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Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder [2] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities. [3]
Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). Many times, de Morsier’s Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD. SOD is a condition that can involve multiple problems in the midline ...
Symptoms typically appear gradually over 5 to 20 minutes and generally last less than 60 minutes, leading to the headache in classic migraine with aura, or resolving without consequence in acephalgic migraine. [3] For many sufferers, scintillating scotoma is first experienced as a prodrome to migraine, then without migraine later in life ...
Idiopathic orbital inflammatory (IOI) disease refers to a marginated mass-like enhancing soft tissue involving any area of the orbit.It is the most common painful orbital mass in the adult population, and is associated with proptosis, cranial nerve palsy (Tolosa–Hunt syndrome), uveitis, and retinal detachment.
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene . [ 1 ] [ 2 ] Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.
Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.