1. location 11p15.5
    chrom 11
    ophalocele (umbilical hernia)
    ear lob creases
    large and prognathic mandible

    upper airway obstruction-open mouth posture
    Beckwith-Wiedemann Syndrome
  2. Coloboma
    Heart disease
    choanal Atresia
    Retarded mental and somatic development
    Genital anomalies
    Ear anomalies
    mapped 8q12.1
    CHARGE Syndrome
  3. mask-like facies due to 6th and 7th CN
    lack of facial expression
    inability to produce bilabial consonants
    typically do not have CP
    Moebius Sequence
  4. chrom 1 (1q32-q41)
    variable expression-lip pits
    Van der Woude Syndrome (VWS)
  5. early mandibular hypoplasia
    micrognathia & retrognathia
    cleft palate
    bird-like faces
    MEE and conductive H/L
    Robin sequence
  6. autosomal disorder
    chrom 12 (12q13.11-13.2)
    progressive sensory neural H/L
    flattened midface
    long face
    Stickler syndrome
  7. microcephaly and small orbits
    short palpebral fissures
    epicanthal folds
    smooth philtrum and thin upper lip
    small nose
    underdeveloped mandible
    Fetal Alcohol Syndrome (FAS)
  8. Chrom 22 (22q11.2)
    CP or non cleft VP inadequacy
    small stature
    cardia defects
    prominent nose
    narrow palpebral fissures
    malar deficiency
    upper lip
    retruded chin
    small, hands
    hooded eyelids
    hypernasal speech
    Velocardiofacial Syndrome (VCFS)
  9. underdevelopment on one side of the face
    pre-auricular pits or tags
    epibulbar dermoid
    ocular coloboma
    weakness of mastication
    spectrum of anomalies -not a syndrome
    3:2 male to female
    Hemifacial microsomia (HFMS)
  10. chrom 5 (5q32-33.1)
    lower lid colobomas
    absent eye lashes
    downward slanting palpebral fissures
    depressed checkbones (malar hypoplasia)
    • mandibulofacial dysostosis
    • (Treacher Collins syndrome)
  11. resembles MF dysostosis
    facial and limb deformities
    cheeck extensions of scalp hair
    external and ME malformations
    Nager Syndrome
  12. clawlike hands and feet
    chrom 7
    cleft lip and palate
    thin sparse hair, lashes, eyebrows
    brittle nails (hypoplastic)
    EEC Syndrome (Ectrodactyly, Ectodermal dyplasis, Cleft)
  13. 4 syndromes of premature craniofacial synostosis?
    • Apert
    • Crouzon
    • Pfeiffer
    • Saethre Chotzen
  14. mult deformities-skull, face, max, mand, hands, feet, joints
    chrom 10 (10q25.3-q26)
    fusion of C5-C6
    foreshortened, vertically long skull
    beaked nose
    chronic airway and ear problems
    Apert syndrome (acrocephalosyndactyly)
  15. chrome 10
    skull is round
    shortened A-P dimension
    no limb deformities
    ocular proptosis
    CL III maloclussion
    parrot like nose
    Crouzon Syndrome (craniofacial dysostosis)
  16. chrom 8 (8p11.2-p12) Type 1
    chrom 10 Type 2
    broad thumb and big toe
    otologic-conductive HL
    brachycephalic skull shape
    Pfeiffer Syndrome
  17. chrom 7
    low frontal hair line
    facial asymmetry
    ptosis (drooping) of the eye lid
    deviated septum
    digital-brachy, clinodactyly, partial syndactyly
    high forehead
    low set ears
    cervical spine fusions
    Saethre-chotzen syndrome
Card Set
Mod 7 Syndromes