Hypertelorism-microtia-facial clefting syndrome

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 18074358
 In utero exposure to mycophenolate mofetil: a characteristic phenotype?
Perez-Aytes A, Ledo A, Boso V, Saenz P, Roma E, Poveda JL, Vento M.
Am J Med Genet A. 2008;146A(1):1-7.
Micrognathia
Abnormalities, Drug-Induced Adult Females Homo sapiens Immunosuppressive Agents Kidney Transplantation Maternal Exposure Maternal-Fetal Exchange Phenotype Pregnancy Pregnancy Outcome Prenatal Exposure Delayed Effects Ultrasonography
2
(4.0%)		 11152141
 Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
Amiel J, Faivre L, Marianowskl R, Bonnet D, Couly G, Manach Y, Le Merrer M, Cormier-Daire V, Munnich A, Lyonnet S.
Clin Dysmorphol. 2001;10(1):15-8.
Hypertelorism
Child, Preschool Cleft Palate Developmental Disabilities External Ear Homo sapiens Infant Male Syndrome
2
(4.0%)		 7811429
 Hypertelorism-microtia-clefting (HMC) syndrome.
Verloes A.
Genet Couns. 1994;5(3):283-7.
Hypertelorism
Child, Preschool Chromosome Aberrations Cleft Palate External Ear Females Genes, Recessive Homo sapiens Homozygote Infant Infant, Newborn Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0008501 Median cleft lip and palate Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0000085 Horseshoe kidney Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001328 Specific learning disability Frequent (79-30%)
HP:0003393 Thenar muscle atrophy Frequent (79-30%)
HP:0003510 Severe short stature Frequent (79-30%)
HP:0004736 Crossed fused renal ectopia Frequent (79-30%)
HP:0000456 Bifid nasal tip Occasional (29-5%)
HP:0011803 Bifid nose Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000316 Hypertelorism 2


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID