疾患詳細

疾患詳細





N0551
Osteochondrodysplasias characterized by a combination of spondylic and/or metaphyseal and/or epiphyseal dysplasia

脊椎+/-骨幹端+/-骨端異型性の組合せが特長の骨軟骨異形成

Pattern Chromosomal Spondylic
Entity McKusick no. of inheritance locaiization dysplasia MD ED Other major nonskeletal features
SED congenita 183900 AD 12q131 ++ + ++ Myopia, cleft palate
SED tarda, X-linked (14,45,69) 313400 XL Xp22.1 ++ +
SED tarda (7,25,81) 184100 AD 12q131 + +
SED tarda, Toledo type (brachyolmia) (38,87) 271630 AR + +
SED, Mseleni type (1, 103) AR? ++ ++
Kniest dysplasia 156550 AD 12q131 + + + Myopia, cleft palate, hearing loss
Stickler syndrome, type I 108300 AD 12q131 + + Myopia, cleft palate
Stickler syndrome, type II 184840 AD 1p21 + + Cleft paiate, hearing loss
SED, Maroteaux type (26) 184095 AD + +
SED with craniosynostosis 602611 AR + + Mental retardation, cleft palate, cataract, craniosynostosis
SED with mentai retardation (52) 271620 AR + + Mental retardation
SED tarda with mental retardation (48) 600093 AR + + Mental retardation, microcephaly, dysmorphic face
SED with atlanto-occipital instability (83) 600561 AD + + Cervical instability
SED with punctate comeal dystrophy (19) 183850 AD?/XL? + + Disorganized dermal collagen fibrils
SED with brachydactyly (84) 120140 AD 12q13.1 + + Short hands and feet
SEMD, Irapa type (9,44) 271650 AR + + + Arthrosis
SED, Namaqualand type (13) 120140 AD 12q13.1 + + Normal height, iliac exostoses
Progressive pseudorheumatoid dysplasia (30,31) 208230 AR 6q16 ++ + Rheumatoid arthritis
Dyggve-Melchior-Clausen syndrome 223800 AR ++ (+) + Mental retardation
Wolcott-Rallison syndrome (3,94,96) 226980 AR 15q11? + + Infantile diabetes mellitus
Immuno-osseous dysplasia, Schimke type (64) 242900 AR + + Lymphopenia, nephrotic syndrome
SEMD, Strudwick type (6,24,25 ,53,91, 100) 184250 AD 12q131 ++ + +
SEMD, type II (79) 602111 AD + ++ +
SEMD, X-linked (21) 300106 XL ++ + +
SEMD with joint laxity 271640 AR + + + Joint dislocations
SEMD with short limbs and abnormal calcification (4, 16,58) 271665 AR + + + Mental retardation, calcifications
SEMD with brachydactyly and scoliosis (2,32) 603262 AR 10q23 + + + Normal intelligence, domed skull
SEMD, Shohat type (33,88) AR + ++ + Dysmorphic face
SEMD with hypotrichosis (62, 104) l 83849 AD + + + Congenitai hypotrichosis, positive sweat test
SEMD, micromelic type" (34,54,71, 102) 601096 AR? + + ++ Callosal body agenesis
SEMD with abnormal dentition (82) 601668 AR + + + Oligodontia, pointed incisors, thin fingers
Sponastrime dysplasia (59) 271510 AR ++ + Hypoplastic midface
Opsismodys plasia 258480 AR + ++ Hypotonia, dysmorphic facies
SMD with dentinogenesis imperfecta (15) l 84260 AD ? 12q13.1? + + + Dentinogenesis imperfecta
SMD, X-linked (37) 313420 XL + +
SMD, Kozlowski type (39a,57,77) 184252 AD + +
SMD, Sutcliffe type (57) 185255 AD + ++ +
SMD, Schmidt type (includes Algerian type) (86) 184253 AD + ++ Myopia
SMD, Japanese type (42a) AD + +
SMD, Sedaghatian type (80) 250220 AR + + + Cardiac arrhythmia, renal cortical necrosis
SMD, type A4 (27) AR? + ++
SMD with osteolysis (78) 603389 ? + + Osteolysis, distal phalanges, painful joints
Spondylocostalmetaphyseal dysplasia (36) ? + + Craniosysnostosis, hydrocephaly, renal cysts
ASPED (35) 105835 AD ++ Hypermobile fingers, hypodontia
MED, Fairbank type (17, 18, 24) 132400 AD 19p12 (+) +
MED, Ribbing type (11,24) 600204 AD 19p12 +
MED, type II (24,73,101) 600969 AD 1p32.3 +
MED with myopia and conductive hearing loss (12) 1 32450 AD + ++ Cataract, myopia, hearing loss
MED with schisis and rhizomelia (63) 601560 ? (+) + Cleft palate, micrognathia, rhizomelia
MED with radiai ray hypoplasia (29) ? + Radial ray hypoplasia
MED with macrocephaly and dysmorphic face (5) AR + Frontal lobe atrophy, lymphedema
Pseudoachondroplasia (17,28,43 ,47,50,70) 177170 AD 19p12 + + +
Hip dysplasia, Beukes type (22) 142669 AD +
CODAS (20) 600373 ? + + Cataract, hearing loss, dental anomalies

(文献)
[Spondylo(meta)(epiphyseal) dysplasias]
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2011/02/24