ADNP Kids Research Foundation
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    • What is ADNP Syndrome/HVDAS
    • ADNP GENE
    • Phenotype/Symptoms List
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    • ADNP PATIENT REGISTRY PROJECT
    • Registry Permission Form
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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.  

HOME. ABOUT. RESEARCH. SUPPORT-US. PRIVACY-POLICY. ADNP SYNDROME. ADNP GENE. SYNDROME PHENOTYPE.


All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.
This information guide is not a substitute for personal diagnosis. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.

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  • Home
  • WHAT IS ADNP/HVDAS?
    • What is ADNP Syndrome/HVDAS
    • ADNP GENE
    • Phenotype/Symptoms List
  • ABOUT US
    • 501(c)(3) Determination
  • RESEARCH
    • Seaver Autism Center
    • TIGER
  • DONATE/SUPPORT
    • DONATE
    • Third Party Fundraising
    • Kendra-Gives-Back-Event
  • NEWS
    • Coronis NS FDA ODD
    • NEWS - Biomarker Discovered
    • NEWS - Autism linked biomarker
    • NEWS - p.Tyr719* Case Study
    • Year-End-2017
    • NEWS - Gozes 2017 Award
  • ADNP Patient Registry
    • ADNP PATIENT REGISTRY PROJECT
    • Registry Permission Form
  • ADNP STORE
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