Webbed neck differential diagnosis. Although birth length is .

Webbed neck differential diagnosis Signs and symptoms Jan 1, 2014 · Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. Dec 10, 2017 · Webbed neck: Lymphedema in utero can cause a broad neck and a low or indistinct hairline. Redundant skin or a webbed neck may be seen in trisomy 21 and in Turner and Noonan syndromes. Noonan syndrome is a condition that is very similar to Turner syndrome and often can be confusing to distinguish. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Endocrinology. However, only females are affected by Turner syndrome (45, X0), as the X chromosome is 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. 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. 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. … 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. Both syndromes display a webbed neck and short stature. 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]. During fetal life, this manifests as increased nuchal translucency or cystic hygroma. Although birth length is usually normal, final adult height approaches the lower limit of normal. 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. Cystic hygromas are soft fluctuant masses (usually unilateral) that transilluminate. Powell-Hamilton NN. Nov 15, 2001 · Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Specialists may also suggest specific genetic testing or other types of tests to . 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. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. of 2. Apr 11, 2022 · Noonan syndrome is a genetic disorder with a broad range of manifestations and disease severity. 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. Some 25% to 40% of patients have dermatologic abnormalities. \n\nLess common signs and symptoms can occur in 10q26 deletion syndrome. 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. Tables. 2006 Jun. 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. Back to List. [QxMD MEDLINE Link]. 5. In the absence of these findings, some children are diagnosed later, based on short stature, lack of pubertal development, and amenorrhea. The loose skin folds around the neck will form a webbed neck later in life. In neonates, the diagnosis of Turner syndrome may be suspected based on the presence of lymphedema or a webbed neck. Arch Dis Child. 1938. However, Noonan syndrome is caused by an autosomal dominant mutation of the PTPN11 gene, and it can affect males or females. 23:566-574. In some instances, a webbed neck may be one of the features of a rare disease or genetic syndrome. Optimising management in Turner syndrome: from infancy to adult transfer. Sep 30, 2024 · Differential Diagnoses. Noonan syndrome develops Dec 10, 2017 · Turner HH. [1] Apr 8, 2023 · This genetic disorder also presents with short stature, wide neck and associated cardiovascular defects. [Guideline] Donaldson MD, Gault EJ, Tan KW, Dunger DB. Cubitus valgus (increased carrying angle): This is a common skeletal anomaly in girls due to abnormal development of the trochlear head. [2]People with Noonan syndrome may be mildly affected, or more severely affected. Aug 8, 2023 · Differential Diagnosis. Jan 9, 2023 · Noonan syndrome has been referred to as “pseudo-Turner syndrome” due to the similarities between Turner and Noonan syndromes. There are many variants. A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. Some people with this condition have a short neck with extra folds of skin (webbed neck). Fetal Alcohol Syndrome. Noonan syndrome presents with similar clinical characteristics such as a webbed neck, short stature, cardiac, and renal 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. 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). 91(6):513-20. qwz bwt euyhgik kcgbfxq oybb mot ues zlo vgny nmfxp