Campomelic dysplasia

Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood. [Source: Wikipedia ]

OrphaNet reference
Campomelic dysplasia 
Acampomelic campomelic dysplasia
May Cause
Abnormal fibula
Abnormal odontoid process
Abnormal scapula
Absent fibula
Antegonial notching of the mandible
Atlantoaxial instability
Bowed bones
Bowed femur
Bowed tubular bones
Broad middle phalanges
Calcaneal spur
Cervical kyphosis
Cleft lip/palate
Clinodactyly of fifth finger
Congenital atlantoaxial subluxation or instability
Congenital elbow anomaly
Congenital heart disease
Congenital joint subluxation
Congenital macrocephaly
Congenital midface hypoplasia
Congenital short limbs
Congenital tracheal stenosis x
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Decreased number of ribs
Defective pubic ossification
Delayed ossification of the pubic bone
Depressed nasal bridge
Elbow dislocation
Eleven pairs of ribs
External ear malformation
Facial hypoplasia
Genu varum
Handlebar clavicle
Hip dislocation
Hip subluxation
Hooked clavicle
Hypoplastic fibula
Hypoplastic pelvis
Increased nuchal fold
Inner ear anomaly
Lethal skeletal dysplasia
Low-set ears
Mesomelic dwarfism
Metatarsus adductus
Middle ear anomaly
Multiple fractures
Narrow pelvis in an infant or child
Narrow spinal canal
Nuchal cystic hygroma
Odontoid aplasia
Odontoid hypoplasia
Periosteal new bone formation in a child
Prominent occiput
Pubic bone nonossification
Retarded skeletal maturation
Ribbon-like ribs
Short fibula
Short middle phalanges
Short narrow thoracic cage
Short ribs
Short squat bones
Skin dimple
Small or dysplastic carpal and/or tarsal bones
Thin ribs
Thoracic dysplasia
Undersegmentation of sternum
Wavy ribs