Orphanet: Diagnose van skeletdysplasie genenpanel

x

Share
Share

Search for a diagnostic test

Diagnosis of skeletal dysplasia (gene panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/03/2020

Molecular diagnostic laboratory, Department of Medical Genetics - UZA
Center of Medical Genetics, Antwerp University Hospital
Centrum Medische Genetica - UZA
Prins Boudewijnlaan 43
2650 ANTWERPEN-EDEGEM
BELGIUM
Director of laboratory : Pr Wim WUYTS
More information

Phone : +32 (0)3 275 97 74
Additional Phone : +32 (0)3 275 97 40
Fax : +32 (0)3 275 97 23
Website
Contact
email

Last update: March 2020

Responsible of diagnostic test

Pr Wim WUYTS

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (371)

12q14 microdeletion syndrome

17q11 microdeletion syndrome

2q37 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

Achondrogenesis type 1A

Achondrogenesis type 1B

Achondrogenesis type 2

Acrocallosal syndrome

Acrocapitofemoral dysplasia

Acrofacial dysostosis, Rodríguez type

Acrofacial dysostosis, Weyers type

Acromesomelic dysplasia, Grebe type

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dysplasia, Maroteaux type

Acromicric dysplasia

Adams-Oliver syndrome

Adult hypophosphatasia

Albers-Schönberg osteopetrosis

Anauxetic dysplasia

Angel-shaped phalango-epiphyseal dysplasia

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Antley-Bixler syndrome

Atelosteogenesis type I

Atelosteogenesis type II

Atelosteogenesis type III

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant Robinow syndrome

Autosomal dominant brachyolmia

Autosomal dominant hypophosphatemic rickets

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant omodysplasia

Autosomal dominant osteopetrosis type 1

Autosomal dominant otospondylomegaepiphyseal dysplasia

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal dominant spondylocostal dysostosis

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive Robinow syndrome

Autosomal recessive Stickler syndrome

Autosomal recessive brachyolmia

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2B

Autosomal recessive hypophosphatemic rickets

Autosomal recessive malignant osteopetrosis

Autosomal recessive omodysplasia

Autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Baller-Gerold syndrome

Blomstrand lethal chondrodysplasia

Boomerang dysplasia

Brachydactyly type A1

Brachydactyly type A2

Brachydactyly type B1

Brachydactyly type B2

Brachydactyly type C

Brachydactyly type E

Brachydactyly-arterial hypertension syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-syndactyly, Zhao type

Brachytelephalangic chondrodysplasia punctata

CHST3-related skeletal dysplasia

CLOVES syndrome

Campomelic dysplasia

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camurati-Engelmann disease

Carpenter syndrome

Cenani-Lenz syndrome

Childhood-onset hypophosphatasia

Chondrodysplasia with joint dislocations, gPAPP type

Cleidocranial dysplasia

Cole-Carpenter syndrome

Congenital contractural arachnodactyly

Cornelia de Lange syndrome

Coxopodopatellar syndrome

Cranio-osteoarthropathy

Craniodiaphyseal dysplasia

Cranioectodermal dysplasia

Craniofrontonasal dysplasia

Craniometaphyseal dysplasia

Craniosynostosis, Boston type

Crouzon syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Currarino syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Dent disease type 1

Desbuquois syndrome

Desmosterolosis

Diaphanospondylodysostosis

Diastrophic dysplasia

Dyggve-Melchior-Clausen disease

Dysosteosclerosis

Dyssegmental dysplasia, Silverman-Handmaker type

Dysspondyloenchondromatosis

Ear-patella-short stature syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

Ellis Van Creveld syndrome

Endocrine-cerebro-osteodysplasia syndrome

Endosteal hyperostosis, Worth type

Enlarged parietal foramina

FGFR2-related bent bone dysplasia

Familial calcium pyrophosphate deposition

Familial clubfoot due to 17q23.1q23.2 microduplication

Familial clubfoot due to 5q31 microdeletion

Familial clubfoot due to PITX1 point mutation

Familial digital arthropathy-brachydactyly

Familial expansile osteolysis

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Familial hypocalciuric hypercalcemia type 1

Familial scaphocephaly syndrome, McGillivray type

Feingold syndrome type 1

Fibrochondrogenesis

Fibrodysplasia ossificans progressiva

Fibular aplasia-complex brachydactyly syndrome

Frank-Ter Haar syndrome

Frontometaphyseal dysplasia

Frontonasal dysplasia-alopecia-genital anomalies syndrome

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Fuhrmann syndrome

Geleophysic dysplasia

Genitopatellar syndrome

Geroderma osteodysplastica

Ghosal hematodiaphyseal dysplasia

Gnathodiaphyseal dysplasia

Greenberg dysplasia

Greig cephalopolysyndactyly syndrome

Guttmacher syndrome

Hajdu-Cheney syndrome

Hand-foot-genital syndrome

Hartsfield syndrome

Heart-hand syndrome, Slovenian type

Hereditary hypophosphatemic rickets with hypercalciuria

High bone mass osteogenesis imperfecta

Holt-Oram syndrome

Hutchinson-Gilford progeria syndrome

Hyperostosis corticalis generalisata

Hyperphosphatasia-intellectual disability syndrome

Hypochondrogenesis

Hypochondroplasia

Idiopathic juvenile osteoporosis

Infantile hypophosphatasia

Infantile osteopetrosis with neuroaxonal dysplasia

Infantile systemic hyalinosis

Intermediate osteopetrosis

Ischiovertebral syndrome

Isolated Klippel-Feil syndrome

Isolated congenital digital clubbing

Isolated osteopoikilosis

Isolated split hand-split foot malformation

Jackson-Weiss syndrome

Juvenile Paget disease

Juvenile hyaline fibromatosis

Keutel syndrome

Kniest dysplasia

LRP5-related primary osteoporosis

Lacrimoauriculodentodigital syndrome

Langer mesomelic dysplasia

Larsen syndrome

Laurin-Sandrow syndrome

Lenz-Majewski hyperostotic dwarfism

Lethal osteosclerotic bone dysplasia

Leukocyte adhesion deficiency type III

Limb-mammary syndrome

Loeys-Dietz syndrome

Léri-Weill dyschondrosteosis

Maffucci syndrome

Majeed syndrome

Mandibuloacral dysplasia with type A lipodystrophy

Mandibuloacral dysplasia with type B lipodystrophy

Mandibulofacial dysostosis-microcephaly syndrome

Marfan syndrome type 1

Marfan syndrome type 2

Marshall syndrome

Marshall-Smith syndrome

McCune-Albright syndrome

Meckel syndrome

Melnick-Needles syndrome

Metachondromatosis

Metaphyseal anadysplasia

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Schmid type

Metaphyseal chondrodysplasia, Spahr type

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

Metatropic dysplasia

Microcephalic osteodysplastic primordial dwarfism type II

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Mirror-image polydactyly

Monostotic fibrous dysplasia

Muenke syndrome

Multicentric carpo-tarsal osteolysis with or without nephropathy

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia, Beighton type

Multiple osteochondromas

Multiple synostoses syndrome

Nail-patella syndrome

Nasu-Hakola disease

Neonatal severe primary hyperparathyroidism

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Non-syndromic bicoronal craniosynostosis

