GAMUT D-1
INTERNAL NOSOLOGY AND CLASSIFICATION OF CONSTITUTIONAL DISORDERS OF BONE (2001)



tr>

Osteochondrodysplasia
Mode of
Inheritance*

      1. Achondroplasia group

Thanatophoric dysplasia, Type I (includes San Diego Type)       AD
Thanatophoric dysplasia, Type II AD
Achondroplasia AD
Hypochondroplasia AD
SADDAN (severe achondroplasia,
developmental delay, acanthosis nigricans)
AD

      2. Severe Spondylodysplastic dysplasias

Lethal platyspondylic skeletal dysplasias
(Torrance Type, Luton Type)
SP
Achondrogenesis Type 1A AR
Opsismodysplasia AR
SMD Sedaghatian Type AR

      3. Metatropic dysplasia group

Fibrochondrogenesis AR
Schneckenbecken dysplasia AR
Metatropic dysplasia (verious forms) AD

      4. Short-rib dysplasia (SRP) (with or without polydactyly) group

SRP type I/III (Saldino-Noonan/Verma-Naumoff) AR
SRP type II (Majewski) AR
SRP type IV (Beemer) AR
Asphyxiating thoracic dysplasia (Jeune) AR
Chondroectodermal Dysplasia (Ellis-van Creveld dysplasia) AR
Thoracolaryngopelvic dysplasia (Barnes) AD

      5. Atelosteogenesis-Omodysplasia group

Atelosteogenesis type I (includes "Boomerang dysplasia") SP
Omodysplasia I (Maroteaux) AD
Omodysplasia II (Borochowitz) AR
Atelosteogenesis Type III AD
de la Chapelle dysplasia AR

      6. Diastrophic dysplasia group

Achondrogenesis 1B AR
Diastrophic dysplasia AR
MED Autosomal Recessive Type AR

      7. Dyssegmental dysplasia group

Dyssegmental dysplasia, Silverman-Handmaker Type AR
Dyssegmental dysplasia, Rolland-Desbuquois Type AR

      8. Type II collagenopathies

Achondrogenesis II (Langer-Saldino) AD
Hypochondrogenesis AD
Spondyloepiphyseal dysplasia (SED) congenita AD
Spondyloepimetaphyseal dysplasia (SEMD) Studwick Type AD
Kniest dysplasia AD
SED Namaqualand Type AD
Spondyloperipheral dysplasia AD
Mild SED with premature onset arthrosis AD
Stickler dysplasia Type I AD

      9. Type XI collagenopathies

Stickler dysplasia Type II AD
Stickler dysplasia Type III AD
Marshall syndrome AD
Otospondylomegaepiphyseal dysplasia (OSMED) AR
Otospondylomegaepiphyseal dysplasia (OSMED) AD

      10. Other spondyloepi-(meta)-physeal [SE(M)D] dysplasias

X-linked SED tarda XLD
SEMD Handigodu Type AD?
Progressive pseudorheumatoid dysplasia AR
Dyggve-Melchior-Clausen dysplasia AR
Wolcott-Rallison dysplasia AR
Immuno-osseous dysplasia (Schimke) AR
Schwartz-Jampel syndrome AR
SEMD with joint laxity (SEMDJL) AR
SEMD with multiple dislocations (Hall) (leptodactylic Type)
SPONASTRIME dysplasia AR
SEMD short limb - abnormal calcification Type AR
SEMD Pakistani Type AR
Anauxetic dysplasia AR

      11. Multiple epiphyseal dysplasias & pseudoachondroplasia

Pseudoachondroplasia AD
Multiple epiphyseal dysplasia (MED) AD
(Fairbanks and Ribbing Types) AD

