Autosomal dominant multiple pterygium syndrome

Autosomal dominant multiple pterygium syndrome
Synonyms	Escobar syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Pterygium, webbed neck, skeletal abnormalities, facial dysmorphism
Complications	Respiratory distress, joint contractures
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the CHRNA1, CHRND, or CHRNG genes
Risks	Family history of the condition
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Arthrogryposis, Noonan syndrome, Turner syndrome
Prevention	Genetic counseling
Treatment	Physical therapy, surgical intervention
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

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NIH genetic and rare disease info[edit source]

NIH info on Autosomal dominant multiple pterygium syndrome

Autosomal dominant multiple pterygium syndrome is a rare disease.

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Rare diseases - Autosomal dominant multiple pterygium syndrome
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

Autosomal dominant multiple pterygium syndrome

Synonyms	Escobar syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Pterygium, webbed neck, skeletal abnormalities, facial dysmorphism
Complications	Respiratory distress, joint contractures
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the CHRNA1, CHRND, or CHRNG genes
Risks	Family history of the condition
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Arthrogryposis, Noonan syndrome, Turner syndrome
Prevention	Genetic counseling
Treatment	Physical therapy, surgical intervention
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A