Mulibrey syndrome
MULIBREY syndrome (acronym in English that refers to the main affected organs: (MU) scle, (LI) ver, (BR) ain, and (EY) e; or muscle , liver , brain and eye , respectively) is a growth disorder of prenatal onset with …
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Yellow nail syndrome
Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema . Summary [ hide ] 1 Epidemiology 2 Clinical description 3 Etiology 4 Diagnostic methods …
Susac syndrome
Susac syndrome (SS) is a rare disorder characterized by the following triad: central nervous system (CNS) dysfunction , retinal arterial branch occlusions (BRAO), and sensorineural hearing loss (SNHL). It is presumably due to microvessel occlusions in the CNS, retina, and inner ear from …
Nakajo-Nishimura syndrome
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the group of proteasome disability syndromes. It is characterized by lesions similar to those of perniosis that appear in childhood followed by recurrent fever , nodular skin …
Hinman syndrome
Hinman syndrome (SH) or non-neurogenic neurogenic bladder is a bladder voiding dysfunction of neuropsychological origin characterized by functional obstruction of the bladder outlet in the absence of neurological deficits. Summary [ hide ] 1 Synonyms 2 Prevalence 3 Age …
Fryns syndrome
Fryns syndrome (SF ) is a syndrome of multiple congenital anomalies characterized by dysmorphic facial features, congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, and hypoplasia of the distal extremities, along with variable …
Dystonia-myoclonus syndrome
Myoclonic dystonia syndrome (MDS) It is a primary syndrome , that is, there is a genetic defect, in this case in the epsilon-sarcoglycan gene (SGCE) and it is autosomal dominant but there are cases of de novo …