5.4 - Classification internationales des Maladies Osseuses Constitutionnelles
Bone diseases list:
Achondroplasia (FGFR3) group
Type 2 collagen group
Type 11 collagen group
Sulphation disorders group
Perlecan group
Filamin group
Short-rib dysplasia (SRP) (with or without polydactyly) group
Metatropic dysplasia group
Multiple epiphyseal dysplasias and pseudoachondroplasia group
Metaphyseal dysplasia
Spondylometaphyseal dysplasias (SMD)
Spondylo-epi-(meta-) physeal dysplasias [SE(M)D]
Severe spondylodysplastic dysplasia
Moderate spondylodysplastic dysplasia group (brachiolmias)
Acromelic dysplasias
Acromesomelic dysplasia
Mesomelic and rhizo-mesomelic dysplasias
Bent bones dysplasia group
Slender bone dysplasia group
Dysplasias with multiple joint dislocations
Chondrodysplasia punctata (CDP) group
Neonatal osteosclerotic dysplasias
Increased bone density group (without modification of bone shape)
Increased bone density group with metaphyseal and/or diaphyseal involvement
Decreased bone density group
Defective mineralization group
Lysosomal storage disease with skeletal involvement (dysostosys multiplex group)
Osteolysis group
Disorganized development of skeletal
Cleidocranial dysplasia group
Craniosynostosis syndromes and other cranial ossification disorders
Dysostoses with predominant craniofacial involvement
Dysostoses with predominant vertebral and costal involvement
Patellar dysostoses
Brachydactylies (with or without extraskeletal manifestations)
Limb hypoplasia- reduction defects group
Polydactyly-Syndactyly-Triphalangism group
Defects in joint formation and synostosis group
Overgrowth syndromes
Other lethal chondrodysplasias
Limb-girdl bone anomalies
Harmonic mesomelias
Dysharmonic mesomelias
Miscellaneous metabolic diseases with bone involvement
Miscellaneous malformative syndromes with bone involvement
Achondroplasia (FGFR3) group
Thanatophoric dwarfism
Thanatophoric dwarfism type I
Thanatophoric dwarfism type II
Achondroplasia
Hypochondroplasia
Severe achondroplasia - developmental delay - acanthosis nigricans
Skeletal dysplasia san diego type
Type 2 collagen group
Achondrogenesis type 2
Platyspondylic dysplasia, Torrance type
Hypochondrogenesis
Spondyloepiphyseal dysplasia, congenital type
Early onset osteoarthritis with mild spondyloepiphyseal dysplasia due to COL2A1 mutation
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Kniest dysplasia
Spondyloperipheral dysplasia short ulna
Stickler syndrome, type 1
Type 11 collagen group
Stickler syndrome, type 2
Marshall syndrome
Otospondylomegaepiphyseal dysplasia
Weissenbacher zweymuller syndrome
Sulphation disorders group
Achondrogenesis type 1B
Atelosteogenesis II
Diastrophic dwarfism
Multiple epiphyseal dysplasia, type 4
Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Pakistani type
Bone dysplasia lethal holmgren type
Perlecan group
Dyssegmental dysplasia silverman handmaker type
Schwartz-Jampel syndrome
Richieri-Costa Da Silva syndrome
Filamin group
Frontometaphyseal dysplasia
Melnick-Needles osteodysplasty
Otopalatodigital syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Atelosteogenesis I
Boomerang dysplasia
Short ribs craniosynostosis polysyndactyly
Atelosteogenesis III
Larsen syndrome, dominant type
Synspondylism
Spondylocarpotarsal synostosis
Short-rib dysplasia (SRP) (with or without polydactyly) group
Ellis Van Creveld syndrome
Short rib - polydactyly syndrome
Short rib-polydactyly syndrome, Beemer-Langer type (type 4)
