Skeletal dysplasia

Part of

Sub-types of Skeletal dysplasia

• Osteochondrodysplasia 12 trials · 380 incl. sub-types
  50 sub-types

  • Osteogenesis imperfecta 35 trials · 329 incl. sub-types Sub-types →
  • Achondroplasia 26 trials
  • Hypochondroplasia 9 trials
  • Spondyloepiphyseal dysplasia 0 trials · 8 incl. sub-types Sub-types →
  • Spondyloepimetaphyseal dysplasia 0 trials · 4 incl. sub-types Sub-types →
  • Blount disease 2 trials Sub-types →
  • Diastrophic dysplasia 2 trials
  • Mesomelic dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • Neonatal osteosclerotic dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • Cleidocranial dysplasia 1 1 trial
  • Metaphyseal chondrodysplasia, Jansen type 1 trial
  • Microcephalic osteodysplastic primordial dwarfism type I 1 trial
  • Microcephalic osteodysplastic primordial dwarfism type II 1 trial
  • Midface dysplasia 1 trial
  • Pseudoachondroplasia 1 trial
  • Akaba Hayasaka syndrome 0 trials
  • Boomerang dysplasia 0 trials
  • Desbuquois dysplasia 0 trials Sub-types →
  • Fairbank disease 0 trials
  • Kashin-Beck disease 0 trials
  • Kniest dysplasia 0 trials
  • Leri-Weill dyschondrosteosis 0 trials Sub-types →
  • Pyle disease 0 trials Sub-types →
  • Schmid metaphyseal chondrodysplasia 0 trials
  • Acheiropody 0 trials
  • Achondrogenesis 0 trials Sub-types →
  • Acrocapitofemoral dysplasia 0 trials
  • Acromesomelic dysplasia 0 trials Sub-types →
  • Arterial tortuosity-bone fragility syndrome 0 trials
  • Atelosteogenesis 0 trials Sub-types →
  • Bone dysplasia, lethal Holmgren type 0 trials
  • Brachyolmia 0 trials Sub-types →
  • Campomelic dysplasia 0 trials
  • Cleidocranial dysplasia 2 0 trials
  • Cleidocranial dysplasia, recessive form 0 trials
  • Fibrochondrogenesis 0 trials Sub-types →
  • Hypertrichotic osteochondrodysplasia Cantu type 0 trials
  • Lethal Kniest-like dysplasia 0 trials
  • Lethal chondrodysplasia, Seller type 0 trials
  • Linkeropathy 0 trials Sub-types →
  • Mesomelia-synostoses syndrome 0 trials
  • Metaphyseal chondrodysplasia, Kaitila type 0 trials
  • Metaphyseal chondrodysplasia, Spahr type 0 trials
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 trials
  • Multiple epiphyseal dysplasia 0 trials Sub-types →
  • Pycnodysostosis 0 trials
  • Pyknoachondrogenesis 0 trials
  • Schneckenbecken dysplasia 0 trials
  • Thanatophoric dysplasia 0 trials Sub-types →
  • Ulna metaphyseal dysplasia syndrome 0 trials
• Lysosomal storage disease with skeletal involvement 0 trials · 63 incl. sub-types
  25 sub-types

  • Mucopolysaccharidosis type 2 24 trials Sub-types →
  • Mucopolysaccharidosis type 4A 8 trials
  • Mucopolysaccharidosis type 6 8 trials Sub-types →
  • Mucopolysaccharidosis type 7 8 trials
  • Mucopolysaccharidosis type 3A 7 trials
  • Hurler syndrome 6 trials
  • Mucopolysaccharidosis type 3B 6 trials
  • Alpha-mannosidosis 5 trials Sub-types →
  • Aspartylglucosaminuria 4 trials
  • Mucosulfatidosis 4 trials
  • GM1 gangliosidosis type 1 3 trials
  • Hurler-Scheie syndrome 2 trials
  • Fucosidosis 2 trials
  • Galactosialidosis 2 trials
  • Mucopolysaccharidosis type 3C 2 trials
  • Scheie syndrome 1 trial
  • GNPTG-mucolipidosis 0 trials
  • Beta-mannosidosis 0 trials
  • Free sialic acid storage disease, infantile form 0 trials
  • Mucolipidosis type II 0 trials
  • Mucolipidosis type III, alpha/beta 0 trials
  • Mucopolysaccharidosis type 3D 0 trials
  • Mucopolysaccharidosis type 4B 0 trials
  • Mucopolysaccharidosis-plus syndrome 0 trials
  • Sialidosis type 2 0 trials Sub-types →
• Chondrodysplasia punctata 0 trials · 39 incl. sub-types
  8 sub-types

  • CHILD syndrome 37 trials
  • Greenberg dysplasia 2 trials
  • Rhizomelic chondrodysplasia punctata 2 trials Sub-types →
  • Non-rhizomelic chondrodysplasia punctata 0 trials · 1 incl. sub-types Sub-types →
  • Astley-Kendall dysplasia 0 trials
  • Keutel syndrome 0 trials
  • Dappled diaphyseal dysplasia 0 trials
  • Fatty acyl-CoA reductase 1 deficiency 0 trials
• Type 2 collagenopathy 0 trials · 39 incl. sub-types
  14 sub-types

  • Dysplasia of the proximal femoral epiphyses 0 trials · 36 incl. sub-types Sub-types →
  • Stickler syndrome type 1 3 trials Sub-types →
  • Kniest dysplasia 0 trials
  • Achondrogenesis type II 0 trials
  • Hypochondrogenesis 0 trials
  • Multiple epiphyseal dysplasia, Beighton type 0 trials
  • Platyspondylic dysplasia, Torrance type 0 trials
  • Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
  • Spondyloepiphyseal dysplasia congenita 0 trials
  • Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
  • Spondyloepiphyseal dysplasia, Stanescu type 0 trials
  • Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
  • Spondylometaphyseal dysplasia, Schmidt type 0 trials
  • Spondyloperipheral dysplasia 0 trials
• Non-syndromic limb reduction defect 0 trials · 35 incl. sub-types
  40 sub-types

  • Clubfoot 18 trials Sub-types →
  • Non-syndromic amelia 1 trial · 5 incl. sub-types Sub-types →
  • Fanconi anemia complementation group A 4 trials
  • Poland syndrome 2 trials
  • Hemimelia 0 trials · 2 incl. sub-types Sub-types →
  • Cornelia de Lange syndrome 1 1 trial
  • Duane-radial ray syndrome 1 trial Sub-types →
  • Femoral agenesis/hypoplasia 1 trial Sub-types →
  • Femur-fibula-ulna complex 1 trial
  • Thrombocytopenia-absent radius syndrome 1 trial
  • 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
  • Cornelia de Lange syndrome 2 0 trials
  • Cornelia de Lange syndrome 3 0 trials
  • Cornelia de Lange syndrome 4 0 trials
  • Cornelia de Lange syndrome 5 0 trials
  • Fuhrmann syndrome 0 trials
  • Gollop-Wolfgang complex 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Hypoglossia-hypodactyly syndrome 0 trials
  • Roberts-SC phocomelia syndrome 0 trials
  • Acheiropody 0 trials
  • Adactylia, unilateral 0 trials
  • Chromosome 17P13.3, telomeric, duplication syndrome 0 trials
  • Femoral-facial syndrome 0 trials
  • Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0 trials
  • Humeral agenesis/hypoplasia 0 trials Sub-types →
  • Pelvis-shoulder dysplasia 0 trials
  • Pelviscapular dysplasia 0 trials
  • Phocomelia, Schinzel type 0 trials
  • Rapadilino syndrome 0 trials
  • Tetraamelia syndrome 1 0 trials
  • Tetraamelia syndrome 2 0 trials
  • Thrombocythemia 1 0 trials
  • Tibia, hypoplasia or aplasia of, with polydactyly 0 trials
  • Ulnar-mammary syndrome 0 trials
• FGFR3-related chondrodysplasia 0 trials · 33 incl. sub-types
  5 sub-types

  • Achondroplasia 26 trials
  • Hypochondroplasia 9 trials
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 trials
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 trials
  • Thanatophoric dysplasia 0 trials Sub-types →
• Syndromic craniosynostosis 1 trial · 22 incl. sub-types
  40 sub-types

