Microlissencephaly-micromelia syndrome

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.



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

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000878 11 pairs of ribs Very frequent (99-80%)
HP:0001181 Adducted thumb Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001284 Areflexia Very frequent (99-80%)
HP:0001321 Cerebellar hypoplasia Very frequent (99-80%)
HP:0001339 Lissencephaly Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004554 Generalized hypertrichosis Very frequent (99-80%)
HP:0005484 Postnatal microcephaly Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0010945 Fetal pyelectasis Very frequent (99-80%)
HP:0100540 Palpebral edema Very frequent (99-80%)
HP:0000829 Hypoparathyroidism Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0100530 Abnormal calcium-phosphate regulating hormone level Frequent (79-30%)


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