Congenital Conditions
Phelan-McDermid syndrome
Serious
ICD-10: Q93 · NIH NLM
हिंदी: फेलान-मैकडर्मिड सिंड्रोम · தமிழ்: பெலன்-மெக்டெர்மிட் நோய்க்குறி · ಕನ್ನಡ: ಫೆಲಾನ್-ಮ್ಯಾಕ್ಡರ್ಮಿಡ್ ಸಿಂಡ್ರೋಮ್ · తెలుగు: ఫెలాన్-మెక్డెర్మిడ్ సిండ్రోమ్ · বাংলা: ফেলান-ম্যাকডার্মিড সিন্ড্রোম · मराठी: फेलान-मॅकडर्मिड सिंड्रोम · ગુજરાતી: ફેલાન-મેકડરમિડ સિન્ડ્રોમ
About this condition
Phelan-McDermid syndrome is a rare genetic disorder caused by deletion or mutation of a gene on chromosome 22. Children with this condition have significant developmental delays, absent or severely delayed speech, low muscle tone, and may show autism-like behaviors. Early diagnosis through genetic testing helps families access appropriate therapies including speech, occupational, and behavioral interventions to support the child's development.
Common symptoms
developmental delay
speech delay
intellectual disability
decreased muscle tone
autism-like features
seizures
When to see a doctor: for ongoing specialist care and early intervention
This condition in Indian languages
| Hindi (हिंदी) | फेलान-मैकडर्मिड सिंड्रोम · बौद्धिक अक्षमता · विकासात्मक देरी · बोलने में देरी |
| Tamil (தமிழ்) | பெலன்-மெக்டெர்மிட் நோய்க்குறி · வளர்ச்சி தாமதம் · பேச்சு தாமதம் · அறிவுசார் குறைபாடு |
| Kannada (ಕನ್ನಡ) | ಫೆಲಾನ್-ಮ್ಯಾಕ್ಡರ್ಮಿಡ್ ಸಿಂಡ್ರೋಮ್ · ಬೆಳವಣಿಗೆ ವಿಳಂಬ · ಮಾತು ವಿಳಂಬ · ಬೌದ್ಧಿಕ ಅಸಾಮರ್ಥ್ಯ |
| Telugu (తెలుగు) | ఫెలాన్-మెక్డెర్మిడ్ సిండ్రోమ్ · ఎదుగుదల ఆలస్యం · మాట ఆలస్యం · మేధో వైకల్యం |
| Bengali (বাংলা) | ফেলান-ম্যাকডার্মিড সিন্ড্রোম · বিকাশ বিলম্ব · কথা বলতে বিলম্ব · বৌদ্ধিক প্রতিবন্ধকতা |
| Marathi (मराठी) | फेलान-मॅकडर्मिड सिंड्रोम · विकास विलंब · बोलण्यात विलंब · बौद्धिक अक्षमता |
| Gujarati (ગુજરાતી) | ફેલાન-મેકડરમિડ સિન્ડ્રોમ · વિકાસ વિલંબ · બોલવામાં વિલંબ · બૌદ્ધિક અપંગતા |
Frequently asked questions
What are the symptoms of Phelan-McDermid syndrome?
developmental delay, speech delay, intellectual disability, decreased muscle tone, autism-like features, seizures.
When should I see a doctor?
for ongoing specialist care and early intervention
Is Phelan-McDermid syndrome common in India?
This condition is seen across India.
How serious is Phelan-McDermid syndrome?
Severity is classified as Serious. for ongoing specialist care and early intervention.
Related conditions
Important: This information is for general awareness only and is
not a substitute for professional medical advice. Always consult a qualified doctor.
In an emergency, call 112.
Data sourced from NIH NLM
and MOHFW India.
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