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