Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include
hypotonia
of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the
Greig cephalopolysyndactyly syndrome
(
GCPS
), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of
hypotonia
and early onset of epilepsy rather than the degree of craniofacial and limb malformations.
...
PMID:Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. 149 47
