Craniometaphyseal Dysplasia , Vincent Castaldi

Abby

Abby is an exuberant and sweet young lady with a lust for life. She is a junior in high school
who loves singing and dancing and lives life with passion. She sings in Musical Theatre class
and loves Grease and other musicals.

Despite being born with an exceptionally rare condition, craniometaphyseal dysplasia, Abby is
"one in a million" because of her spunk and personality, rather than because of a statistic.
With only ten or so reported cases affecting kids to her severity and perhaps only one-hundred
reported cases of milder forms worldwide, Abby has inspired us all to look "Beyond the
Diagnosis."

~Debbie, Abby’s Mom

Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia is an extremely rare genetic disorder characterized by distinctive
abnormalities of the head and facial area, impairment of certain nerves that emerge from the brain, and malformations of the long bones of the arms and legs. In infants and children with craniometaphyseal dysplasia, there may be an overgrowth and/or abnormal hardening of certain bones of the skull and overgrowth of craniofacial bones, resulting in widely-spaced eyes, an abnormally wide nasal bridge, an enlarged lower jaw, and a "leonine" facial appearance.

Artist: Vincent Castaldi

Exhibited by:

Beyond the Diagnosis

More from Beyond the Diagnosis

sanofi
10 x 20 in (h x w)
Beyond the Diagnosis
IONIS
10 x 20 in (h x w)
Beyond the Diagnosis
OUR , SPONSOR
Beyond the Diagnosis
Mucopolysaccharidosis Type VI , Jota Leal
Beyond the Diagnosis
CLOVES Syndrome , Phyllis Pesaturo
Beyond the Diagnosis