  • Acrocephalosyndactyly 0 trials · 13 incl. sub-types Sub-types →
  • Crouzon syndrome-acanthosis nigricans syndrome 4 trials
  • Antley-Bixler syndrome 2 trials Sub-types →
  • Muenke syndrome 2 trials
  • Crouzon syndrome 1 trial Sub-types →
  • Shprintzen-Goldberg syndrome 1 trial
  • Pseudoaminopterin syndrome 1 trial
  • Baller-Gerold syndrome 0 trials
  • Beare-Stevenson cutis gyrata syndrome 0 trials
  • C syndrome 0 trials
  • Curry-Jones syndrome 0 trials
  • Hunter-McAlpine craniosynostosis 0 trials
  • Lowry-MacLean syndrome 0 trials
  • Summitt syndrome 0 trials
  • TCF12-related craniosynostosis 0 trials
  • Weiss-Kruszka syndrome 0 trials
  • X-linked intellectual disability-plagiocephaly syndrome 0 trials
  • Acrocephalopolydactyly 0 trials
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
  • Cardiocranial syndrome, Pfeiffer type 0 trials
  • Cloverleaf skull-asphyxiating thoracic dysplasia syndrome 0 trials
  • Cloverleaf skull-multiple congenital anomalies syndrome 0 trials
  • Cranioectodermal dysplasia 0 trials Sub-types →
  • Craniomicromelic syndrome 0 trials
  • Craniosynostosis 2 0 trials
  • Craniosynostosis 4 0 trials
  • Craniosynostosis and dental anomalies 0 trials
  • Craniosynostosis, Herrmann-Opitz type 0 trials
  • Craniosynostosis, Philadelphia type 0 trials
  • Craniosynostosis-anal anomalies-porokeratosis syndrome 0 trials
  • Craniosynostosis-cataract syndrome 0 trials
  • Craniosynostosis-fibular aplasia syndrome 0 trials
  • Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 0 trials
  • Craniosynostosis-intracranial calcifications syndrome 0 trials
  • Craniotelencephalic dysplasia 0 trials
  • Familial scaphocephaly syndrome 0 trials Sub-types →
  • Holoprosencephaly-craniosynostosis syndrome 0 trials
  • Lethal occipital encephalocele-skeletal dysplasia syndrome 0 trials
  • Osteosclerosis-developmental delay-craniosynostosis syndrome 0 trials
  • Trigonocephaly-broad thumbs syndrome 0 trials
• Abnormal mineralization disorder 0 trials · 22 incl. sub-types
  18 sub-types

  • X-linked dominant hypophosphatemic rickets 10 trials
  • Hypophosphatemic rickets, autosomal recessive, 1 5 trials
  • Vitamin D hydroxylation-deficient rickets, type 1B 3 trials
  • Hypophosphatemic rickets, autosomal recessive, 2 2 trials
  • Familial hypocalciuric hypercalcemia 1 1 trial
  • Hereditary hypophosphatemic rickets with hypercalciuria 1 trial
  • Hyperparathyroidism 2 with jaw tumors 1 trial
  • Neonatal severe primary hyperparathyroidism 1 trial
  • Autosomal dominant hypophosphatemic rickets 0 trials
  • Chondrocalcinosis 2 0 trials
  • Hyperparathyroidism 1 0 trials
  • Hyperparathyroidism 3 0 trials
  • Hyperparathyroidism 4 0 trials
  • Hyperparathyroidism, transient neonatal 0 trials
  • Hypophosphatemic rickets, X-linked recessive 0 trials
  • Vitamin D-dependent rickets, type 1A 0 trials
  • Vitamin D-dependent rickets, type 2A 0 trials
  • Vitamin D-dependent rickets, type 2B 0 trials
• Osteopetrosis 6 trials · 14 incl. sub-types
  11 sub-types

  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
  • Melorheostosis 3 trials
  • Autosomal recessive osteopetrosis 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal dominant osteopetrosis 0 trials Sub-types →
  • Dysosteosclerosis 0 trials
  • Early-onset calcifying leukoencephalopathy-skeletal dysplasia 0 trials
  • Infantile osteopetrosis with neuroaxonal dysplasia 0 trials Sub-types →
  • Osteomesopyknosis 0 trials
  • Osteopathia striata with cranial sclerosis 0 trials
  • Osteosclerotic metaphyseal dysplasia 0 trials
  • Pycnodysostosis 0 trials
• Amniotic band syndrome 8 trials · 9 incl. sub-types
  1 sub-type

  • Terminal transverse defects of arm 1 trial
• Primordial dwarfism and slender bone disorder 0 trials · 9 incl. sub-types
  26 sub-types

  • IMAGe syndrome 5 trials
  • Kenny-Caffey syndrome 0 trials · 4 incl. sub-types Sub-types →
  • Lowry-Wood syndrome 1 trial
  • Roifman syndrome 1 trial
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 trial
  • Microcephalic osteodysplastic primordial dwarfism type II 1 trial
  • Microcephalic osteodysplastic primordial dwarfism types I and III 0 trials · 1 incl. sub-types Sub-types →
  • 3M syndrome 1 0 trials
  • 3M syndrome 2 0 trials
  • 3M syndrome 3 0 trials
  • Hallermann-Streiff syndrome 0 trials
  • Rothmund-Thomson syndrome type 3 0 trials
  • Seckel syndrome 10 0 trials
  • Seckel syndrome 2 0 trials
  • Seckel syndrome 5 0 trials
  • Seckel syndrome 8 0 trials
  • Seckel syndrome 9 0 trials
  • Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 trials
  • Microcephalic primordial dwarfism due to RTTN deficiency 0 trials Sub-types →
  • Microcephalic primordial dwarfism, Alazami type 0 trials
  • Microcephalic primordial dwarfism, Toriello type 0 trials
  • Microcephaly 13, primary, autosomal recessive 0 trials
  • Osteocraniostenosis 0 trials
  • Short stature, microcephaly, and endocrine dysfunction 0 trials
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 trials
• Acromelic dysplasia 0 trials · 8 incl. sub-types
  18 sub-types

  • Pseudohypoparathyroidism type 1A 7 trials
  • Pseudopseudohypoparathyroidism 2 trials
  • Trichorhinophalangeal syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Acromicric dysplasia 0 trials
  • Angel-shaped phalango-epiphyseal dysplasia 0 trials
  • Leri pleonosteosis 0 trials
  • Myhre syndrome 0 trials
  • Weill-Marchesani syndrome 0 trials Sub-types →
  • Acrocapitofemoral dysplasia 0 trials
  • Acrodysostosis 0 trials Sub-types →
  • Craniofacial conodysplasia 0 trials
  • Geleophysic dysplasia 0 trials Sub-types →
  • Intellectual disability-balding-patella luxation-acromicria syndrome 0 trials
  • Peripheral dysostosis 0 trials
  • Pseudohypoparathyroidism type 1C 0 trials
  • Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
  • Short-rib thoracic dysplasia 9 with or without polydactyly 0 trials
  • Terminal osseous dysplasia-pigmentary defects syndrome 0 trials
• Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types
  28 sub-types

  • Pallister-Hall syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Acrocallosal syndrome 2 trials
  • Meckel syndrome, type 1 1 trial
  • Laurin-Sandrow syndrome 1 trial
  • Acropectorovertebral dysplasia 0 trials
  • Cenani-Lenz syndactyly syndrome 0 trials
  • Filippi syndrome 0 trials
  • Greig cephalopolysyndactyly syndrome 0 trials Sub-types →
  • LADD syndrome 0 trials Sub-types →
  • Meckel syndrome, type 2 0 trials
  • Meckel syndrome, type 3 0 trials
  • Meckel syndrome, type 4 0 trials
  • Meckel syndrome, type 5 0 trials
  • Meckel syndrome, type 6 0 trials
  • Townes-Brocks syndrome 1 0 trials
  • Acropectoral syndrome 0 trials
  • Crossed polydactyly, type I 0 trials
  • Mesoaxial synostotic syndactyly with phalangeal reduction 0 trials
  • Polydactyly of a biphalangeal thumb 0 trials Sub-types →
  • Polydactyly of an index finger 0 trials Sub-types →
  • Polysyndactyly 4 0 trials Sub-types →
  • Syndactyly type 1 0 trials Sub-types →
  • Syndactyly type 3 0 trials
  • Syndactyly type 4 0 trials
  • Syndactyly type 5 0 trials
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
  • Synpolydactyly type 1 0 trials
  • Synpolydactyly type 2 0 trials
• McCune-Albright syndrome 5 trials
• SHOX-related short stature 5 trials
• Primary osteolysis 0 trials · 5 incl. sub-types
  14 sub-types

