What is polydactyly associated with?
Table of Contents
Polydactyly can occur by itself, or more commonly, as one feature of a syndrome of congenital anomalies. When it occurs by itself, it is associated with autosomal dominant mutations in single genes, i.e. it is not a multifactorial trait. But mutation in a variety of genes can give rise to polydactyly.
What causes Preaxial polydactyly?
Preaxial type 1 polydactyly is caused by sequence variants in the sonic hedgehog (SHH) enhancer, called zone of polarizing activity (ZPA) regulatory sequence (ZRS) (Lettice et al., 2002; Wieczorek et al., 2010; Perez-Lopez et al., 2018).
What genetic defect causes polydactyly?
More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare condition whose major features include polydactyly, an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway called a bifid epiglottis.
How does polydactyly affect the body?
Symptoms of polydactyly Polydactyly causes a person to have extra fingers or toes on one or both of their hands or feet. The extra digit or digits may be: complete and fully functional. partially formed, with some bone.
What is senior Loken syndrome?
Collapse Section. Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood.
What is Alstrom Syndrome?
Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy ), obesity, type 2 diabetes (the most common form of diabetes), and short stature.
What are the genetic syndromes associated with polydactyly?
In some cases there is an association with genetic syndromes: Meckel – Gruber syndrome: autosomal recessive; polydactyly, polycystic kidneys, occipital cephalocele. Bardet – Biedl syndrome: autosomal recessive; postaxial polydactyly, enlarged hyperechogenic kidneys.
What are the postnatal symptoms of polydactyly?
Postnatally: obesity, retinopathy, hypogonadism, neurological disorders. Short – rib polydactyly syndrome: autosomal recessive; short limbs, hypoplastic thorax, polydactyly, h eart and brain defects, polycystic kidneys.
What is preaxial polydactyly?
Preaxial polydactyly refers to polydactyly where the additional digit grows toward the first digit of the hand (radial side; thumb) or foot (medially). The incidence of PPD is reported as high as 10/300 births (Deng et al., 2015; Manske et al., 2017).
What is short rib polydactyly syndrome?
Short – rib polydactyly syndrome: autosomal recessive; short limbs, hypoplastic thorax, polydactyly, h eart and brain defects, polycystic kidneys. Ellis – van Creveld syndrome: autosomal recessive; short limbs, postaxial polydactyly, narrow chest, heart defects.