      12. Chondrodysplasia punctata (CPD) (stippled epiphyses group)

Rhizomelic CDP Type 1 AR
Rhizomelic CDP Type 2 AR
Rhizomelic CDP Type 3 AR
CDP Conradi-Hunermann Type XLD
CDP X-linked recessive Type (brachytelephalangic) XLR
CDP Tibia-metacarpal Type AD
CHILD (limb-reduction-icthyosis) XLD
CHILD (limb-reduction-icthyosis) XLD
Hydrops-ectopic calcification-moth-eaten appearance HEM
(Greenberg dysplasia)
AR
Dappled diaphyseal dysplasia AR

      13. Metaphyseal dysplasias

Jansen Type AD
Schmid Type AD
Cartilage-Hair-Hypoplasia (McKusick) AR
Metaphyseal anadysplasia (various types) AD/XLD
Metaphyseal dysplasia with pancreatic insufficiency and
cyclic neutropenia (Shwachmann Diamond)
AR
Adenosine deaminase (ADA) deficiency AR
Metaphyseal chondrodysplasia Spahr Type AR
Acroscyphodysplasia (various types) AR

      14. Spondylometaphyseal dysplasias (SMD)

Spondylometaphyseal dysplasia Kozlowski Type AD
Spondylometaphyseal dysplasia (Sutcliffe/corner fracture Type) AD
SMD with severe genu valgum (includes Schmidt and Algerian Types) AD

      15. Brachyolmia spondylodysplasias

Hobaek (includes Toledo Type) AR
Maroteaux Type AR
Autosomal dominant Type AD

      16. Mesomelic dysplasias

Dyschondrosteosis (Leri-Weill) AD
Langer type (homozygous dyschondrosteosis) AR
Nievergelt Type AD
Kozlowski-Reardon Type AR
Reinhardt-Pfeiffer Type AD
Werner type AD
Robinow Type, dominant AD
Robinow Type, recessive AR
Mesomelic dysplasia with synostoses AD
Mesomelic dysplasia Kantaputra Type AD
Mesomelic dysplasia Verloes Type AD
Mesomelic dysplasia Savarirayan Type

      17. Acromelic dysplasias

Acromicric dysplasia AD
Geleophysic dysplasia AR
Myhre dysplasia
Weill-Marchesani dysplasia AR
Trichorhinophalangeal dysplasia Types I/III AD
Trichorhinophalangeal dysplasia Types II (Langer-Giedion) AD
Brachydactyly Type A1 AD
Brachydactyly Type A2 AD
Brachydactyly Type A3
Brachydactyly Type B AD
Brachydactyly Type C AD
Brachydactyly Type D AD
Brachydactyly Type E AD
Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy) AD
Acrodysostosis SP(AD)
Saldino-Mainzer dysplasia AR
Brachydactyly-hypertension dysplasia (Bilginturan) AD
Craniofacial condodysplasia AD
Angel-shaped phalango-epiphyseal dysplasia (ADPED) AD
Camptodactyly arthropathy coxa vara pericarditis (CACP) AR
Christian Brachydactyly AD

      18. Acromesomelic dysplasias

Acromesomelic dysplasia Type Maroteaux AR
Acromesomelic dysplasia Type Campailla-Martinelli AR
Acromesomelic dysplasia Type Ferraz/Ohba AD
Acromesomelic dysplasia Type Osebold Remondini AD
Grebe dysplasia AR
Cranioectodermal dysplasia AR

      19. Dysplasias with predominant membranous bone involvement

Cleidocranial dysplasia AD
Yunis-Varon dysplasia AR
Parietal foramina (isolated) AD

      20. Bent-bone dysplasia group

Campomelic dysplasia AD
Cumming syndrome AR
Stuve-Wiedermann dysplasia (neonatal Schwartz-Jampel) AR

      21. Multiple dislocations with dysplasias

Larsen syndrome AD
Larsen-like syndromes (including La Reunion Island) AR
Desbuquois dysplasia AR
Pseudodiastrophic dysplasia AR