  • Hutchinson-Gilford progeria syndrome 3 trials
  • Hyaline fibromatosis syndrome 1 trial · 2 incl. sub-types Sub-types →
  • Multicentric carpo-tarsal osteolysis with or without nephropathy 1 trial
  • Nestor-Guillermo progeria syndrome 0 trials
  • Paget disease of bone 2, early-onset 0 trials
  • Acroosteolysis 0 trials Sub-types →
  • Autosomal recessive distal osteolysis syndrome 0 trials
  • Familial expansile osteolysis 0 trials
  • Mandibuloacral dysplasia 0 trials Sub-types →
  • Multicentric osteolysis-nodulosis-arthropathy spectrum 0 trials Sub-types →
  • Pacman dysplasia 0 trials
  • Phalangeal microgeodic syndrome 0 trials
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 0 trials Sub-types →
  • Talo-patello-scaphoid osteolysis 0 trials
• Filamin-related bone disorder 0 trials · 4 incl. sub-types
  6 sub-types

  • Otopalatodigital syndrome spectrum disorder 0 trials · 2 incl. sub-types Sub-types →
  • Spondylocarpotarsal synostosis syndrome 2 trials
  • FLNB-associated autosomal dominant filamin related bone disorder 0 trials Sub-types →
  • Frank-Ter Haar syndrome 0 trials
  • Cardiospondylocarpofacial syndrome 0 trials
  • Terminal osseous dysplasia-pigmentary defects syndrome 0 trials
• Ollier disease 3 trials
• Proteus syndrome 2 trials
• Metaphyseal dysplasia-maxillary hypoplasia-brachydacty 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
• SLC26A2-related skeletal dysplasia 0 trials · 2 incl. sub-types
  4 sub-types

  • Diastrophic dysplasia 2 trials
  • Achondrogenesis type IB 0 trials
  • Atelosteogenesis type II 0 trials
  • Multiple epiphyseal dysplasia type 4 0 trials
• Acheiria 0 trials · 2 incl. sub-types
  2 sub-types

  • Acheiria, unilateral 2 trials
  • Acheiria, bilateral 0 trials
• Bent bone dysplasia 0 trials · 2 incl. sub-types
  11 sub-types

  • Blount disease 2 trials Sub-types →
  • Stüve-Wiedemann syndrome 1 0 trials
  • Weismann-Netter syndrome 0 trials
  • Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency 0 trials
  • Campomelia, Cumming type 0 trials
  • Campomelic dysplasia 0 trials
  • Congenital bowing of long bones 0 trials Sub-types →
  • Familial bent bone dysplasia syndrome 0 trials Sub-types →
  • Kyphomelic dysplasia 0 trials
  • Parastremmatic dwarfism 0 trials
  • Severe lateral tibial bowing with short stature 0 trials
• Short rib dysplasia 0 trials · 2 incl. sub-types
  8 sub-types

  • Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types Sub-types →
  • NEK9-related lethal skeletal dysplasia 0 trials
  • Axial spondylometaphyseal dysplasia 0 trials
  • Orofaciodigital syndrome IV 0 trials
  • Orofaciodigital syndrome type II 0 trials
  • Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 0 trials
  • Thoracolaryngopelvic dysplasia 0 trials
  • Thoracomelic dysplasia 0 trials
• Spondylodysplastic dysplasia 0 trials · 2 incl. sub-types
  9 sub-types

