McDonough syndrome

McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(23.3%)		 6147215
 Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.
Garcia-Sagredo JM, Lozano C, Ferrando P, San Roman C.
Clin Genet. 1984;26(2):117-24.
Cryptorchidism Kyphoscoliosis
Adult Child Chromosomes, Human, 19-20 Congenital Heart Defects Cryptorchidism Face Females Homo sapiens Intellectual Disability Male Syndrome X Chromosome
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000336 Prominent supraorbital ridges Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000689 Dental malocclusion Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0004326 Cachexia Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000028 Cryptorchidism 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID