PPP1CB

Clinical Characteristics

GROWTH
Height

•    Short stature
Other
•    Poor weight gain

HEAD & NECK
Head

•    Large head
•    Early fusion of head bones
Face
•    Prominent forehead
Ears
•    Ear anomalies
Eyes
•    Wide set eyes
•    Droopy eyelids (in some patients)
Mouth
•    High-arched palate
Neck
•    Short neck
•    Broad neck
•    Webbed neck

CARDIOVASCULAR
•    Heart Defects (variable)

CHEST
•    Ribs Sternum Clavicles & Scapulae
•    Chest deformity or asymmetry

GENITOURINARY
Internal Genitalia (Male)
•    undescended testicles


SKELETAL
•    Delayed bone age
Skull
•    Early fusion of the skull bones (in 1 patient)
Limbs
•    Loose joints

SKIN, NAILS, & HAIR
Skin

•    Freckling
•    Cafe-au-lait spots (brown birthmarks)
•    Doughy skin
•    Loose thin skin
•    Translucent skin
Hair
•    Sparse hair
•    Slow-growing hair
•    Loose hair
•    Unruly hair

NEUROLOGIC
Central Nervous System
•    Developmental delay
•    Speech delay
•    Low muscle tone
•    Variable anomalies of the central nervous system