#Webbed neck syndrome skin#

Other cardiocutaneous syndromes such as LEOPARD syndrome, Neurofibromatosis, and Watson syndrome have a markedly overlapping phenotype.

The differential diagnosis, therefore, includes Williams syndrome, intrauterine exposure to primidone, fetal alcohol syndrome, and Aarskog syndrome. Besides NS, the RASopathies consist of cardiofaciocutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. Several conditions identified as RASopathies have similarities with NS. Further tests may be needed and include: heart investigations including an electrocardiogram (ECG) and echocardiogram (ultrasound). ĭiagnosis is usually based on the child’s appearance and health problems, and is confirmed with genetic testing.

#Webbed neck syndrome skin#

Skin problems such as dystrophic nails extra prominence on pads of fingers and toes follicular keratosis hyperelastic skin moles thick curly hair or thin sparse hair.Infertility can be diagnosed in boys if undescended testicles are not corrected at an early age.Undescended testicles: one or both testicles may fail to drop into the scrotum in boys with NS.Hypotonia: decreased muscle tone will make children with NS reach early milestones later compared to other children.Eyes condition such as squint, lazy eye.Behavioral problems: some children with NS may have attention problems or difficulty to describe their or people emotions.Speech problems: articulation difficulty due to a high arched palate and weak muscles.Feeding problems: children with NS may have problems with sucking and chewing.Learning disability: children with NS tend to often have a mild learning disability due to a lower IQ average.Individuals with NS may also present less common problems including: Joint hyperextensibility (see Beighton score).Cubitus valgus (outward deviation of the elbows).Pectus deformity of the chest with pectus carinatum (hollow chest).Short stature: up to 83% of people with NS have a short stature.The following characteristics are also seen among individuals with NS: Many infants with NS also have heart (cardiac) defects such as Low set posteriorly rotated, abnormally formed ear: 3 month with NS As individuals have normal number of chromosomes, both males and females can be affected. The estimated incidence is at ~1 in 1000-2500. These patients were previously thought to have a form of Turner Syndrome, which has a lot of similarities in its clinical features with Noonan Syndrome. Noonan and Ehmke were the first to describe a succession of patients with the same similarities including unusual facies and multiple malformations like congenital heart disease. Sometimes, the disorder is diagnosed straight away, but some children with mild symptoms aren't diagnosed until they get older. Noonan syndrome develops in a baby before birth. People with Noonan syndrome may be mildly affected, or more severely affected. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome (NS) is a rare autosomal dominant condition or a genetic mutation present from birth, that causes a distinctive appearance and a range of health problems. NS Typical webbed neck, structural curve with rib deformity.