Edinburgh malformation syndrome

Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000453 Choanal atresia Very frequent (99-80%)
HP:0001007 Hirsutism Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001608 Abnormality of the voice Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0008056 Aplasia/Hypoplasia affecting the eye Very frequent (99-80%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0001238 Slender finger Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0100807 Long fingers Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0001088 Brushfield spots Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0002269 Abnormality of neuronal migration Occasional (29-5%)
HP:0005616 Accelerated skeletal maturation Occasional (29-5%)
HP:0009465 Ulnar deviation of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID