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Thanatophoric dysplasia
Synonyms
Thanatophoric dwarfism
OrphaNet reference
Thanatophoric dysplasia
Subtypes
Thanatophoric dysplasia San Diego type
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
May Cause
Acromelic dwarfism
Anorectal anomaly
Bowed bones
Bowed femur
Bowed tubular bones
Brachydactyly
Broad tubular bones
Chest malformation
Cloverleaf skull deformity
Congenital hydrocephalus
Congenital macrocephaly
Congenital midface hypoplasia
Congenital narrow spinal canal
Congenital premature craniosynostosis
Congenital short hands and feet
Congenital short limbs
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Craniosynostosis
Cuboid vertebrae
Depressed nasal bridge
Fetal skin thickening
Flaring of ribs
Frontal bossing
Genu varum
Humerus-radius-ulna synostosis
Hydrocephalus
Hydrops fetalis
Hypoplastic pelvis
Lethal skeletal dysplasia
Macrocephaly
Metaphyseal cupping
Multiple calcaneal ossification centers
Narrow spinal canal
Neuronal migration disorder
Platyspondyly
Polyhydramnios
Radioulnar synostosis
Retarded skeletal maturation
Rhizomelic dwarfism
Short metacarpal
Short metatarsal
Short metatarsals
Short narrow thoracic cage
Short ribs
Short squat bones
Skull base hypoplasia
Small acetabular angle
Small foramen magnum
Small sciatic notch
Symmetrical anterior rib flaring
Thoracic dysplasia
Trident pelvis
Type A pelvis
Wide metaphysis