Signs / Symptoms (18)

Craniofacial
Flat midface
Macrocephaly  Show images    https://www.datagenno.com/utils/files/images/841/normalhttps://www.datagenno.com/utils/files/images/1166/normalhttps://www.datagenno.com/utils/files/images/840/normalhttps://www.datagenno.com/utils/files/images/1273/normal

Growth
Dwarfism, micromelic

Intrauterine development
Polyhydramnios
Stillborn or lethal in the neonatal period

Limbs Abnormality
Brachydactyly  Show images    https://www.datagenno.com/utils/files/images/794/normalhttps://www.datagenno.com/utils/files/images/220/normalhttps://www.datagenno.com/utils/files/images/1326/normalhttps://www.datagenno.com/utils/files/images/244/normal
Precociously ossified carpal bones

Oral
Cleft palate  Show images    https://www.datagenno.com/utils/files/images/1019/normalhttps://www.datagenno.com/utils/files/images/1018/normal

Skeletal
Dumbbell-shaped short long bones
Flat acetabular roofs
Hypoplastic scapulae
Metaphyseal irregularities
Narrow chest
Round vertebral bodies
Sacral stenosis
Short neck
Short, splayed ribs
Snail-shaped ilia