Short rib-polydactyly syndrome, Majewski type (type 2)
Short rib-polydactyly syndrome, Saldino-Noonan type (type 1)
Short rib-polydactyly syndrome, Verma-Naumoff type (type 3)
Orofaciodigital syndrome, type 4
Jeune syndrome
Thoracomelic dysplasia
Metatropic dysplasia group
Fibrochondrogenesis
Schneckenbecken dysplasia
Metatropic dwarfism
Multiple epiphyseal dysplasias and pseudoachondroplasia group
Pseudoachondroplasia
Pseudoachondroplastic dysplasia, type 1
Pseudoachondroplastic dysplasia, type 2
Pseudoachondroplastic dysplasia, type 3
Pseudoachondroplastic dysplasia, type 4
Epiphyseal dysplasia multiple
Multiple epiphyseal dysplasia, type 1
Multiple epiphyseal dysplasia, type 2
Multiple epiphyseal dysplasia, type 3
Multiple epiphyseal dysplasia, type 5
Multiple epiphyseal dysplasia, type 6
Multiple epiphyseal dysplasia, other type
Hip dysplasia Beukes type
Epiphyseal dysplasia microcephaly nystagmus
Metaphyseal dysplasia
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, recessive type
Metaphyseal chondrodysplasia, others
Anauxetic dysplasia
Metaphyseal chondrodysplasia, Jansen type
Shwachman-diamond syndrome
CINCA syndrome
CINCA syndrome with CIAS1 mutations
CINCA syndrome without CIAS1 mutations
Metaphyseal chondrodysplasia spahr type
Metaphyseal acroschyphodysplasia
Metaphyseal anadysplasia
Ulna metaphyseal dysplasia syndrome
Metaphyseal dysostosis mental retardation conductive deafness
Metaphyseal dysplasia maxillary hypoplasia brachydacty
Spondylometaphyseal dysplasias (SMD)
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia - cone-rod dystrophy
Spondylometaphyseal dysplasia with combined immunodeficiency
Micromelic dwarfism fryns type
Spondylo-epi-(meta-) physeal dysplasias [SE(M)D]
Dyggve-Melchior-Clausen disease
Immuno osseous dysplasia schimke type
Arthropathy progressive pseudorheumatoid of childhood
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia tarda
Wolcott-Rallison syndrome
Desbuquois syndrome
Spondyloepimetaphyseal dysplasia, Matrilin type
Spondyloepimetaphyseal dysplasia, Missouri type
SPONASTRIME dysplasia
Spondyloepimetaphyseal dysplasia short limb-abnormal calcification type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, X linked
Spondyloepimetaphyseal dysplasia Irapa type
Spondyloepimetaphyseal dysplasia congenita, Iraqi type
Brachydactylous dwarfism, Mseleni type
Camptodactyly joint contractures facial skeletal defects
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
Severe spondylodysplastic dysplasia
Achondrogenesis type 1A
Spondylometaphyseal dysplasia, Sedaghatian type
Opsismodysplasia
Diaphanospondylodysostosis
Moderate spondylodysplastic dysplasia group (brachiolmias)
Brachyolmia
Brachyolmia, Hobaek type
Brachyolmia, Maroteaux type
Brachyolmia, Toledo type
Brachyolmia, autosomal dominant type
Spinal dysostosis type anhalt
Platyspondyly amelogenesis imperfecta
Acromelic dysplasias
Trichorhinophalangeal syndrome, type 1 and 3
Langer-Giedion syndrome
Acrocapitofemoral dysplasia
Angel-shaped phalango-epiphyseal dysplasia
Weill marchesani syndrome
Brachydactyly - arterial hypertension
Acrodysostosis
Acromicric dysplasia
Cranioectodermal dysplasia
Craniofacial conodysplasia
Familial digital arthropathy – Brachydactyly
Geleophysic dwarfism
Dysostosis peripheral
Gurrieri syndrome
Mental retardation balding patella luxation acromicria
Acromesomelic dysplasia
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia Hunter-Thompson type