      22. Dysostosis multiplex group

Mucopolysaccharidosis IH AR
Mucopolysaccharidosis IS AR
Mucopolysaccharidosis II XLR
Mucopolysaccharidosis IIIA AR
Mucopolysaccharidosis IIIB AR
Mucopolysaccharidosis IIIC AR
Mucopolysaccharidosis IIID AR
Mucopolysaccharidosis IVA AR
Mucopolysaccharidosis IVB AR
Mucopolysaccharidosis VI AR
Mucopolysaccharidosis VII AR
Fucosidosis AR
a-Mannosidosis AR
b-Mannosidosis AR
Aspartylglucosaminuria AR
GM1 Gangliosidosis, several forms AR
Sialidosis, several forms AR
Sialic acid storage disease AR
Galactosialidosis, several forms AR
Multiple sulfatase deficiency AR
Mucolipidosis II AR
Mucolipidosis III AR

      23. Low birthweight slender bone group

Type I microcephalic osteodysplastic dysplasia AR
Type II microcephalic osteodysplastic dysplasia AR
Microcephalic osteodysplastic dysplasia (Saul Wilson) AR
3M syndrome AR

      24. Dysplasias with decreased bone density

Osteogenesis imperfecta I (normal teeth) AD
Osteogenesis imperfecta I (opalescent) AD
Osteogenesis imperfecta II AD
Osteogenesis imperfecta III AD
Osteogenesis imperfecta IV (normal teeth) AD
Osteogenesis imperfecta IV (opalescent)) AD
Osteogenesis imperfecta V
Osteogenesis imperfecta VI
Cole-Carpenter dysplasia SP
Bruck dysplasia I AR
Bruck dysplasia II
Singleton-Merton dysplasia AR
Osteopenia with radiolucent lesions of the mandible AD
Osteoporosis-pseudoglioma dysplasia AR
Geroderma osteodysplasticum AR
Idiopathic juvenile osteoporosis SP

      25. Dysplasias with defective mineralization

Hypophosphatasia-perinatal lethal and infantile forms AR
Hypophosphatasia adult form AD
Hypophosphatemic rickets XLD
Neonatal hyperparathyroidism AD
Transient neonatal hyperparathyroidism with hypocaciuric hypercalcemia AD

      26. Increased bone density without modification of bone shape

Osteopetrosis
      Infantile form (OPB) AR
      With infantile neuroaxonal dysplasia AR?
      Delayed form Type I (OPA1) AD
      Delayed form Type II (OPA2) AD
            Intermediate form (possibly heterogeneous) AR
            With ectodermal dysplasia and immune defect (OLEDAID) XL
Dysosteosclerosis AR
Osteomesopyknosis AD
Cranial osteosclerosis with bamboo hair (Netherton) AR
Pyknodysostosis AR
Osteosclerosis Stamescu Type AD
Osteopathia striata (isolated) SP
Osteopathia striata with cranial sclerosis AD/XLD?
Melorheostosis SP
Osteopoikilosis AD
Mixed sclerosing bone dysplasia SP

      27. Increased bone density with diaphyseal involvement

Diaphyseal dysplasia Camurati Engelmann AD
Diaphyseal dysplasia with anemia (Ghosal) AR
Craniodiaphyseal dysplasia ?AR
Lenz Majewski dysplasia
Endosteal hyperostosis
      van Buchem Type AR
      Sclerosteosis AR
      Worth Type AD
      Sclero-osteo-cerebellar dysplasia AR
Kenny Caffey dysplasia Type I AR
Kenny Caffey dysplasia Type II AD
Osteoectasia with hyperphosphatasia (Juvenile Paget disease) AR
Diaphyseal medullary stenosis with bone malignancy AD
Oculodentoosseous dysplasia AR
Trichodentooseous dysplasia AD

      28. Increased bone density with metaphyseal involvement

Pyle dysplasia AR
Craniometaphyseal dysplasia
      Severe Type AR
      Mild Type AD

