Beckwith-Wiedemann syndrome (OMIM
130650) is another genetic disorder that is often associated with imprinting.
The most common congenital heart defects seen with VACTERL are atrial septal defects, ventricular septal defects, tetralogy of Fallot, transposition of the great arteries, and patent ductus arteriosus (OMIM
Fanconi anemisi ile iliskili 21 gen (OMIM
PFIC3 (ABCB4 disease, OMIM
#602347) is caused by mutations in both alleles of the ABCB4/MDR3 gene that encode phospholipid transporter MDR3, expressed in the canalicular (apical) membrane of hepatocytes .
Germline mutations of PTEN have been described in a variety of rare and clinically underrecognized syndromes, collectively known as PTEN hamartoma tumor syndrome (OMIM
Noonan syndrome (NS, OMIM
163950) is an autosomal dominant multisystem disorder characterized by a wide phenotypic spectrum including distinctive facial dysmorphism, postnatal growth retardation, short stature, ectodermal and skeletal defects, congenital heart anomalies, renal anomalies, lymphatic malformations, bleeding difficulties and variable cognitive deficits [8-10].
Cleidocranial dysplasia (CCD) (OMIM
11,960) is a rare skeletal disorder which is characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature.
This edition adds OMIM
(Online Mendelian Inheritance in Man) numbers for many of the genetic conditions.
Notably, this study reported a tight connection between serine protease inhibitor Kazal type 1 (SPINK1, OMIM
167790) c.101A>G mutation and the onset of pediatric CP.
More than 200 NPHS2 (OMIM
* 604766) gene mutations are registered in HGMD Professional 2017.1 (http://www.hgmd.cf.ac.uk) and 127 in the HGMD Public 2017.1 associated with familial and sporadic forms of SRNS.
(5) Although the only culprit in this disorder is CLNC1, different mutations in this gene can cause autosomaldominant (Thomsen disease, OMIM
160800) or recessive trait (recessive generalized myotonia or Becker myotonia, OMIM
Digitotalar dysmorphism (DTD; OMIM
#126050) is an autosomal dominant disorder characterised by congenital fixed flexion deformities of the digits and 'rocker-bottom' feet due to a vertical position of the talus.