Fibula aplasia complex brachydactyly
Brachydactyly A6 (Osebold-Remondini syndrome)
Cranioectodermal dysplasia
Acromesomelic dysplasia brahimi bacha type
Mesomelic and rhizo-mesomelic dysplasias
Dyschondrosteosis
Mesomelic dwarfism reinhardt pfeiffer type
Mesomelic dwarfism langer type
Covesdem syndrome
Mesomelic dwarfism nievergelt type
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dysplasia skin dimples
Robinow syndrome, dominant form
Mesomelic dysplasia thai type
Mesomelia synostoses
Mesomelic dysplasia, Savarirayan type
Omodysplasia
Omodysplasia, autosomal dominant form
Omodysplasia, autosomal recessive form
Micromelic dysplasia - dislocation of radius
Cleido rhizomelic syndrome
Dyschondrosteosis nephritis
Upper limb mesomelic dysplasia
Rhizomelic syndrome
Patterson-Lowry rhizomelic dysplasia
Madelung deformity
Bent bones dysplasia group
Campomelic dysplasia
Acampomelic campomelic dysplasia
Mild campomelic dysplasia
Stuve Wiedemann dysplasia
Campomelia Cumming type
Kyphomelic dysplasia
Bowing of long bones, congenital
Blount disease
Toxopachyosteos!s, diaphyseal, tibiofibular
Slender bone dysplasia group
3M syndrome
Kenny caffey syndrome
Kenny caffey syndrome, type 1
Kenny caffey syndrome, type 2
Microcephalic osteodysplastic primordial dwarfism type 1 and 3
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 3
Microcephalic osteodysplastic primordial dwarfism type 2
IMAGE syndrome
Osteocraniostenosis
Seckel syndrome
Dwarfism thin bones multiple fractures
Dysplasias with multiple joint dislocations
Desbuquois syndrome
Pseudodiastrophic dysplasia
Larsen syndrome, recessive type
Larsen-like syndrome, lethal form
Chondrodysplasia punctata (CDP) group
X-linked dominant chondrodysplasia punctata
Chondrodysplasia punctata, brachytelephalangic
Toriello-Higgins-Miller syndrome
Chondrodysplasia punctata, Sheffield type
Chondrodysplasia punctata, brachytelephalangic
Chondrysplasia punctata, humero-metacarpal type
CHILD syndrome
Greenberg dysplasia
Pelget-Huer, anomalie de
Chondrodysplasia punctata, rhizomelic type
Rhizomelic chondrodysplasia punctata, type 1
Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 3
Astley-Kendall dysplasia
Neonatal osteosclerotic dysplasias
Chondrodysplasia, Blomstrand type
Desmosterolosis
Caffey disease
Lethal osteosclerotic bone dysplasia
Increased bone density group (without modification of bone shape)
Osteopetrosis, malignant
Osteopetrosis, intermediate form
Osteopetrosis, mild autosomal recessive, intermediate type
Osteopetrosis autosomal dominant type 1
Osteosclerosis autosomal dominant worth type
Albers-Schonberg disease
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
Pycnodysostosis
Buschke-Ollendorff syndrome
Melorheostosis
Mixed sclerosing bone dystrophy
Dysosteosclerosis
Osteomesopyknosis
Osteopathia striata - cranial sclerosis
Osteopetrosis with infantile neuroaxonal dysplasia
Dysostosis stanescu type
Osteopetrosis lethal
Osteosclerosis abnormalities of nervous system and meninge
Dacryocystitis osteopoikilosis
Increased bone density group with metaphyseal and/or diaphyseal involvement
Craniometaphyseal dysplasia
Craniometaphyseal dysplasia, autosomal dominant, Jackson type
Craniometaphyseal dysplasia, autosomal recessive
Camurati engelmann disease
Oculodentoosseous dysplasia dominant
Oculodentoosseous dysplasia recessive
Paget disease juvenile type
Sclerosteosis
Hyperostosis corticalis generalisata
