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