KAT6A 

KAT6A Conditions

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Physical Traits

Adorable

Infectious Laughter
Craniosynotosis
Microcephaly
Macrocephaly
Thick Coarse Hair
Sporadic White Hair
Bulges at Temples
Bi-temporal Narrowing
Deep Set Eyes
Arched eyebrows
Eye Pits
Low Set Ears
Ear Pits
Slightly Thick Helices 
Epicanthal Folds
Posteriorly Rotated Ears
Over Folded Superior Helices 
Broad Nasal Bridge
Prominent Nasal Bridge
Short Neck
Stacks neck when fatigued
Small Top Lip
Small down-turned mouth
Triangular Mouth
Long Tongue with Raised Ridge
Small Teeth 
Pointed Teeth
Cleft Palate
Narrow anterior Palate
Tongue Tied
Upper and lower Tight Frenulums
Severe Gag Reflex
Micrognathia(Small Jaw)
Critical Airway
Anterior Airway
Tracheal Compression
Decreased neck motion  
Torticollis
Limited lateral bending and rotation
Barrel Chest
Pectus Carinatum
Short Stature
Tall and Slender
Hypotonia
Hypertonia
Dystonia
Muscle Spasms
Small Birth Marks
Supernumerary Nipples (3,4)
Small Wide Spaced Nipples
Fingers can be fine or thin or bent
Single Transverse Palmer Creases Bilateral
Large Thumbs Proximal

Small
Bent Pinky Fingers
Half Nail on Left Index Finger
Long Fingers
Baby Like Hands
Small Feet
Flat Feet
Hooked toes
Large Big Toes

Short Toes
Pinky Toes on Their Sides
Toes on Their Sides
Hydrocele Hernia
Inguinal Hernia
Umbilical Hernia
Retractile and Undescended Testicles
One Testicle Smaller Than The Other
Cryptorchidism
Fatty Filum
Anterior Placed Anus
Coccygeal Dimple
Scoliosis
Hyper-mobile
Joint Laxity
Cracks/Pops Easily

Fractures

Broken Bones

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Development

Non-Verbal
Apraxia of Speech
Choking
Sensory Seeking
Sensory Adverse
Afraid of loud noises
Likes sound crinkling or tearing paper
Poor Sleeper
Uses Sign Language
Speech Device AAC
Delayed Motor Skills;

Late sitting,crawling walking etc.
Some kids can't jump yet
Unbalanced/Clumsy Falls often
Prone to broken bones/fractures
Can't chew
Unable to Suck/Nurse

Excessive Mouthing Behaviors

Receptive & Non-Verbal Communication

better than expressive

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Behavioral Signs

Happy Demeanor
Laughs often
Kicking legs when excited
Short Attention Span
Friendly
Well behaved
Loves to hug
Always Smiling
Loves cuddles
Sweet-Natured
Sunny and Outgoing
Giggly
Easy Going

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Surgeries some with KAT6A have had:

Chiari Decompression
Cranial Distraction Expansion
Cranial Vault Reconstruction
VP Shunt
ICP Monitoring
Tethered Cord Release
Tonsils
Adenoids
Base of Tonuge Reduction
ABR's (Hearing Test)Under sedation due to failing awake.
Ear Tube Placement
Bronchoscopy
Endoscopy with Biopsies
Feeding Tube Surgery
Atrial Septal Defect Repair
Heart Surgery Open &
Cardiac Catheterization
Cervical Fusion
Hernia Repair
Fundoplication
Labial Frenectomy
Lingual Frenectomy
Dental Surgery
Bone Marrow Biopsy
Eye Muscle Surgery
Ptosis Surgery
Myringotomy
Pyloroplasty
Double Orchiopexy

LADDS Procedure

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