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Up to: Hereditary disease · Bone disorder

Skeletal dysplasia

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

1 trial tagged with this condition →

Osteochondrodysplasia 12 trials · 380 incl. sub-types Sub-types →
Lysosomal storage disease with skeletal involvement 0 trials · 63 incl. sub-types Sub-types →
Chondrodysplasia punctata 0 trials · 39 incl. sub-types Sub-types →
Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
Non-syndromic limb reduction defect 0 trials · 35 incl. sub-types Sub-types →
FGFR3-related chondrodysplasia 0 trials · 33 incl. sub-types Sub-types →
Syndromic craniosynostosis 1 trial · 22 incl. sub-types Sub-types →
Abnormal mineralization disorder 0 trials · 22 incl. sub-types Sub-types →
Osteopetrosis 6 trials · 14 incl. sub-types Sub-types →
Amniotic band syndrome 8 trials · 9 incl. sub-types Sub-types →
Primordial dwarfism and slender bone disorder 0 trials · 9 incl. sub-types Sub-types →
Acromelic dysplasia 0 trials · 8 incl. sub-types Sub-types →
Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
McCune-Albright syndrome 5 trials
SHOX-related short stature 5 trials
Primary osteolysis 0 trials · 5 incl. sub-types Sub-types →
Filamin-related bone disorder 0 trials · 4 incl. sub-types Sub-types →
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 Sub-types →
SLC26A2-related skeletal dysplasia 0 trials · 2 incl. sub-types Sub-types →
Acheiria 0 trials · 2 incl. sub-types Sub-types →
Bent bone dysplasia 0 trials · 2 incl. sub-types Sub-types →
Short rib dysplasia 0 trials · 2 incl. sub-types Sub-types →
Spondylodysplastic dysplasia 0 trials · 2 incl. sub-types Sub-types →
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 Sub-types →
Bruck syndrome 0 trials Sub-types →
Camurati-Engelmann disease 0 trials Sub-types →
Catel-Manzke syndrome 0 trials
Cole-Carpenter syndrome 0 trials Sub-types →
Eiken syndrome 0 trials
FAM111A-related skeletal dysplasia 0 trials Sub-types →
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 Sub-types →
TRIP11-related skeletal dysplasia 0 trials Sub-types →
TRPV4-related bone disorder 0 trials Sub-types →
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 Sub-types →
Apodia 0 trials Sub-types →
Autosomal dominant osteosclerosis, Worth type 0 trials
Autosomal recessive cutis laxa type 2 0 trials Sub-types →
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 Sub-types →
Congenital absence of thigh and lower leg with foot present 0 trials Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
Omodysplasia 0 trials Sub-types →
Osteofibrous dysplasia 0 trials
Osteoglophonic dysplasia 0 trials
Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials
Parietal foramina 0 trials Sub-types →
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 Sub-types →
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