  • Spondylocarpotarsal synostosis syndrome 2 trials
  • Achondrogenesis 0 trials Sub-types →
  • Brachyolmia 0 trials Sub-types →
  • Diaphanospondylodysostosis 0 trials
  • Platyspondylic dysplasia, Torrance type 0 trials
  • Severe spondylodysplastic dysplasia 0 trials Sub-types →
  • Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
  • Skeletal dysplasia-intellectual disability syndrome 0 trials
  • Spondylocamptodactyly syndrome 0 trials
• 2q37 microdeletion syndrome 1 trial
• Currarino triad 1 trial
• Sotos syndrome 1 trial
• Chondromalacia patellae 1 trial
• Coxopodopatellar syndrome 1 trial
• Craniofrontonasal syndrome 1 trial
• COMP-related skeletal dysplasia 0 trials · 1 incl. sub-types
  2 sub-types

  • Pseudoachondroplasia 1 trial
  • Multiple epiphyseal dysplasia type 1 0 trials
• Bruck syndrome 0 trials
  2 sub-types

  • Bruck syndrome 1 0 trials
  • Bruck syndrome 2 0 trials
• Camurati-Engelmann disease 0 trials
  2 sub-types

  • Camurati-Engelmann disease type 1 0 trials
  • Camurati-Engelmann disease type 2 0 trials
• Catel-Manzke syndrome 0 trials
• Cole-Carpenter syndrome 0 trials
  2 sub-types

  • Cole-Carpenter syndrome 1 0 trials
  • Cole-Carpenter syndrome 2 0 trials
• Eiken syndrome 0 trials
• FAM111A-related skeletal dysplasia 0 trials
  2 sub-types

  • Autosomal dominant Kenny-Caffey syndrome 0 trials
  • Osteocraniostenosis 0 trials
• Hartsfield-Bixler-Demyer syndrome 0 trials
• LRP5-related primary osteoporosis 0 trials
• Larsen-like osseous dysplasia-short stature syndrome 0 trials
• Larsen-like syndrome, B3GAT3 type 0 trials
• Lenz-Majewski hyperostotic dwarfism 0 trials
• Marshall-Smith syndrome 0 trials
• Richieri Costa-Pereira syndrome 0 trials
• Robinow syndrome 0 trials
  3 sub-types

  • Autosomal dominant Robinow syndrome 0 trials Sub-types →
  • Autosomal recessive Robinow syndrome 0 trials
  • Robinow syndrome, autosomal recessive 2 0 trials
• TRIP11-related skeletal dysplasia 0 trials
  2 sub-types

  • Achondrogenesis type IA 0 trials
  • Odontochondrodysplasia 0 trials Sub-types →
• TRPV4-related bone disorder 0 trials
  6 sub-types

  • Autosomal dominant brachyolmia 0 trials
  • Familial digital arthropathy-brachydactyly 0 trials
  • Metatropic dysplasia 0 trials
  • Parastremmatic dwarfism 0 trials
  • Spondyloepimetaphyseal dysplasia, Maroteaux type 0 trials
  • Spondylometaphyseal dysplasia, Kozlowski type 0 trials
• Tatton-Brown-Rahman overgrowth syndrome 0 trials
• Weaver syndrome 0 trials
• Yunis-Varon syndrome 0 trials
• Acrocoxomesomelic dysplasia 0 trials
• Adactyly of foot 0 trials
  2 sub-types

  • Adactyly of foot, bilateral 0 trials
  • Adactyly of foot, unilateral 0 trials
• Apodia 0 trials
  2 sub-types

  • Apodia, bilateral 0 trials
  • Apodia, unilateral 0 trials
• Autosomal dominant osteosclerosis, Worth type 0 trials
• Autosomal recessive cutis laxa type 2 0 trials
  4 sub-types