Non-syndromic bilambdoid craniosynostosis

Non-syndromic metopic craniosynostosis

Non-syndromic non-specific multisutural craniosynostosis

Non-syndromic sagittal craniosynostosis

Non-syndromic unilambdoid craniosynostosis

Oculodentodigital dysplasia

Odontochondrodysplasia

Odontohypophosphatasia

Okihiro syndrome due to 20q13 microdeletion

Okihiro syndrome due to a point mutation

Opsismodysplasia

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 4

Orofaciodigital syndrome type 6

Osteocraniostenosis

Osteogenesis imperfecta type 1

Osteogenesis imperfecta type 2

Osteogenesis imperfecta type 3

Osteogenesis imperfecta type 4

Osteogenesis imperfecta type 5

Osteopathia striata-cranial sclerosis syndrome

Osteopetrosis with renal tubular acidosis

Osteopetrosis-hypogammaglobulinemia syndrome

Osteoporosis-pseudoglioma syndrome

Osteosclerosis-developmental delay-craniosynostosis syndrome

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

Otospondylomegaepiphyseal dysplasia

Pachydermoperiostosis

Pallister-Hall syndrome

Parastremmatic dwarfism

Parietal foramina with clavicular hypoplasia

Pelviscapular dysplasia

Perinatal lethal hypophosphatasia

Pfeiffer syndrome type 1

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

Phocomelia, Schinzel type

Platyspondylic dysplasia, Torrance type

Polydactyly of a triphalangeal thumb

Polyostotic fibrous dysplasia

Postaxial acrofacial dysostosis

Postaxial polydactyly type A

Postaxial polydactyly type B

Prenatal benign hypophosphatasia

Progressive osseous heteroplasia

Progressive pseudorheumatoid arthropathy of childhood

Proteus syndrome

Proximal symphalangism

Pseudoachondroplasia

Pseudohypoparathyroidism type 1C

Pseudopseudohypoparathyroidism

Pycnodysostosis

RAPADILINO syndrome

Radial hemimelia

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Regressive spondylometaphyseal dysplasia

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Roberts syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

SHOX-related short stature

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Saldino-Mainzer syndrome

Schimke immuno-osseous dysplasia

Schneckenbecken dysplasia

Schwartz-Jampel syndrome

Seckel syndrome

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Short rib-polydactyly syndrome type 5

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome, Verma-Naumoff type

Short stature-advanced bone age-early-onset osteoarthritis syndrome

Shprintzen-Goldberg syndrome

Shwachman-Diamond syndrome

Singleton-Merten dysplasia

Smith-McCort dysplasia

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-ocular syndrome

Spondylocarpotarsal synostosis

Spondyloenchondrodysplasia

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

Spondyloepimetaphyseal dysplasia, Missouri type

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepimetaphyseal dysplasia, matrilin-3 type

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia with metatarsal shortening

Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Maroteaux type

Spondyloepiphyseal dysplasia, Stanescu type

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Kozlowski type

Spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia, Sedaghatian type

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Spondyloperipheral dysplasia-short ulna syndrome

Sterile multifocal osteomyelitis with periostitis and pustulosis

Stickler syndrome type 1

Stickler syndrome type 2

Stüve-Wiedemann syndrome

Syndactyly type 3

Syndactyly type 5

Syndactyly-telecanthus-anogenital and renal malformations syndrome

Synpolydactyly type 1

Synpolydactyly type 2

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tarsal-carpal coalition syndrome

Temtamy preaxial brachydactyly syndrome

Terminal osseous dysplasia-pigmentary defects syndrome

Tetraamelia-multiple malformations syndrome

Thanatophoric dysplasia type 1

Thanatophoric dysplasia type 2

Thrombocythemia with distal limb defects

Thrombocytopenia-absent radius syndrome

Tibial hemimelia

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Townes-Brocks syndrome

Treacher-Collins syndrome

Tricho-dento-osseous syndrome

Trichorhinophalangeal syndrome type 2

Ulnar-mammary syndrome

Weaver syndrome

Weill-Marchesani syndrome

Wolcott-Rallison syndrome

Wrinkly skin syndrome

X-linked dominant chondrodysplasia punctata

X-linked hypophosphatemia

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome

X-linked osteoporosis with fractures

Yunis-Varon syndrome

Zygodactyly type 3

List of genes tested (including panels) (313)

Additional information

Description of the activity

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.