Tricho-dento-osseous syndrome
Diaphyseal medullary stenosis with bone malignancy
Craniodiaphyseal dysplasia
Craniotubular syndrome
Craniometadiaphyseal dysplasia, Wormian bone type
Cranio osteoarthropathy
Endosteal sclerosis with cerebellar hypoplasia
Lenz majewski hyperostotic dwarfism
Metaphyseal dysplasia, Braun-Tinschert type
Pachydermoperiostosis
Pyle disease
Diaphyseal dysplasi anaemia
Osteosclerosis - ichthyosis - premature ovarian failure
Dysplastic cortical hyperostosis
Decreased bone density group
Osteogenesis imperfecta
Osteoporosis pseudoglioma syndrome
Osteogenesis imperfecta congenital joint contractures
Singleton-Merten dysplasia
Geroderma osteodysplastica
Calvarial doughnut lesions with bone fragility
Idiopathic juvenile osteoporosis
Bone fragility, craniosynostosis, proptosis, hydrocephalus
Spondylo-ocular dysplasia
Osteogenesis imperfecta congenita microcephaly and cataracts
Osteogenesis imperfecta retinopathy
Grant syndrome
Kaler garrity stern syndrome
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis macrocephaly mental retardation blindness
Rothmund-Thomson syndrome
Poikiloderma atrophicans-cataract
Tibiae bowed radial anomalies osteopennia fractures
Defective mineralization group
Hypophosphatasia
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets
Hyperparathyroidism, neonatal severe, primary
Hypocalciuric hypercalcemia, familial, type 1
Eiken syndrome
Ossification anomalies - psychomotor development delay
Lysosomal storage disease with skeletal involvement (dysostosys multiplex group)
Mucopolysaccharidosis type 1
Hurler syndrome
Scheie syndrome
Hurler-Scheie syndrome
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3
Sanfilippo syndrome type A (Mucopolysaccharidose type 3A)
Sanfilippo syndrome type B (Mucopolysaccharidose type 3B)
Sanfilippo syndrome type C (Mucopolysaccharidose type 3C)
Sanfilippo syndrome type D (Mucopolysaccharidose type 3D)
Mucopolysaccharidosis type 4
Morquio disease, type A (Mucopolysaccharidosis type 4A)
Morquio disease, type B (Mucopolysaccharidosis type 4B)
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Fucosidosis
Alpha-mannosidosis
Beta-mannosidosis
Aspartylglucosaminuria
GM1 gangliosidosis
Gangliosidosis GM1 type 1
Gangliosidosis GM1 type 2
Gangliosidosis GM1 type 3
Sialidosis type 2
Sialidosis type 2, juvenile form
Sialidosis type 2, congenital form
Free sialic acid storage disease
Galactosialidosis
Mucosulfatidosis
Mucolipidosis type 2
Mucolipidosis type 3
Hyaluronidase deficiency
Osteolysis group
Familial expansile osteolysis
Hyalinosis systemic short stature
uvenile hyaline fibromatosis
Mandibuloacral dysplasia
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Progeria
Carpo tarsal osteolysis recessive
Winchester disease
Nodulosis-arthropathy – osteolysis
Acroosteolysis dominant type
Multicentric osteolysis nephropathy
Gorham-Stout disease
Talo-patello-scaphoid osteolysis
Epiphyseal stippling syndrome osteoclastic hyperplasia
Disorganized development of skeletal
Cherubism
McCune-Albright syndrome
Panostotic fibrous dysplasia
Fibromatosis multiple non ossifying
Ectopic ossification familial type
Gnathodiaphyseal dysplasia
Exostoses, multiple
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Exostoses, multiple, type 3
Osteoglophonic dwarfism
Carpo tarsal osteochondromatosis
Ramon syndrome
Dysplasia epiphysealis hemimelica
Enchondromatosis
Spondyloenchondrodysplasia
Fibrodysplasia ossificans progressiva
