Prenatal findings
• intra-uterine growth retardation
• short limbs
• short tubular bones
• equinovarus clubfeet
• other feet malposition
Post-natal growth
• low birth length
• short stature
• short limbs
• growth hormone deficiency
• growth hormone treatment
Craniofacial features
• broad forehead
• widow’s peak or fontal upswift
• hypertelorism
• broad eyebrows
• sparse eyebrows
• down-slanting palpebral fissures
• ptosis
• broad nasal bridge
• short nose
• anteverted nares
• flat face
• wide philtrum
• long philtrum
• thin upper lip
• wavy mouth when smiling
• everted lower lip
• linear dimple below the lower lip
• low-set posteriorly rotated ears
• small ears
• thick rectangular antitragus
Limb and skeletal anomalies
• short hands
• broad hands
• brachydactylies
• camptodactylies
• cutaneous syndactylies
• single palmar creases
• single flexion crease of the 5th fingers
• swan neck deformity of the fingers
• broad proximal interphalangeal joints of the hands
• short feet
• broad feet
• short toes
• bulbous tip of the feet
• metatarsus varus
• equinovarus club feet
• other feet malposition
• brachymelia
• short and large neck
• pectus excavatum
• scoliosis
• joint hyperlaxity
• osteochondritis
Other morphological features
• shawl scrotum
• umbilicus abnormalities
Congenital malformations
• cryptorchidism
• micropenis
• hypospadias
• inguinal hernia
• heart defect
• aortic dilatation
• cleft lip/palate
• anal anomalies (anus imperforate, anal stenosis or anterior placement)
• brain malformation
• cerebral vascular dysplasia
Other medical problems
• dental anomalies
• hyperopia
• strabismus
• astigmatism
Neurological features – neurodevelopment disorders
• neonatal hypotonia
• childhood hypotonia
• delayed motors skills
• delayed language
• learning difficulties
• special needs education
• ADHD
• specific learning disorders (dyslexia, dysgraphia, dyscalculia …
• intellectual disability
• myopathic features (muscle pain, exercise intolerance)
Radiological features
• short metacarpals
• short distal phalanges
• brachymesophalangia of the 5th fingers
• broad 1rst metacarpals
• broad and short 5th metacarpals
• cone-shaped epiphyses
• short metatarsals
• broad 1rst metatarsals
• short and broad femoral necks
• small femoral epiphyses
• coxa valga
• broad inner parts of the clavicles
• short long bones
• delayed bone age
• enlarged metaphyses
• narrow vertebral canal
• vertebral anomalies
• cervical spine anomalies