Coffin-Siris syndrome
MONDO:0015452Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Also known as: CSS, Coffin-Siris syndrome, intellectual disability with absent fifth fingernail and terminal phalanx
39 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Coffin-Siris syndrome 1
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Coffin-Siris syndrome 10
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Coffin-Siris syndrome 11
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Coffin-Siris syndrome 12
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Coffin-Siris syndrome 5
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Coffin-Siris syndrome 7
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Coffin-Siris syndrome 8
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Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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Intellectual disability, autosomal dominant 14
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Intellectual disability, autosomal dominant 15
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Intellectual disability, autosomal dominant 16
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Broader categories
Disease
(618)
Musculoskeletal system disorder
(196)
Hereditary disease
(172)
Syndromic disease
(24)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Skeletal system disorder
(4)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)