Agent Commons Collaborative Research

Skeletal dysplasia

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

Identifiers
MONDO:0018230 Orphanet:364526
Part of
Bone disorderHereditary disease
Also known as
Mendelian skeletal dysplasia · primary bone dysplasia · primary osteodysplasia · primary skeletal dysplasia

Subtypes

All diseases Rare only
Disease Subtypes
Osteochondrodysplasia 248
Non-syndromic limb reduction defect 69
Syndromic craniosynostosis 69
Short rib dysplasia 44
Polydactyly-syndactyly-triphalangism 43
Lysosomal storage disease with skeletal involvement 34
Primordial dwarfism and slender bone disorder 31
Acromelic dysplasia 29
Osteopetrosis 25
Primary osteolysis 23
Spondylodysplastic dysplasia 23
Spondylometaphyseal dysplasia 21
Chondrodysplasia punctata 20
Abnormal mineralization disorder 18
Type 2 collagenopathy 18
Filamin-related bone disorder 17
Bent bone dysplasia 16
FGFR3-related chondrodysplasia 10
Synpolydactyly 7
Robinow syndrome 6
TRPV4-related bone disorder 6
Autosomal recessive cutis laxa type 2 5
SLC26A2-related skeletal dysplasia 4
TRIP11-related skeletal dysplasia 4
FBN1-related geleophysic and acromelic dysplasia 3
Parietal foramina 3
Bruck syndrome 2
COMP-related skeletal dysplasia 2
Camurati-Engelmann disease 2
Cole-Carpenter syndrome 2
FAM111A-related skeletal dysplasia 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
Genochondromatosis 2
Omodysplasia 2
Amniotic band syndrome 1
Metaphyseal anadysplasia 1
Oculodentodigital dysplasia 1
2q37 microdeletion syndrome
Catel-Manzke syndrome
Currarino triad
Eiken syndrome
Hartsfield-Bixler-Demyer syndrome
LRP5-related primary osteoporosis
Larsen-like osseous dysplasia-short stature syndrome
Larsen-like syndrome, B3GAT3 type
Lenz-Majewski hyperostotic dwarfism
Marshall-Smith syndrome
Ollier disease
Proteus syndrome
Richieri Costa-Pereira syndrome
SHOX-related short stature
Sotos syndrome
Tatton-Brown-Rahman overgrowth syndrome
Weaver syndrome
Yunis-Varon syndrome
Autosomal dominant osteosclerosis, Worth type
Baby rattle pelvis dysplasia
Bird headed-dwarfism, Montreal type
Brachydactyly-elbow wrist dysplasia syndrome
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Carpotarsal osteochondromatosis
Cerebrocostomandibular syndrome
Chondroectodermal dysplasia with night blindness
Chondromalacia patellae
Cleidorhizomelic syndrome
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Complex lethal osteochondrodysplasia
Congenital absence of upper arm and forearm with hand present
Coxopodopatellar syndrome
Craniofrontonasal syndrome
Craniometadiaphyseal dysplasia, wormian bone type
Craniotubular dysplasia, Ikegawa type
De la Chapelle dysplasia
Delayed membranous cranial ossification
Diaphyseal medullary stenosis-bone malignancy syndrome
Dyschondrosteosis-nephritis syndrome
Dysplasia epiphysealis hemimelica
Dysplasia of head of femur, Meyer type
Dysspondyloenchondromatosis
Familial osteodysplasia, Anderson type
Fibular aplasia-ectrodactyly syndrome
Genitopatellar syndrome
Ghosal hematodiaphyseal dysplasia
Hyperostosis corticalis generalisata
Melorheostosis with osteopoikilosis
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Metaphyseal acroscyphodysplasia
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia, Braun-Tinschert type
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Microcephalic primordial dwarfism due to ZNF335 deficiency
Osteofibrous dysplasia
Osteoglophonic dysplasia
Pancreatic insufficiency-anemia-hyperostosis syndrome
Parietal foramina with cleidocranial dysplasia
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Proximal femoral focal deficiency
Pseudodiastrophic dysplasia
Rhizomelic dysplasia, Ain-Naz type
Rhizomelic dysplasia, Patterson-Lowry type
Rhizomelic syndrome, Urbach type
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Split hand-foot malformation 1 with sensorineural hearing loss
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Thin ribs-tubular bones-dysmorphism syndrome
Tricho-dento-osseous syndrome

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