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MCID: MCD002
MIFTS: 23
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Mcdonough Syndrome
Categories:
Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mcdonough Syndrome:
Characteristics:Orphanet epidemiological data:58
mcdonough syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2471 Definition McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus , large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984. Visit the Orphanet disease page for more resources.
MalaCards based summary : Mcdonough Syndrome, also known as mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect, is related to cryptorchidism, unilateral or bilateral and multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Affiliated tissues include heart, tongue and eye, and related phenotypes are intellectual disability and prominent supraorbital ridges
More information from OMIM:
248950
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Diseases related to Mcdonough Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Mcdonough Syndrome:58 31 (show all 43)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:248950 |
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MalaCards organs/tissues related to Mcdonough Syndrome:40
Heart,
Tongue,
Eye
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Articles related to Mcdonough Syndrome:
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Search
GEO
for disease gene expression data for Mcdonough Syndrome.
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