What is Hartsfield syndrome?

What is Hartsfield syndrome?

Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly. During early development before birth, the brain normally divides into two halves, the right and left hemispheres .

What is the genetic cause of ectrodactyly?

SHFM3 ectrodactyly maps to the 10q24 region of chromosome 10, and the responsible genetic mutation found here is a tandem duplication. This duplication actually accounts for 20% of SHFM cases. There are several genes affected by the duplication: DACTYLIN (SFHM3), BTRC, POLL, FGF8, and LBX1.

How many cases of ectrodactyly are there?

Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected.

What is Ectrodactyly ectodermal dysplasia?

Ectrodactyly ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations), and cleft lip and/or palate.

Is there a cure for ectrodactyly?

Reconstructive surgery may be beneficial for individuals with all defects causing functional disability such as ectrodactyly, syndactyly, cleft lip or palate and other associated facial anomalies (e.g., underdeveloped jaw, malformed ears). Dental surgery and corrective devices may be used to treat misshapen teeth.

Is ectrodactyly dominant or recessive?

The ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome is an autosomal dominant disorder characterized by a lobster-claw limb anomaly (ectrodactyly), which may be present in one or more limbs, cleft lip and palate, and ectodermal dysplasia.

What is antley Bixler syndrome?

General Discussion. Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. The disorder is typically associated with premature closure of joints (cranial sutures) between particular bones of the skull (craniosynostosis).

Why are some people born with lobster hands?

The hand/foot appears like a lobster-claw, thus the nickname “lobster-claw deformity.” In ectrodactyly, the basic embryologic abnormality is failure to maintain normal functioning apical ectodermal ridge, leading to failure to differentiate the autopod (hand or foot).

What is Marshall Smith Syndrome?

Marshall-Smith syndrome (MSS) is largely characterized with faster than normal bone growth. Due to their taller stature, patients have low muscle tone, muscle weakness, and may experience difficulties in gaining weight.

What does a child with Sanfilippo syndrome look like?

Children with Sanfilippo Syndrome often display some common facial features. These facial features also progress (or coarsen) as the child grows older. Frontal Bossing | An unusually promiment forehead, sometimes with a with a heavier-than-normal brow ridge.

Who is the oldest person to live with Sanfilippo syndrome?

Lucas Tiefel, who lived with Sanfilippo, was only 7 years old when he passed away.