Disorders
of transmembrane receptors |
Achondroplasia (see
text and Fig. 179-2) |
Thanatophoric dysplasia type I* | Macrocephaly, rhizomatic shortening | Marked platyspondyly, short ilia, bowed femur with broad
metaphyses | AD (187600) | 4p16/FGFR3 |
Thanatophoric dysplasia type II* | Macrocephaly, cloverleaf skull anomaly | Platyspondyly, straight femur | AD (187610) | 4p16/FGFR3 |
Hypochondroplasia | Mild rhizomatic shortening, macrocephaly | Short pedicles of vertebra; short/broad ilia | AD (146000) | 4p16/FGFR3 |
Disorders
of cartilage matrix proteins and collagen |
Osteogenesis imperfecta
(see text) |
Kniest dysphasia | Flat nose, midfacial hypoplasia, short stature, prominent
joints | Broad metaphyses of femur, coronal clefts of spine | AD (156556) | 12q13/COL2A1 |
Achondrogenesis type II* | Flat nose, very short limbs, hydrops | Short tubular bones, defecit/absent ossification
of vertebrae | AD (200610) | 12q13/COL2A1 |
Spondylocpiphyseal dysplasia congenital | Myopia, hearing loss, eventually short trunk | Flat vertebrae, odontoid hypoplasia, scoliosis | AD (183900) | 12q13/COL2A1 |
Hypochondrogenesis* | Flat nose, very short limbs | Relatively normal long bones; vertebral hypoplasia | AD (120140) | 12q13/COL2A1 |
Schmid metaphyseal dysplasia | Mild disproportionate short stature; tibial bowing | Metaphyseal broadening | AD (156500) | 12q13/COL2A1 |
Pseudoachondroplasia | Long trunk, short limbs, leg joints | Platyspondyly, tongue-like projections anteriorly, epiphyseal
dysplasia | AD (177170) | 19p12/COMP |
Multiple epiphyseal dysplasia | Mildly short limbs | Multiple epiphyseal changes, normal spine | AD (600969) (locus heterogeneity) | 19p12/COMP |
1p32/COL9A2 |
Disorders
of transmembrane sulfate transporter |
Diastrophic dysplasia | Cleft palate, laryngeal abnormalities, transient swellings
of ears | Short long bones, scoliosis, broad metaphyses | AR (222600) | 5q32/sulfate transporter |
Atelosteogenesis type II* | Flat nose, very short limbs, ± cleft palate | Short humeri; fibular hypoplasia | AR (256050) | 5q32/sulfate transporter |
Achondrogenesis type I* | Flat nose, very short limbs, hydrops | Short tibular bones, poor ossification of vertebrae | AR (600972) | 5q32/sulfate transporter |
Disorders
of DNA transcription factors |
Campomelic dysplasia* | Macrocephaly, flat nose, cleft palate, clubfeet, dimples
over tibia | Short bowed femur and tibia; narrowed ilia; hypoplastic scapulae | AD (114290) | 17q24/SOX9 |
Disorders
of bone density |
Hypophosphatasia, congenital form* | Soft skull, short limbs | Very short underossified long bones with spikes; low alkaline
phosphatase | AR (241500) | 1p36/alkaline phosphatase |
Disorders
of unknown pathway |
Ellis-van Creveld syndrome | Sparse hair, natal teeth, postaxial polydactyly, long/thin
chest; geno valgus | Short/broad ilia | AR (225500) | 4p/EVC112 |
Jeune dysplasia | Relatively normal face | Short ribs, short/broad ilia | AR (208500) | 3q/IFT80 |
Short rib/polydactyly type I* | Flat nose, postaxial polydactyly | Metaphyseal spurs; short/horizontal ribs, small
ilia | AR (263530) | – |
Short rib/polydactyly type II* | Flat nose, postaxial polydactyly | Short/horizontal ribs; oval-shaped tibiae | AR (263520) | – |
Spondylometaphyseal dysplasia | Short trunk, tibial bowing | Platyspondyly, broad metaphyses | AD (184252) | – |