  • Autosomal recessive cutis laxa type 2A 0 trials Sub-types →
  • Autosomal recessive cutis laxa type 2B 0 trials
  • Autosomal recessive cutis laxa type 2C 0 trials
  • Autosomal recessive cutis laxa type 2D 0 trials
• Baby rattle pelvis dysplasia 0 trials
• Bird headed-dwarfism, Montreal type 0 trials
• Bone dysplasia Moore type 0 trials
• Bone dysplasia corpus callosum agenesis 0 trials
• Brachydactyly-elbow wrist dysplasia syndrome 0 trials
• Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 0 trials
• Carpotarsal osteochondromatosis 0 trials
• Cerebrocostomandibular syndrome 0 trials
• Chondroectodermal dysplasia with night blindness 0 trials
• Cleidorhizomelic syndrome 0 trials
• Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
• Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
• Complex lethal osteochondrodysplasia 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
• Craniometadiaphyseal dysplasia, wormian bone type 0 trials
• Craniotubular dysplasia, Ikegawa type 0 trials
• De la Chapelle dysplasia 0 trials
• Delayed membranous cranial ossification 0 trials
• Diaphyseal medullary stenosis-bone malignancy syndrome 0 trials
• Dyschondrosteosis-nephritis syndrome 0 trials
• Dysplasia epiphysealis hemimelica 0 trials
• Dysplasia of head of femur, Meyer type 0 trials
• Dysspondyloenchondromatosis 0 trials
• Epimetaphyseal skeletal dysplasia 0 trials
• Familial osteodysplasia, Anderson type 0 trials
• Fibular aplasia-ectrodactyly syndrome 0 trials
• Genitopatellar syndrome 0 trials
• Genochondromatosis 0 trials
  2 sub-types

  • Genochondromatosis type 1 0 trials
  • Genochondromatosis type 2 0 trials
• Ghosal hematodiaphyseal dysplasia 0 trials
• Hyperostosis corticalis generalisata 0 trials
• Melorheostosis with osteopoikilosis 0 trials
• Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
• Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
• Metaphyseal acroscyphodysplasia 0 trials
• Metaphyseal anadysplasia 0 trials
  1 sub-type

  • Metaphyseal anadysplasia 2 0 trials
• Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
• Metaphyseal dysplasia, Braun-Tinschert type 0 trials
• Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
• Oculodentodigital dysplasia 0 trials
  1 sub-type

  • Oculodentodigital dysplasia, autosomal recessive 0 trials
• Omodysplasia 0 trials
  2 sub-types

  • Autosomal dominant omodysplasia 0 trials
  • Autosomal recessive omodysplasia 0 trials
• Osteofibrous dysplasia 0 trials
• Osteoglophonic dysplasia 0 trials
• Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials
• Parietal foramina 0 trials
  3 sub-types

  • Parietal foramina 1 0 trials
  • Parietal foramina 2 0 trials
  • Parietal foramina 3 0 trials
• Parietal foramina with cleidocranial dysplasia 0 trials
• Pelvic dysplasia-arthrogryposis of lower limbs syndrome 0 trials
• Proximal femoral focal deficiency 0 trials
• Pseudodiastrophic dysplasia 0 trials
• Rhizomelic dysplasia, Ain-Naz type 0 trials
• Rhizomelic dysplasia, Patterson-Lowry type 0 trials
• Rhizomelic syndrome, Urbach type 0 trials
• Short stature-advanced bone age-early-onset osteoarthritis syndrome 0 trials
• Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
• Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 trials
• Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
• Spondylometaphyseal dysplasia 0 trials
  19 sub-types

  • Kniest dysplasia 0 trials
  • SBDS-related severe neonatal spondylometaphyseal dysplasia 0 trials
  • Spondyloenchondrodysplasia with immune dysregulation 0 trials
  • Autosomal recessive spondylometaphyseal dysplasia, Megarbane type 0 trials
  • Axial spondylometaphyseal dysplasia 0 trials
  • Odontochondrodysplasia 0 trials Sub-types →
  • Regressive spondylometaphyseal dysplasia 0 trials
  • Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
  • Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
  • Spondylometaphyseal dysplasia, A4 type 0 trials
  • Spondylometaphyseal dysplasia, Czarny-Ratajczak type 0 trials
  • Spondylometaphyseal dysplasia, East African type 0 trials
  • Spondylometaphyseal dysplasia, Golden type 0 trials
  • Spondylometaphyseal dysplasia, Kozlowski type 0 trials
  • Spondylometaphyseal dysplasia, Schmidt type 0 trials
  • Spondylometaphyseal dysplasia, Sedaghatian type 0 trials
  • Spondylometaphyseal dysplasia, pagnamenta type 0 trials
  • Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 0 trials
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• Synpolydactyly 0 trials
  1 sub-type

  • Non-syndromic synpolydactyly 0 trials Sub-types →
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• Thin ribs-tubular bones-dysmorphism syndrome 0 trials
• Tricho-dento-osseous syndrome 0 trials