Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant This gene produces the Shh protein that induces development of the ulna, and the index, middle, ring, and pinky fingers while increasing the expression of fibroblast growth factor (FGF), another signaling molecule, which induces development of the radius and thumb. Both Shh and FGF are widely expressed during early embryo development. When this rare allele of Shh gene is expressed, the result is reduced Shh protein production, which hampers FGF expression, potentially leading to radial hypoplasia.
Treatment and prognosis
Treatment usually begins after birth and minor cases involve stretching, manipulation, and splinting. The goal of surgery is to increase length and straighten forearm and thumb reconstruction.
Treatment and prognosis
Surgery is done to correct any variations in the thumb and improve appearance; methods would vary on a case-by-case basis
Hypospadia
Signs and symptoms
thumb|Examples of different types of hypospadias
In the males, Hypospadias was seen, which is the opening of the urethra was at the underside of the penis rather than at the tip.
Causes
Hypospadias can come about as a result of imbalances in the Wnt, Shh, Hox, and BMP pathways during fetal development. The Wnt, Shh, Hox, and BMP families are widely expressed throughout development. During the development of male external genitalia, Shh acts as a central cue, indirectly activating Hoxa13 and Hoxd13 by binding to the Patched receptor, and directly activating BMP2, Fgf10, Wnt5a, and BMP4. Fgf10 induces further Shh expression, while BMP4 represses Wnt5a expression. Rare allelic expression of any one of these genes can result in hypospadias.
Treatment and prognosis
Minor forms do not require reconstructive surgery; Interventions include: correcting the location of urethral opening, repairing skin near the urethra opening, and straightening penile shaft.
Maxillary diastema
Signs and symptoms
thumb|Diastema of the upper (maxillary) teeth
The family also had Anterior Maxillary Diastema, a space between the upper incisors.
Causes
It highly likely this condition is caused by a genetic factor, but the exact gene is unknown.
Treatment and prognosis
Treatment is centered around closing the gap between the incisors: either by veneers, braces, implants, or boding to conceal the gap.
Similar diseases
Marfan syndrome - Is another autosomal dominant congenital condition. Symptoms consist of curved spine, thumb abnormalities, heart disease. Like Schmitt Gillenwater Kelly syndrome, surgery is done for cosmetic and reconstructive purposes. Unlike Schmitt GIllenwater Kelly Syndrome, Marfan syndrome has a higher likelihood of developing life-threatening complications.