Patient (condition)
Aliases:
Topic aliases are alternate phrasings for a particular topic.
Noack syndrome
Acrocephalosyndactyly, type V
ACS V
ACS 5
Craniofacial-skeletal-dermatologic dysplasia
1
"Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur."
dx.doi.org/10.1186/1750-1...
dx.doi.org/10.1186/1750-1...
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Jul 16, 2012