Brachycephaly
Brachycephaly is a cranial shape anomaly characterized by a disproportionately wide, “short” head. In a healthy infant, the skull bones are flexible, allowing for brain growth and minor molding ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Posterior Plagiocephaly
Posterior plagiocephaly is a condition in which the back part of an infant’s skull appears flattened or asymmetrical. Unlike general head shape variations, posterior plagiocephaly specifically refers ...
Anterior Plagiocephaly
Anterior plagiocephaly is a type of cranial asymmetry in which one side of a baby’s forehead and brow is flattened or misshapen. Unlike the more common posterior plagiocephaly—where the back of the ...
Coronal Synostosis
Coronal synostosis is a type of craniosynostosis, a condition in which one or more of the fibrous joints (sutures) between the bones of an infant’s skull close too early. In coronal synostosis ...
Syndromic Sagittal Synostosis
Syndromic sagittal synostosis is a form of craniosynostosis in which the sagittal suture—the fibrous joint running lengthwise along the top of the skull—fuses prematurely as part of a broader genetic ...
Sagittal Synostosis
Sagittal synostosis is a form of craniosynostosis in which the sagittal suture—the fibrous joint running along the top of the skull from front to back—fuses prematurely. In a normally developing ...
Dolichocephaly
Dolichocephaly is a cranial shape variation characterized by an elongated head from front to back, resulting in a disproportionately narrow width across the temples. The term derives from the Greek ...
Scaphocephaly
Scaphocephaly, also known as dolichocephaly, is a specific form of craniosynostosis characterized by the premature fusion of the sagittal suture—the joint that runs from the front to the back at the ...
Unilateral Dysplastic Transverse Process
Unilateral Dysplastic Transverse Process refers to a congenital anomaly in which one of the bony projections (transverse processes) on a vertebra of the spine does not form correctly on one side. In ...
Post-Polio Syndrome
Post-polio syndrome (PPS) is a condition that affects people decades after they have recovered from an acute poliovirus infection. Even if the original polio caused only mild or no paralysis, many ...
Paraneoplastic POEMS Syndrome
POEMS syndrome is a rare, life-threatening paraneoplastic disorder driven by an underlying plasma cell neoplasm. The name “POEMS” is an acronym for its five hallmark features: Polyneuropathy, ...
Pectoralis Minor Syndrome
Pectoralis minor syndrome (PMS) occurs when the neurovascular structures supplying the arm—namely the branches of the brachial plexus, the axillary artery, and the axillary vein—become compressed ...
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a rare chromosomal disorder in which an individual has three copies of chromosome 13 instead of the usual two. This extra genetic material disrupts normal ...
Parry–Romberg Syndrome
Parry–Romberg syndrome, also known as progressive hemifacial atrophy, is a rare neurological and connective tissue disorder characterized by a gradual but profound wasting away of the skin, fat, ...
Parkinson-Plus Syndromes (PPS)
Parkinson-plus syndromes (PPS), also known as atypical parkinsonism, are a group of progressive neurodegenerative disorders that share the cardinal motor features of Parkinson’s disease—tremor, ...
Paraneoplastic Parinaud’s Syndrome
Paraneoplastic Parinaud’s Syndrome is a rare neurological disorder in which remote effects of an underlying cancer cause dysfunction of the dorsal midbrain, leading to impaired vertical eye movements ...
Metabolic Parinaud’s Syndrome
Metabolic Parinaud’s Syndrome is a rare neurological condition characterized by damage to the dorsal (back) part of the midbrain—specifically the vertical gaze center—resulting from metabolic ...
Vascular Malformation-Induced Parinaud’s Syndrome
Vascular Malformation-Induced Parinaud’s Syndrome is a specific form of dorsal midbrain syndrome that arises when an abnormal blood vessel structure compresses or bleeds into the tectal (dorsal) part ...
Infectious Parinaud’s Syndrome
Infectious Parinaud’s Syndrome is a form of dorsal midbrain syndrome in which an infectious process damages the tectal (posterior) midbrain, leading to characteristic abnormalities of vertical eye ...
Traumatic Parinaud’s Syndrome
Traumatic Parinaud’s Syndrome (also called dorsal midbrain syndrome or pretectal syndrome) is a set of eye and pupil problems that happen after a head injury. In this form, trauma causes damage to ...
