Webbed neck differential diagnosis. [Guideline] Donaldson MD, Gault EJ, Tan KW, Dunger DB.

Webbed neck differential diagnosis Redundant skin or a webbed neck may be seen in trisomy 21 and in Turner and Noonan syndromes. Dec 10, 2017 · Webbed neck: Lymphedema in utero can cause a broad neck and a low or indistinct hairline. In neonates, the diagnosis of Turner syndrome may be suspected based on the presence of lymphedema or a webbed neck. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). 1938. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. May 20, 2023 · Pterygium syndrome, alternatively called multiple pterygium syndrome (MPS), is a rare group of different genetic congenital disorders characterized by numerous webbing (pterygia) of the parts of the body (the neck, axilla, antecubital, elbow, interdigital, and popliteal regions), multiple joint contractures (arthrogryposis), and skeletal abnormalities or deformities. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. There are many variants. In the absence of these findings, some children are diagnosed later, based on short stature, lack of pubertal development, and amenorrhea. 23:566-574. Both syndromes display a webbed neck and short stature. Signs and symptoms Jan 1, 2014 · Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. Apr 11, 2022 · Noonan syndrome is a genetic disorder with a broad range of manifestations and disease severity. Cystic hygromas are soft fluctuant masses (usually unilateral) that transilluminate. However, Noonan syndrome is caused by an autosomal dominant mutation of the PTPN11 gene, and it can affect males or females. In some instances, a webbed neck may be one of the features of a rare disease or genetic syndrome. Sep 30, 2024 · Differential Diagnoses. Other important differential diagnoses in the context of short stature and delayed puberty include: 6 The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Fetal Alcohol Syndrome. Powell-Hamilton NN. Cubitus valgus (increased carrying angle): This is a common skeletal anomaly in girls due to abnormal development of the trochlear head. Aug 21, 2019 · A diagnosis of Noonan syndrome may be considered due to abnormal maternal serum triple screen, detection of excessive amniotic fluid surrounding the fetus within the amniotic sac (polyhydramnios), the presence of an abnormal cystic swelling consisting of dilated lymph vessels in the neck area (cystic hygroma), a structural heart difference Klippel–Feil syndrome is characterized by a short neck, low posterior hairline, and restricted mobility of the upper spine. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity The development of the lymphovascular system appears to be frequently perturbed in NS. A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. Endocrinology. of 2. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Although birth length is 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[1]. 91(6):513-20. During fetal life, this manifests as increased nuchal translucency or cystic hygroma. The loose skin folds around the neck will form a webbed neck later in life. Common features in Noonan and Turner syndrome:short stature, epicanthic folds, ptosis, low set or malformed ears, webbed neck, low posterior hairline, highly arched palate, cubitus valgus. [1] Apr 8, 2023 · This genetic disorder also presents with short stature, wide neck and associated cardiovascular defects. To find out if someone with a webbed neck, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Although birth length is usually normal, final adult height approaches the lower limit of normal. 2006 Jun. Back to List. [2]People with Noonan syndrome may be mildly affected, or more severely affected. Patients classically present at birth or in early childhood with distinctive facial features, webbed neck, low occipital hairline, shield chest, short stature, coagulation defects, cardiovascular and lymphatic abnormalities, cryptorchidism in males, and generalized developmental delays. Noonan syndrome develops Dec 10, 2017 · Turner HH. Aug 8, 2023 · Differential Diagnosis. [Guideline] Donaldson MD, Gault EJ, Tan KW, Dunger DB. Some people with this condition have a short neck with extra folds of skin (webbed neck). Noonan syndrome is a condition that is very similar to Turner syndrome and often can be confusing to distinguish. Jan 9, 2023 · Noonan syndrome has been referred to as “pseudo-Turner syndrome” due to the similarities between Turner and Noonan syndromes. Specialists may also suggest specific genetic testing or other types of tests to . Tables. Noonan syndrome presents with similar clinical characteristics such as a webbed neck, short stature, cardiac, and renal abnormalities. [QxMD MEDLINE Link]. However, only females are affected by Turner syndrome (45, X0), as the X chromosome is affected. 5. … Jun 5, 2025 · Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Optimising management in Turner syndrome: from infancy to adult transfer. \n\nLess common signs and symptoms can occur in 10q26 deletion syndrome. Nov 15, 2001 · Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Arch Dis Child. Those features generally resolve later during fetal life but are believed to underlie the pterygium colli (webbed neck) that is frequently observed as a feature of NS. Some 25% to 40% of patients have dermatologic abnormalities. itlbw amih blfemsa emij yjhkd dxmb pixxupu ozin ywyfbh nvejmn