Genochondromatosis
Genochondromatosis type 2
Metachondromatosis
Fibrous dysplasia of bone
Monostotic fibrous dysplasia
Polyostotic fibrous dysplasia
Mazabraud syndrome
Hypertrichotic osteochondrodysplasia
Short stature brussels type
Upington disease
Bone dysplasia Azouz type
Exostoses anetodermia brachydactyly type e
Cleidocranial dysplasia group
Cleidocranial dysplasia
CDAGS syndrome
Yunis varon syndrome
Craniosynostosis syndromes and other cranial ossification disorders
Pfeiffer syndrome
Pfeiffer syndrome type 1 (classic Pfeiffer syndrome)
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Apert syndrome
Apert like, syndrome de - polydactylie
Cutis gyrata acanthosis nigricans craniosynostosis
Crouzon disease
Crouzon syndrome - acanthosis nigricans (crouzonodermoskeletal syndrome)
Jackson-Weiss syndrome
Muenke syndrome
Antley-Bixler syndrome
Craniofrontonasal dysplasia
Craniosynostosis, Warman type
Saethre-Chotzen syndrome
Blepharophimosis - ptosis - epicanthus inversus, type 3
Shprintzen-Goldberg syndrome
Craniosynostosis radial aplasia syndrome
Parietal foramina
Parietal foramina type 1
Parietal foramina type 2
Cranium bifidum, hereditary
Carpenter syndrome
Craniofrontonasal syndrome Teebi type
Cloverleaf skull syndrome
Cloverleaf skull - micromelic bone dysplasia
Thanatophoric dwarfism - cloverleaf skull
Cloverleaf skull - multiple congenital anomalies (MCA)
Craniofacial dyssynostosis
Oxycephaly
Lambdoid synostosis familial
C syndrome
Trigonocephaly
Pfeiffer-Singer-Zschiesche syndrome
Scaphocephaly
Summitt syndrome
Sakati-Nyhan syndrome
Goodman syndrome
Craniosynostosis - synostoses - hypertensive nephropathy
Craniosynostosis, Philadelphia type
Craniosynostosis fibular aplasia
Craniosynostosis brachydactyly
Herrmann opitz craniosynostosis
Craniosynostosis - cataract
Craniosynostosis - intracranial calcifications
Craniolenticulosutural dysplasia
Robinow-Sorauf syndrome
Craniomicromelic syndrome
Craniotelencephalic dysplasia
Aurocephalosyndactyly
Trigonocephaly short stature developmental delay
Trigonocephaly ptosis coloboma
Mental retardation, X-linked - plagiocephaly
Delayed membranous cranial ossification
Cranio fronto nasal dysplasia poland anomaly
Dysostoses with predominant craniofacial involvement
Treacher-Collins syndrome
Orofaciodigital syndrome, type1
Whelan, syndrome de
Oro-facio-digital, syndrome, type 7
Acrofacial dysostosis, Weyers type
Acrofacial dysostosis, Nager type
Acrocraniofacial dysostosis
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis, palagonia type
Frontonasal dysplasia
Goldenhar syndrome
Dysostosis acrofacial postaxial
Acro-fronto-facio-nasal dysostosis
Acrofacial dysostosis - ambiguous genitalia
Acrofacial dysostosis catania form
Frontofacionasal dysostosis
Frontonasal dysplasia acromelic
Osteodysplasia familial anderson type
Dysostoses with predominant vertebral and costal involvement
Currarino triad
Spondylocostal dysostosis autosomal recessive
Spondylocostal dysostosis autosomal recessive, type 1
Spondylocostal dysostosis autosomal recessive, type 2
Spondylocostal dysostosis autosomal dominant
Cerebro-costo-mandibular syndrome
Ischio-spinal dysostosis
Spondylocostal dysostosis autosomal recessive
Spondylocostal dysostosis autosomal recessive, type 1
Spondylocostal dysostosis autosomal recessive, type 2
Frontonasal dysplasia klippel feil syndrome
Melhem fahl syndrome
Skeletal dysplasia - intellectual deficit
Lumbar malsegmentation short stature
