Symptoms and Characteristics of FOXP1 Syndrome

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