Management

Management of the patients requires a multidisciplinary approach and evaluations by a team of professionals familiar with this condition.

At the initial diagnosis:
•    Assessment of growth and referring to an endocrinologist when necessary.
•    Orthopedic evaluation focusing on camptodactylies, feet malposition and cervical spine anomalies.
•    Checking for cryptorchidism, inguinal hernia, cleft palate and anal anomalies.
•    Cardiac evaluation with echocardiography for congenital heart disease detection and aortic root examination.
•    Ophthalmological examination particularly focusing on hyperopia, strabismus and ptosis (that can lead to amblyopia when the visual axis is obstructed).
•    Assessment of neurodevelopment and referring to appropriate medical and social professionals (physiotherapists, speech and language therapists, occupational therapists …) if necessary.
•    Referring to a clinical genetics service for genetic counseling.



Surveillance:
•    Regular evaluation of the growth. Bone age and GH measurements with stimulation testing in case the stature is below -2 SD. GH therapy should be considered cautiously in young patients when the short stature is mild, as a spontaneous improvement of the height may occur at the end of the first decade and during puberty. Endocrinologists should be aware of the risk of osteochondritis.
•    Regular dental evaluation and referring to a dentist or stomatologist.
•    Regular evaluation of development and early intervention programs when indicated.
•    Regular assessment for attention deficit hyperactivity disorder and other specific learning disorders.
•    Periodic evaluations for orthopedic complications such as scoliosis and osteochondritis. Cervical spine radiographs before general anesthesia.
•    Referring to a neurologist and brain MRI with angiography in case of features suggestive of cerebral vascular dysplasia (severe or chronic headaches or signs compatible with a stroke).