Ankylosing vertebral hyperostosis with tylosis
Dwarfism tall vertebrae
Klippel feil syndrome
Patellar dysostoses
Ischiopatellar dysplasia
Nail-patella syndrome
Genitopatellar syndrome
Ear patella short stature syndrome
Patella aplasia coxa vara tarsal synostosis
Patella aplasia coxa vara tarsal synostosis
Brachydactylies (with or without extraskeletal manifestations)
Brachydactyly
Brachydactyly type A1
Brachydactyly type A2 (Brachydactyly Mohr-Wriedt type)
Brachydactyly type A3 (Brachydactyly-clinodactyly)
Barachydactyly type A4 (Brachydactyly Temtamy type)
Brachydactyly type A5
Brachydactyly A6 (Osebold-Remondini syndrome)
Brachydactyly type A7 (Brachydactyly Smorgasbord type)
Brachydactyly type B
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E
Ballard syndrome (Brachydactyly types B et E combined)
Brachymesophalangy type 2
Brachymesophalangy 2 and 5
Oculo-digito-esophageal-duodenal syndrome (ODED)
Hand foot uterus syndrome
Keutel syndrome
Albright hereditary osteodystrophy
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Albright like syndrome
Rubinstein-Taybi syndrome
Deletion 16p13.3
Catel manzke syndrome
Brachydactyly preaxial hallux varus
Coffin-Siris syndrome
Mononen karnes senac syndrome
Poland anomaly
Brachydactyly long thumb type
Ulnar / fibula ray defect - brachydactyly
Brachytelephalangy characteristic facies kallmann syndrome
Prata liberal goncalves syndrome
Microcephaly - brachydactyly - kyphoscoliosis
Symbrachydactyly of hands and feet
Limb hypoplasia- reduction defects group
Acheiropodia
Cornelia de Lange syndrome
Fanconi anemia
Holt-Oram syndrome
Duane syndrome
Okihiro syndrome
Roberts syndrome
SC phocomélie
Tetraamelia - pulmonary hypoplasia
Schinzel syndrome
Ankyloblepharon - ectodermal defects - cleft lip palate
EEC syndrome
EEC syndrome, type 1
EEC syndrome, type 2
EEC syndrome, type 3
Limb-mammary syndrome
ADULT syndrome
Split hand - split foot
Ectrodactylie
Split hand - split foot - deafness
Adams oliver syndrome
Phocomelia Schinzel type
Femoral facial syndrome
Femur-fibula-ulna complex
Fibular hypoplasia femoral bowing oligodactyly
Aglossia adactylia
Pelvis shoulder dysplasia
Kosenow, syndrome de
Cousin-Walbraum-Cegarra, syndrome de
TAR syndrome
Ectrodactyly ectodermal dysplasia
Ectrodactyly cleft palate syndrome
Adactylia unilateral
Fibular aplasia ectrodactyly
Radial deficiency tibial hypoplasia
Ulnar hypoplasia lobster claw deformity of feet
Femur bifid monodactylous ectrodactyly
Congenital short femur
Split hand split foot nystagmus
Short stature dysmorphic face pelvic scapula dysplasia
Short stature monodactylous ectrodactyly cleft palate
Phocomelia contractures absent thumb
Phocomelia ectrodactyly deafness sinus arrhythmia
Lewis pashayan syndrome
Faciocardiomelic dysplasia lethal
Aphalangy with hemivertebrae
Fibula aplasia - complex brachydactyly
Tibia absent polydactyly arachnoid cyst
Tibial aplasia ectrodactyly
Humerus trochlea aplasia of
RAPADILINO syndrome
Thumb absence hypoplastic halluces
Tetraamelia - multiple malformations
Hemimelia
Ulnar clubhand
Radial clubhand
Ulnar hemimelia
Radial hemimelia
Tibial hemimelia
Fibular hemimelia
Polydactyly-Syndactyly-Triphalangism group
Acrocallosal syndrome, Schinzel type
Acro-pectoral syndrome
Acropectorovertebral dysplasia
Fibular dimelia - diplopodia
Greig syndrome
Laurin sandrow syndrome
Pallister-Hall syndrome
Polydactyly postaxial
Polydactyly postaxial type A
Polydactyly postaxial type B
