PHENOTYPES/SYMPTOMS

Some phenotype - symptoms of ADNP Syndrome are:

NEUROLOGICAL
Includes but is not limited to:
 . cerebral atrophy – varying locations
 . diminishing white matter or white matter volume loss
 . white matter lesions
 . thinning white matter
 . thinning corpus collosum
 . under developed white matter
 . extra axial fluid
 . prominent or enlarged ventricles – varying locations
 . poor gray/white differentiation
 . bulbar palsy
 . bulbus olfactorius
 . polymicrogyria
 . macrocephaly
 . hydrocephalus
 . prominence of subarachnoid spaces
 . choroid plexus & pineal cysts
 . chronic subdural hematomas
 . dilated Virchow-Robin spaces
 . seizures (grand mal, petite mal, absent)

HEART
Includes but is not limited to:
 . ventricular septal defect
 . atrial septal defect
 . right aortic arch
 . vascular compression of esophagus by aberrant artery
 . enlarged aorta
 . mitral valve prolapse/mild mitral regurgitation
 . tachycardia
 . patent ductus arteriosus
 . peripheral pulmonary artery stenosis
 . fallot tetralogy

ORAL MOTOR and SPEECH
Includes but is not limited to:
 . oral-motor dysfunction
 . oropharyngeal dysphagia
 . frank silent aspiration
 . apraxia
 . dyspraxia

DEVELOPMENTAL
Includes but is not limited to:
 . intellectual deficits (mild to severe)
 . speech delay (mild to severe)
 . gross motor disorder (average age independent walk 24-36 months)
 . fine motor disorder
 . autism spectrum disorder
 . pervasive development disorder
 . mixed receptive-expressive disorder
 . phonological disorder
 . motor skills disorder
​ . apraxia
 . hypotonia
 . sensory processing disorder
 . attention deficit hyperactivity disorder
 . obsessive compulsive disorder
 . anxiety disorder

FACE and BODY
Includes but is not limited to:
 . early tooth eruption
 . prominent forehead
 . high hairline
 . down-slanting palpebral fissures
 . notched eyelids
 . broad nasal bridge
 . thin upper lip
 . 5th finger clinodactyly
 . low muscle tone (more common)
 . high muscle tone (less common)
 . tight frenulum  ​

ENDOCRINOLOGY:
Includes but not limited to, (abnormal)
 . thyroid
 . cholesterol
 . iron
 . carnitine
 . creatine
 . vitamin D
 . vitamin B12
 . HG11

HEARING
Includes but is not limited to:
 . central auditory processing disorder
 . abnormal testing
 . narrow ear meatus
 . fluid – otitis media
 . ear tubes

VISION
Includes but is not limited to:
 . cortical vision impairment (CVI)
 . farsightedness
 . nearsightedness
 . astigmatism
 . strabismus
 . ptosis
 . nystagmus
 . visual processing disorder
 . congenital cyst
 . anomalous optic nerve heads
 . delayed visual maturation
 . retinis pigmentosis
 . restricted peripheral vision
 . unspecified disorder of refraction and accommodation
 . lazy eye
 . isolated foveal hypoplasia

GASTROINTESTINAL
Includes but is not limited to:
 . GERD/reflux
 . cyclic vomiting
 . chronic constipation
 . chronic diarrhea
 . delayed digestion
 . stomach ulcers and scarring
 . Irritable and inflammatory bowel conditions

SLEEPING:
Includes but is not limited to:
 . sleep apnea
 . chronic sleeping difficulties
 . chronic nighttime waking
 . poor sleep pattern
 . early waking

Here we describe ADNP SYNDROME and the ADNP GENE.