      29. Craniotubular digital dysplasias

Frontometaphyseal dysplasia XLR
Osteodysplasty, Melnick-Needles XLD
Precocious osteodysplasty (terHaar dysplasia) AR
Otopalatodigital syndrome Type I XLD
Otopalatodigital syndrome Type II XLR

      30. Neonatal severe osteosclerotic dysplasias

Blomstrand dysplasia AR
Raine dysplasia AR
Caffey disease with prenatal onset AD
Astley-Kendall dysplasia AR

      31. Disorganized development of cartilaginous and fibrous components of the skeleton

Dysplasia epiphysealis hemimelica SP
Multiple cartilaginous exostoses AD
Enchondromatosis (Ollier) SP
Enchondromatosis with hemangiomata (Maffucci) SP
Spondyloenchondromatosis AR
Spondyloenchondromatosis with basal ganglia calcification AR
Dysspondyloenchondromatosis
Metachondromatosis AD
Osteoglophonic dysplasia AD
Genochondromatosis AD
Carpotarsal osteochondromatosis AD
Fibrous dysplasia (McCune-Albright and others) SP
Jaffe Campanacci Type SP
Fibrodysplasia ossificans progressiva AD
Cherubism AD
Cherubism with gingival fibromatosis AR

      32. Osteolyses

Multicentric - hands and feet
Multicentric carpal-tarsal osteolysis with and without nephropathy AD
Winchester syndrome AR
Torg syndrome AR

Distal phalanges
Hadju-Cheney syndrome AD
Mandibuloacral syndrome AR

Diaphyses and metaphyses
Familial expansile osteolysis AD
Juvenile hyaline fibromatosis (includes systemic juvenile hyalinosis) AR

      33. Patella dysplasias

Nail patella dysplasia AD
Patella hypoplasia/aplasia AD
Ischiopubic patellar dysplasia AD
Genitopatellar syndrome AR?
Ear patella short stature syndrome (Meier Gorlin) AR

Localised Skeletal Malformations (Dysostoses)

      A. Localized disorders with predominant cranial and facial involvement

Apert syndrome AD
Pfeiffer syndrome AD
Crouzon syndrome AD
Craniosynostosis (Crouzon-like) with Acanthosis Nigricans AD
Jackson-Weiss syndrome AD
Saethre-Chotzen syndrome AD
Craniosynostosis Muenke Type AD
Craniosynostosis Boston Type AD
Craniosynostosis Adelaide Type AD
Craniosynostosis with polydactyly (Carpenter) AR
Antley-Bixler syndrome AD
Craniosynostosis with cutis gyrata (Beare-Stevenson) AD
Oral-facial-digital syndrome Type I XLR
Cephalo-polysyndactyly (Greig) AD
Craniofrontonasal dysplasia XLD
Mandibulo-facial dysostosis (Treacher-Collins) AD

      B. Localized disorders with predominant axial involvement

Spondylocostal dysplasia AD
Spondylocostal dysplasia AR
COVESDEM (COsto VErtebral Segmentation DEfect with Mesomelia and peculiar face) AR
Oculo-vertebral syndrome (Weyer) AD

      C. Localized disorders with predominant involvement of the extremities

Isolated SHFM3 AD
Isolated SHFM4 AD
Syndromic SHGM1 with deafness and MR AD
Isolated SHFM2 XL
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome AD
Symphalangism - proximal AD
Rubinstein-Taybi syndrome ?AD
Coffin-Siris syndrome AR
Fanconi syndrome Group A AR
Fanconi syndrome Group C AR
Fanconi syndrome Group D AR
Fanconi syndrome Group E AR
Fanconi syndrome Group F AR
Fanconi syndrome Group G AR
Multiple synostoses AD
Hand foot genital syndrome AD


* AD autosomal dominant. AR autosomal recessive. SP sporadic. XLD X-linked dominant. XLR X-linked recessive