PHENOTYPES/SYMPTOMS

This list is meant to outline the common features of ADNP Syndrome.  It is not intended to guide your medical care.  Please consult your physician for specific health care questions.

DEVELOPMENTAL
Includes but is not limited to:
 . intellectual deficits 
 . speech delay / oral motor disorder (see below)
 . 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
 . hypotonia

BEHAVIORAL
Includes but is not limited to:
 . autism and autistic-like behavior
   (prevalence 77% asd diagnosis, 93% very similar autistic traits)
 . happy demeanor
 . sensory processing disorder
 . attention deficit hyperactivity disorder
 . obsessive compulsive disorder
 . anxiety disorder
 . high pain threshold
 . development of obsession with drinking and eating

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

NEUROLOGICAL
Includes but is not limited to:
. cerebral atrophy – varying locations
. thinning/diminishing white matter or white matter volume loss
. white matter lesions
. 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, nocturnal)

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

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.