Polydactyly preaxial
Polydactyly of the thumb (PPD1)
Polydactyly of a triphalangeal thumb (PPD2)
Polydactyly of an index finger (PPD3)
Polysyndactyly (PPD4)
Syndactyly
Synpolydactyly
Syndactyly type 1
Syndactyly type 2
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Polysyndactyly, Haas type
Syndactyly between fingers 4 and 5
Brachydactyly-syndactyly, Zhao type
Townes-Brocks syndrome
Hallux varus and preaxial polysyndactyly
Metacarpals 4 and 5 fusion
Monodactyly tetramelic
Oligodactyly tetramelic postaxial
Triphalangeal thumbs brachyectrodactyly
Mirror polydactyly segmentation and limbs defects
Hypoplastic tibiae post axial polydactyly
Preaxial deficiency postaxial polydactyly hypospadias
Syndactyly Cenani-Lenz type
Triphalangeal thumb polysyndactyly syndrome
Familial opposable triphalangeal thumbs duplication of the
Smith-Lemli-Opitz syndrome
Oliver syndrome
Triphalangeal thumbs dislocation of patella
Defects in joint formation and synostosis group
Synostoses, multiple - brachydactyly
Deafness - symphalangism syndrome Hermann type
WL syndrome
Symphalangisme - brachydactylie
Symphalangism, proximal
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Multiple synostosis syndrome
Synostosis of talus and calcaneus short stature
Radio-ulnar synostosis
Banki syndrome
Symphalangism with multiple anomalies of hands and feet
Symphalangism distal
Humeroradial synostosis
Synostosis microcephaly scoliosis
Radioulnar synostosis mental retardation hypotonia
Dwarfism syndesmodysplasic
Leri pleonosteosis
Overgrowth syndromes
Beckwith-Wiedemann syndrome
Hemihypertrophy
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome, type 2
Perlman syndrome
Sotos syndrome
Weaver syndrome
Bannayan-Riley-Ruvalcaba syndrome
Ryley-Smith, syndrome de
Ruvalcaba-Myhre-Smith, syndrome de
Proteus syndrome
Angio-osteohypertrophic syndrome
Klippel-Trenaunay syndrome
Parkes-Weber syndrome
Sturge-Weber syndrome
Enchondromatosis
Neurofibromatosis type 1
Neurofibromatosis, familial spinal
Neurofibromatosis, familial segmental
Neurofibromatosis type 2
Fragile X syndrome
Fragile X tremor / ataxia syndrome (FXTAS)
Overgrowth-craniosynostosis-arthrogryposis
Chromosomal disorders with Overgrowth
Duplication 4p
Duplication 5p
Duplication 12p
Tetrasomy 12p
Duplication 15q
Duplication 22
Other overgrowth syndromes
Costello syndrome
Macrocephaly - Cutis Marmorata Telangiectatica Congenita
Hypertrichotic osteochondrodysplasia
Nevo syndrome
Elejalde syndrome
Overgrowth due to maternal and endocrine effects
Diabetic embryopathy
Persistent hyperinsulinemic hypoglycemia of infancy
Hyperinsulinism due to focal adenomatous hyperplasia
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism, diffuse (Nesidioblastosis of pancreas)
Hyperinsulinism, severe, due to Kir6 mutations
Hyperinsulinism, severe, due to SUR1 mutations
Pancreatic adenoma
Other lethal chondrodysplasias
Lethal chondrodysplasia moerman type
Lethal chondrodysplasia seller type
Pyknoachondrogenesis
Chondrodysplasia lethal recessive
Limb-girdl bone anomalies
Condensing osteitis of the medial clavicle
Pseudoarthrosis of clavicle, congenital
Pelvic dysplasia arthrogryposis of lower limbs
Shoulder and thorax deformity congenital heart disease
Sprengel deformity
Bone dysplasia corpus callosum agenesis
Harmonic mesomelias
Dysharmonic mesomelias
Miscellaneous metabolic diseases with bone involvement
Miscellaneous malformative syndromes with bone involvement
