Growth: short stature of prenatal onset, possibly caused by growth hormone (GH) deficiency in a few cases.
Recognizable craniofacial features
• broad forehead
• widow’s peak (V-shaped point in the hairline in the center of the forehead) or fontal cowlick
• widely-set eyes
• broad and sparse eyebrows
• ptosis (drooping upper eyelid)
• short nose with broad nasal bridge and anteverted nostrils
• long philtrum (part of the face extending from the nasal septum to the upper lip)
• thin upper lip
• everted lower lip and linear dimple below the lower lip
• small, low-set posteriorly rotated ears with a thick lobule
Limb and skeletal anomalies
• short limbs
• short and broad hands and feet with short fingers and toes
• camptodactylies (fixed flexion deformity of interphalangeal joint)
• cutaneous syndactylies (interdigital webbings)
• single palmar creases
• single flexion crease of the 5th fingers
• swan neck deformity of the fingers (joints of the fingers bend different ways, forming an “S” shape)
• feet malposition
• pectus excavatum (breastbone sunken into the chest)
• scoliosis
• joint hyperlaxity
• osteochondritis in rare cases, sometimes triggered by GH therapy
Other morphological features
• shawl scrotum (scrotum surrounding the penis resembling a shawl)
• umbilicus abnormalities
Congenital malformations
• undescended testicles
• micropenis
• hypospadias (opening of the urethra on the underside of the penis instead of at the tip)
• 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 and/or childhood hypotonia
• motor delay
• language delay
• learning difficulties
• special needs education
• ADHD (attention deficit hyperactivity disorder)
• specific learning disorders (dyslexia, dysgraphia, dyscalculia …)
• intellectual disability
• myopathic features (muscle pain, exercise intolerance)
Radiological features
• short long bones
• enlarged metaphyses
• short distal phalanges
• short middle phalanx of the 5th fingers
• short and broad femoral necks
• small femoral epiphyses
• broad and short 5th metacarpals
• broad inner part of the clavicles
• delayed bone age
• narrow vertebral canal
• cervical spine anomalies
FGD1