Characteristics of FOXP1 syndrome vary widely from person to person. Every mutation of the FOXP1 gene can present with unique physical, mental, sensory, medical, and emotional differences.
Clinical Manifestations of FOXP1 Syndrome
Global developmental delays including expressive (speech) and receptive (understanding) language
Deficits in social communication
Intellectual disabilities
Autism or autistic-like tendencies
Repetitive and restrictive behaviors
Attention deficit disorder and hyperactivity
Anxiety
Obsessive compulsive traits
Sensory reactivity symptoms
Externalizing symptoms (problems with self-control of emotions and behaviors)
Neurological Features
Brain imaging abnormalities
EEG abnormalities
Hypotonia and hypertonia
Motor milestones delay
Visual motor integration deficits
Gait abnormalities
Feeding issues
Speech articulation disorder
Sleep disorder
Visual refractive error
Strabismus
Hypoacusis and hearing loss
Medical Comborbidities
Some children have multiple congenital defects and some have none. The gene mutation can affect development of different organ systems in various ways. A wide range of health concerns has been reported by both the medical community and families including:
Congenital heart defects – often restricted to atrial septal defects and EKG abnormalities
Genitourinary abnormalities and renal (kidney) malformations
Spinal bifida occulta, sacral dimple, and anal malformations
Hypothyroidism, diabetes mellitus, obesity
Constipation, iron deficiency, recurrent upper respiratory infections, allergies, hernias, dental abnormalities
Hepatic bile duct abnormalities and transient splenomegaly
Developmental dysplasia of the hip and skeletal abnormalities
It is advised for patients to be screened for associated organ system involvement including a detailed clinical examination, eye and hearing evaluation, echocardiography, and ultrasound of genitourinary tract. An electroencephalogram and brain MRI should be performed if there is any suspicion of seizures. Your medical professional should be consulted to advise which tests are necessary.
Dysmorphism
A dysmorphic feature is an abnormal difference in body structure. It can be related to a genetic syndrome like FOXP1. Individuals diagnosed with FOXP1 syndrome may share similar facial features which include:
·High broad prominent forehead
Frontal hair upsweep
Hypertelorism (abnormally increased distance between the eyes)
Ptosis (upper eyelid droops over eye)
Down slanting palpebral fissures (opening between eyelids)
Short nose with broad tip
Wide mouth with reddish lips
Pronounced vermilion border (demarcation between the lip and adjacent skin) with down turned corners of lips.
Open mouth appearance
Pronounced nasolabial folds (“laugh lines” around mouth”)
Prominent chin mostly with horizontal crease
Macrocephaly (large head)
Other body structure dysmorphic features that have been reported in various studies and from families include:
Short stature
Single palmar crease
Clinodactyly (abnormal appearance of a finger)
Hands and feet dysmorphism
Spine malformations
Joints/articulations (conditions that affect joints)
Chest indentation