Noonan syndrome

A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.

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Recent Cases of Noonan syndrome

Browse recently discussed Noonan syndrome cases by specialists
Concluded Case

Short Webbed neck , wide spaced nipple , limb abnormalities - TURNER OR NOONAN SYNDROME Awaiting karyotyping results..

853 Views

, 8 Likes

, 16 Answers

Concluded answer

Short neck+ Widely placed nipples + CTEV +. Umbilical hernia + Over riding thumb over index finger + Search for cardiac and renal anomalies Adv karyotyping. It may be a case of SYNDROMIC BABY. To which syndrome it belongs may be infer...


Top Cases of Noonan syndrome

Selected by editors, top cases are known for unique problem or best solution

Top Noonan syndrome Doctors on Curofy

Top doctors who continously share their opinions on Noonan syndrome
Hyderabad
2098 followers

BHASKARA HOSPITAL

OBSTETRICIAN &GYNECOLOGIST

Kakatiya Medical College

M.D ( OB&GY )

User Languages
Speaks Malyalam
Dhanbad
1817 followers

National Institute of Medical Science

Md Paediatrics

National Institute of Medical Science

MD pediatrics

User Languages
Speaks English, Hindi, Nepali
Surat
1189 followers

Super Specialist in Reproductive Endocrinology

User Languages
Speaks English
NAVJEEVAN NEONATAL AND CHILD CARE HOSPITAL SIRSA
643 followers

AADESH MEDICAL COLLEGE

Associate Professor HEAD OF UNIT PAEDIATRIC

Dr SN Medical College Jodhpur

MD PAEDS

User Languages
Speaks English, Hindi
Kaithal (Haryana)
1502 followers
User Languages
Speaks English

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