MCID: ASS004
MIFTS: 27
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Aase-Smith Syndrome I
Categories:
Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Aase-Smith Syndrome I:
Characteristics:Orphanet epidemiological data:58
aase-smith syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; HPO:31
aase-smith syndrome i:
Clinical modifier death in infancy Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
Hydrocephalus -cleft palate -joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation , cleft palate , and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot . The cause of hydrocephalus-cleft palate-joint contractures syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance. Treatment is specific to the symptoms present in each individual and might include surgical correction of birth defects such as cleft palate and clubfoot.
MalaCards based summary : Aase-Smith Syndrome I, also known as aase-smith syndrome, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 6. Affiliated tissues include brain, bone and heart, and related phenotypes are scoliosis and joint stiffness Wikipedia : 74 Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some... more...
More information from OMIM:
147800
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Diseases related to Aase-Smith Syndrome I via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to Aase-Smith Syndrome I:![]() |
Human phenotypes related to Aase-Smith Syndrome I:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:147800 |
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MalaCards organs/tissues related to Aase-Smith Syndrome I:40
Brain,
Bone,
Heart,
Bone Marrow
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Articles related to Aase-Smith Syndrome I:(show all 13)
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Search
GEO
for disease gene expression data for Aase-Smith Syndrome I.
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