• autosomal dominant
• downslanting eyes/palpebral fissures
• colobomas of lower eyelids (notch in lower eyelid)
• microtia 
• Hypoplastic zygoma (zygomatic arch doesn’t have a lot of tissue, so there is abnormal bone structure)
•    Mandibular micrognathia (tongue base in pharynx, resonance differences bc muscles in jaw are not adequate
• Cleft palate
• Normal cognition
• Hearing impairment (BAHA-in place of bone conduction hearing aid-like a cochlear implant but for a conductive hearing loss)
• Expressive and receptive language delays
• Articulation errors
• Resonance disorder (cul-de-sac)

• Autosomal dominant (50% risk rate in every pregnancy) [tend not to be as much reproduction in Apert’s)
• Craniosynostosis (sutures in cranium, sutures fuse too early-premature fusion of cranial sutures [two coronal sutures that fuse early-bilateral coronal craniosynostosis] brain grows up and forward-results in abnormal shape)
• Midface hypoplasia (midface does not have enough tissue as a result eyes bulge, don’t have eye sockets so they bulge [proptotic eyes])
• Hypertelorism (eyes are wide set)
• Proptotic eyes (eyes bulge)
• Syndactyly (hands and feet) hands are fused; instead of fingers may present with an opposing thumb or mitted; or thumb and pinky
• Cleft palate
• Below normal cognition
• Expressive and receptive language delays
• Articulation disorder (because of cleft palate, because of multiple ear infections, class III occlusion)
• Resonance disorder (hyponasal because of midface hypoplasia)
• 1 in a million births
•  *qualifying diagnosis for Aperts is syndactclyl

• Autosomal dominant
• Craniosynostosis (bilateral coronal)
• Midface hypoplasia
• Hypertelorism
• Proptotic eyes
•  Cleft palate
• Normal cognition
• Expressive and receptive language delays
• Articulation disorder
• Resonance disorder (hyponasal because of midface hypoplasia)
• *the way you tell the difference between Apert’s and Crouzon’s is the syndactyly

• Autosomal dominant
• Cleft lip +/- palate
• Lip pits (looks like snake bites on lower lip)
•  High frequency hearing loss
• Normal cognition
• Expressive and receptive language delays
•  Articulation disorder (fricatives, affricates, and sibilants)
• Resonance disorder (VP dysfunction)
• At risk for chronic otitis media
• *the most common syndrome that involves cleft lip and or palate

• (half face is small tissue; eye ear vertebrae; OAV spectrum)
•  Sporadic (not autosomal dominant)
•  Facial asymmetry (becomes outside of the normal range)
        -Test for facial asymmetry-put tongue blade on    tongue-it will tilt one way
•  Ear defects (ear tag)
• Cleft lip +/- palate
• Normal cognition
• Hearing impairment
• Expressive and receptive language delays
• Articulation disorder
• Resonance disorder

• Not a syndrome
•  Sequence due to developmental error
• Orofacial findings

o   Kidney

22q11.2 deletion syndrome/Velocardiofacial syndrome/DiGeorge syndrome

• autosomal dominant
• Cleft palate/VPI
• Cardiac defects
• Cognitive deficits
• Expressive and receptive language delays
• Articulation disorder
• Resonance disorder
• *most common craniofacial syndrome (1 in 1000)

• Autosomal dominant
• Cleft palate/VPI (cleft palate; SMCP; no cleft at all)
• Cardiac defects
• Visual defects (myopia-nearsighted and risk for early/premature retinal detachment-blindness will occur if the detachment is not taken care of)
• High frequency hearing loss
• Normal cognition
•  Expressive and receptive language delays
•  Articulation disorder (VPD)
• Resonance disorder (VPD)

Craniosynostosis

• Premature fusion of cranial sutures
• Unilateral

o   Isolated event

• Bilateral

o   Seen in syndromes (aperts, crouzon, etc)

• Fuse by 12-14 months of age TYPICALLY
• Abnormal kiddos are typically fused closed to birth
• Trigonocephaly- fused at metropic suture (ridge down forehead, coming to a point, looks like a triangle, eyes wide set)
• Scaphocephaly- fused saggital suture (long ant to post segment)
• Plagiocephaly- fused coronal suture (one side)-head shape grows opposite of fused suture (one side looks like it is bulging out)

o   Feet from Apert’s; 3,4, or 5 digit fusion

o   Induced by babies’ environment in utero-pressure on skill, creates asymmetry

o   Sutures are not fused

o   “back to sleep campaign” infants need to sleep on their back

o   torticollis

o   head band/helmet therapy

o   physical therapy

• Clover leaf head- fusion of sagittal and bilateral coronal suture

-lack of vertical dimension in eyes

-hypotonic/gummy smile

-long face

-wide nasal bridge

-1/2000 general population

-1/1800 live births

-autosomal dominant

-“new mutations”

FISH study vs chromosome    

-late diagnosis