-foot malformation 1 0 trials
  • Split hand-foot malformation 2 0 trials
  • Split hand-foot malformation 4 0 trials
  • Split hand-foot malformation 5 0 trials
  • Split hand-foot malformation 6 0 trials
• ADULT syndrome 0 trials
• Adams-Oliver syndrome 0 trials
  6 sub-types

  • Adams-Oliver syndrome 1 0 trials
  • Adams-Oliver syndrome 2 0 trials
  • Adams-Oliver syndrome 3 0 trials
  • Adams-Oliver syndrome 4 0 trials
  • Adams-Oliver syndrome 5 0 trials
  • Adams-Oliver syndrome 6 0 trials
• Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0 trials
• Cooks syndrome 0 trials
• EEM syndrome 0 trials
• Fuhrmann syndrome 0 trials
• Gollop-Wolfgang complex 0 trials
• IVIC syndrome 0 trials
• Karsch-Neugebauer syndrome 0 trials
• Melhem-Fahl syndrome 0 trials
• Prata-Liberal-Goncalves syndrome 0 trials
• Absence deformity of leg-cataract syndrome 0 trials
• Absent radius-anogenital anomalies syndrome 0 trials
• Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
• Acromesomelic dysplasia 2B 0 trials
• Adactylia, unilateral 0 trials
• Adactyly of foot 0 trials
  2 sub-types

  • Adactyly of foot, bilateral 0 trials
  • Adactyly of foot, unilateral 0 trials
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials
  1 sub-type

  • Rosselli-Gulienetti syndrome 0 trials
• Aphalangy-syndactyly-microcephaly syndrome 0 trials
• Apodia 0 trials
  2 sub-types

  • Apodia, bilateral 0 trials
  • Apodia, unilateral 0 trials
• Autosomal recessive amelia 0 trials
• Bipartite talus 0 trials
• Brachydactyly-arterial hypertension syndrome 0 trials
• Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
• Camptodactyly syndrome, Guadalajara type 2 0 trials
• Camptodactyly syndrome, Guadalajara type 3 0 trials
• Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
• Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
• Congenital absence of both lower leg and foot 0 trials
  2 sub-types

  • Congenital absence of both lower leg and foot, bilateral 0 trials
  • Congenital absence of both lower leg and foot, unilateral 0 trials
• Congenital absence of thigh and lower leg with foot present 0 trials
  2 sub-types

  • Congenital absence of thigh and lower leg with foot present, bilateral 0 trials
  • Congenital absence of thigh and lower leg with foot present, unilateral 0 trials
• Congenital absence of upper arm and forearm with hand present 0 trials
• Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
• Congenital pseudoarthrosis of clavicle 0 trials
• Dysostosis multiplex, Ain-Naz type 0 trials
• External auditory canal atresia-vertical talus-hypertelorism syndrome 0 trials
• Femoral-facial syndrome 0 trials
• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0 trials
• Fibular aplasia-ectrodactyly syndrome 0 trials
• Genitopatellar syndrome 0 trials
• Hand-foot-genital syndrome 0 trials
• Heart-hand syndrome 0 trials
  6 sub-types

  • Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Brachydactyly-long thumb syndrome 0 trials
  • Heart-hand syndrome type 2 0 trials
  • Heart-hand syndrome, Slovenian type 0 trials
  • Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
• Hereditary thrombocytosis with transverse limb defect 0 trials
• Humerus trochlea aplasia 0 trials
• Hyperphalangy 0 trials
  2 sub-types

  • Hyperphalangy, bilateral 0 trials
  • Hyperphalangy, unilateral 0 trials
• Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
• Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
• Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
• Ischio-vertebral syndrome 0 trials
• Lethal faciocardiomelic dysplasia 0 trials
• Limb transversal defect-cardiac anomaly syndrome 0 trials
• Mammary-digital-nail syndrome 0 trials
• Mandibulofacial dysostosis 0 trials
  6 sub-types

  • Treacher-Collins syndrome 0 trials Sub-types →
  • X-linked mandibulofacial dysostosis 0 trials
  • Acrodysostosis 0 trials Sub-types →
  • Mandibulofacial dysostosis with alopecia 0 trials
  • Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 0 trials
  • Otofaciocervical syndrome 0 trials Sub-types →
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials
  2 sub-types

  • Au-Kline syndrome 0 trials
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 0 trials
• Oculomaxillofacial dysostosis 0 trials
  1 sub-type

  • Tessier number 4 facial cleft 0 trials
• Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
• Oromandibular-limb anomalies syndrome 0 trials
  2 sub-types

  • Orofaciodigital syndrome 0 trials Sub-types →
  • Oromandibular-limb hypogenesis syndrome 0 trials Sub-types →
• Otoonychoperoneal syndrome 0 trials
• Patella aplasia/hypoplasia 0 trials
  2 sub-types

  • Patella aplasia/hypoplasia, bilateral 0 trials
  • Patella aplasia/hypoplasia, unilateral 0 trials
• Pelvic dysplasia-arthrogryposis of lower limbs syndrome 0 trials
• Pelvis-shoulder dysplasia 0 trials
• Pelviscapular dysplasia 0 trials
• Phocomelia, Schinzel type 0 trials
• Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0 trials
• Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
• Postaxial tetramelic oligodactyly 0 trials
• Preaxial digit brachydactyly-webbed fingers 0 trials
• Progressive non-infectious anterior vertebral fusion 0 trials
• Proximal femoral focal deficiency 0 trials
• Radial deficiency-tibial hypoplasia syndrome 0 trials
• Radio-renal syndrome 0 trials
• Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 0 trials
  2 sub-types

  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 trials
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 trials
• Rapadilino syndrome 0 trials
• Shoulder and thorax deformity-congenital heart disease syndrome 0 trials
• Splenogonadal fusion-limb defects-micrognathia syndrome 0 trials
• Split foot 0 trials
  2 sub-types

  • Split foot, bilateral 0 trials
  • Split foot, unilateral 0 trials
• Split hand 0 trials
  2 sub-types

  • Split hand, bilateral 0 trials
  • Split hand, unilateral 0 trials
• Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
• Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
• Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
• Syngnathia multiple anomalies 0 trials
• Tetraamelia-multiple malformations syndrome 0 trials
  2 sub-types

  • Tetraamelia syndrome 1 0 trials
  • Tetraamelia syndrome 2 0 trials
• Tetramelic monodactyly 0 trials
• Tibia, hypoplasia or aplasia of, with polydactyly 0 trials
• Tibial aplasia-ectrodactyly syndrome 0 trials
  3 sub-types

  • Chromosome 17P13.3, telomeric, duplication syndrome 0 trials
  • Split-hand/foot malformation with long bone deficiency 1 0 trials
  • Split-hand/foot malformation with long bone deficiency 2 0 trials
• Ulna hypoplasia-intellectual disability syndrome 0 trials
• Ulnar hypoplasia-split foot syndrome 0 trials