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MCID: RNG029
MIFTS: 27
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Ring Chromosome 14 Syndrome
Categories:
Rare diseases, Neuronal diseases, Fetal diseases
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MalaCards integrated aliases for Ring Chromosome 14 Syndrome:
Characteristics:Orphanet epidemiological data:55
ring chromosome 14 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:53
Miscellaneous:
onset in infancy one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons
Inheritance:
isolated cases HPO:31Classifications:
ICD10:
33
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NIH Rare Diseases
:
49
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1440Disease definitionRing chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.EpidemiologyIt has been described in about 50 patients.Visit the Orphanet disease page for more resources.
Last updated: 9/22/2006
MalaCards based summary : Ring Chromosome 14 Syndrome, also known as ring chromosome 14, is related to epilepsy and status epilepticus, and has symptoms including hypertelorism, low-set ears and short neck. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome). Affiliated tissues include skin and eye. OMIM : 53 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features. Additional variable features include hypotonia and retinopathy (summary by Imataka et al., 2013 and Giovannini et al., 2013). (616606) Genetics Home Reference : 24 Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking. Wikipedia : 72 Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of... more... |
Diseases in the Ring Chromosome Y Syndrome family:Diseases related to Ring Chromosome 14 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:616606Human phenotypes related to Ring Chromosome 14 Syndrome:31 (show all 18)
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Genetic tests related to Ring Chromosome 14 Syndrome:
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MalaCards organs/tissues related to Ring Chromosome 14 Syndrome:38
Skin,
Eye
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Articles related to Ring Chromosome 14 Syndrome:
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Genes related to Ring Chromosome 14 Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Ring Chromosome 14 Syndrome.
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