Rud syndrome

MedGen UID:: 124362
•Concept ID:: C0270709
•: Disease or Syndrome

Synonyms:	Dwarfism ichthyosiform erythroderma mental deficiency syndrome; Ichthyosis hypogonadism mental retardation epilepsy syndrome; Ichthyosis male hypogonadism syndrome; Ichthyosis mental retardation-epilepsy hypogonadism syndrome; Ichthyosis oligophrenia epilepsy syndrome; Neuroichthyosis hypogonadism syndrome; Rud Syndrome; Rud's syndrome
SNOMED CT:	Rud syndrome (2355008); Rud's syndrome (2355008); Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome (2355008)

OMIM®:	308200

Definition

Ichthyosis (usually present from infancy), mental retardation, epileptic seizures, hypogonadism with eunuchoid appearance, and occasional short stature. The male/female ratio is 2:1. [from MCA/MR]

Recent clinical studies

Etiology

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study.

Soussand L, Kuchenbuch M, Messiaen C, Sandrin A, Jannot AS, Nabbout R
Orphanet J Rare Dis 2022 Dec 9;17(1):430. doi: 10.1186/s13023-022-02580-7. PMID: 36494730 Free PMC Article

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Diagnosis

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study.

Soussand L, Kuchenbuch M, Messiaen C, Sandrin A, Jannot AS, Nabbout R
Orphanet J Rare Dis 2022 Dec 9;17(1):430. doi: 10.1186/s13023-022-02580-7. PMID: 36494730 Free PMC Article

Rud syndrome with focal cortical dysplasia: a case report.

Marconi S, Cantalupo G, Marliani F, Toni F, Capovilla G, Lorenzetti E, Romeo A, Michelucci R, Rubboli G
Brain Dev 2011 Sep;33(8):683-6. Epub 2010 Nov 12 doi: 10.1016/j.braindev.2010.10.011. PMID: 21074957

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

Stoll C, Eyer D
Ann Genet 1999;42(1):45-50. PMID: 10214507

Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.

Marxmiller J, Trenkle I, Ashwal S
Dev Med Child Neurol 1985 Jun;27(3):335-43. doi: 10.1111/j.1469-8749.1985.tb04545.x. PMID: 3926570

MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.

RICHARDS BW
Can Med Assoc J 1963 Nov 16;89(20):1024-9. PMID: 14081787 Free PMC Article

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