Structure

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

upper airway obstruction-open mouth posture
hypoglycemia

Coloboma
Heart disease
choanal Atresia
Retarded mental and somatic development
Genital anomalies
Ear anomalies
mapped 8q12.1

mask-like facies due to 6th and 7th CN
lack of facial expression
inability to produce bilabial consonants
syndactyly
micrognathia
typically do not have CP

chrom 1 (1q32-q41)
variable expression-lip pits
hypodontia

early mandibular hypoplasia
micrognathia & retrognathia
glossoptosis
cleft palate
bird-like faces
MEE and conductive H/L

autosomal disorder
chrom 12 (12q13.11-13.2)
progressive sensory neural H/L
flattened midface
long face

microcephaly and small orbits
short palpebral fissures
epicanthal folds
smooth philtrum and thin upper lip
small nose
underdeveloped mandible

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

underdevelopment on one side of the face
microtia
pre-auricular pits or tags
epibulbar dermoid
ocular coloboma
weakness of mastication
malocclusion
spectrum of anomalies -not a syndrome
3:2 male to female

chrom 5 (5q32-33.1)
lower lid colobomas
absent eye lashes
downward slanting palpebral fissures
depressed checkbones (malar hypoplasia)
macrostomia

resembles MF dysostosis
facial and limb deformities
cheeck extensions of scalp hair
hypoplasia
external and ME malformations

clawlike hands and feet
chrom 7
cleft lip and palate
thin sparse hair, lashes, eyebrows
brittle nails (hypoplastic)

4 syndromes of premature craniofacial synostosis?

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

chrome 10
skull is round
shortened A-P dimension
no limb deformities
ocular proptosis
CL III maloclussion
parrot like nose

chrom 8 (8p11.2-p12) Type 1
chrom 10 Type 2
broad thumb and big toe
otologic-conductive HL
brachycephalic skull shape

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