Head And Neck Neck:
short neck
Growth Height:
short stature
Head And Neck Nose:
bifid nasal tip
broad nasal bridge
prominent nasal septum
hypoplastic nasal alae
bulbous fleshy nose
soft nose cartilage
cutaneous-cartilaginous ridging on nasal tip
more
Neurologic Central Nervous System:
mental retardation (in some patients)
hypotonia, generalized (in some patients)
Head And Neck Head:
widow's peak (in some patients)
Skeletal Limbs:
generalized joint hypermobility (in some patients)
Skeletal Feet:
aplasia of distal phalanges, second through fifth toes
variable hypoplasia of middle phalanges, second through fifth toes
valgus deformity of the feet (rare)
Skin Nails Hair Nails:
hyponychia/anonychia, congenital
Head And Neck Mouth:
macroglossia
gingival hyperplasia
full lips
Head And Neck Eyes:
synophrys
thick eyebrows
laterally flared eyebrows
thick, long eyelashes
Head And Neck Face:
prominent philtrum
Head And Neck Ears:
sensorineural deafness
soft, thick helices and lobules
Skeletal Spine:
kyphosis (in some patients)
Skeletal Hands:
variable aplasia or hypoplasia of distal phalanges
variable aplasia or hypoplasia of middle phalanges
Skin Nails Hair Skin:
prominent fingerpads (rare)
Skin Nails Hair Hair:
hypertrichosis (hirsutism)
