Skeletal dysplasia

MONDO:0018230

Any Mendelian diseases that affects growth and development of the skeleton.

Also known as: Mendelian skeletal dysplasia, primary bone dysplasia, primary osteodysplasia, primary skeletal dysplasia

660 clinical trials for this condition and its sub-types, 1 tagged with Skeletal dysplasia itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187) ↑ Bone disorder (6290)

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
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 0 trials
Synpolydactyly 0 trials
1 sub-type
- Non-syndromic synpolydactyly 0 trials Sub-types →
Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
Thin ribs-tubular bones-dysmorphism syndrome 0 trials
Tricho-dento-osseous syndrome 0 trials

Most studied deeper sub-types

Osteoporosis (277) Postmenopausal osteoporosis (53) Avascular necrosis of femoral head, primary, 1 (34) Apert syndrome (11) Legg-Calve-Perthes disease (9) Osteogenesis imperfecta type 3 (9) Osteogenesis imperfecta type 1 (8) Osteogenesis imperfecta type 4 (7) Glucocorticoid-induced osteoporosis (6) Autosomal recessive Kenny-Caffey syndrome (4) Brittle bone disorder (4) Saethre-Chotzen syndrome (3) Amelia of lower limb (2) Amelia of upper limb (2) Congenital hypothalamic hamartoma syndrome (2) Desmosterolosis (2) Frontometaphyseal dysplasia (2) Frontometaphyseal dysplasia 2 (2) Langer mesomelic dysplasia (2) Stickler syndrome (2)

Including sub-types (660) Tagged with Skeletal dysplasia (1)

Trials to join now! 233 Not yet recruiting 58 Not yet finished but already full! 169 Completed 180 Terminated 20

Skeletal dysplasia

Where it sits in the disease tree

Most studied deeper sub-types

One-Time gene therapy aims to halt sanfilippo syndrome

Two ways to rebuild a Child's bone: which holds up?

Can a new antibody rebuild bone in osteoporosis?

Can a single dose of zoledronic acid safely treat bone loss in dialysis patients?

Can better posture strengthen the pelvic floor in osteoporosis?

New hope for kids with sanfilippo syndrome b?

Gene therapy before birth: a new hope for babies with GM1 disease

Can group exercise help fragile bones? new study aims to find out

Can a new drug sequence build stronger bones than standard care?

A tastier calcium chew might boost bone Health—But does it work?

Can a One-Year bone drug switch beat standard therapy for Steroid-Induced bone loss?

Hope for sanfilippo kids: Brain-Infused drug enters final testing

Light on bones: laser therapy may boost bone health in postmenopausal women

New Four-Drug cocktail aims to wipe out Hard-to-Treat myeloma

Oxygen therapy may boost hip procedure for bone death

Denture cap showdown: which material saves more bone?

New Bone-Strengthening device for osteoporosis under review

Could donor stem cells help kids with brittle bones grow taller and stronger?

Could a Once-Daily probiotic help bones? new trial begins

Custom 3D-Printed bone implants: a new hope for defect repair?

Gene therapy hope for rare childhood disease AGU

Which surgery fixes clubfoot best? new trial aims to find out

Can a vitamin D2 blast speed up recovery in lymphoma patients?

New combo aims to shield diabetic bones from breaking

New daily pill aims to boost growth in kids with dwarfism

Home workouts may boost bones in women at risk of osteoporosis

New CPR technique could boost survival after cardiac arrest

Popular diabetes drug semaglutide under scrutiny for bone effects

One scan to catch two silent threats: MRI may spot bone and muscle loss in kidney patients

Quick quiz could spot brittle bones without costly scans

A simple brush could spot mouth cancer early in fanconi anaemia patients

Numbing patch may stop chronic pain after osteoporosis fractures

Massive hong kong study aims to stop osteoporosis before it starts

Could cannabis oil be a new key to chronic pain relief and stronger bones in women?

Exercise program aims to steady the stance of osteoporosis patients

Can a simple massage tool ease chest pain that mimics a heart attack?

Robots take on fragile pelvis fractures in the elderly

New plaster aims to soothe chemo side effect

Shoes that could change how stroke survivors walk

Can stem cells from a child with progeria reveal a path to therapy?

Could lipedema weaken bones? a new study investigates

Smartphone videos could unlock secrets of rare brain disease

Saliva may reveal hidden links between bone loss and tooth decay

New model aims to predict jaw bone disease before it strikes

Dental scans and AI could spot rare bone diseases faster

Could low vitamin c weaken bones? new study investigates

Massive new registry to track menopause health in 5,000 women

New drilling technique could make dental implants more stable in weak bone

Lab study explores better carrier for bone-healing protein

Can blood proteins predict bone and muscle loss in older women?

Waiting game: how treatment delays raise fracture risk

Ultrasound maps hidden nerves in clubfoot babies to make surgery safer

Robot doctor calls: AI assistant to handle bone fracture Check-Ins

Can ancient chinese medicine help predict modern bone breaks?

Skin glow test may reveal hidden fracture risk

Dental implant study tests which abutment size preserves jawbone best

Scoliosis study: how curve type affects breathing and sleep in teens

New study aims to unmask hidden causes of childhood joint stiffness