MEND syndrome

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 22229330
 Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
Arnold AW, Bruckner-Tuderman L, Has C, Happle R.
Br J Dermatol. 2012;166(6):1309-13.
Confusion
EBP
c|SUB|C|33|A p|SUB|Y|11|X rs878854358
Abbreviations as Topic Child Chondrodysplasia Punctata Codon, Nonsense DNA, Complementary Differential Diagnosis Genetic Diseases, X-Linked Homo sapiens Male Phenotype Steroid Isomerases Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 45

HPO ID Term Frequency
HP:0003462 Elevated 8-dehydrocholesterol Very frequent (99-80%)
HP:0003465 Elevated 8(9)-cholestenol Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000260 Wide anterior fontanel Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000422 Abnormality of the nasal bridge Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0000472 Long neck Frequent (79-30%)
HP:0000474 Thickened nuchal skin fold Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000960 Sacral dimple Frequent (79-30%)
HP:0001161 Hand polydactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001305 Dandy-Walker malformation Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001650 Aortic valve stenosis Frequent (79-30%)
HP:0001845 Overlapping toe Frequent (79-30%)
HP:0002079 Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0002509 Limb hypertonia Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004691 2-3 toe syndactyly Frequent (79-30%)
HP:0005590 Spotty hypopigmentation Frequent (79-30%)
HP:0006958 Abnormal auditory evoked potentials Frequent (79-30%)
HP:0008064 Ichthyosis Frequent (79-30%)
HP:0009941 Asymmetry of the mouth Frequent (79-30%)
HP:0010055 Broad hallux Frequent (79-30%)
HP:0010557 Overlapping fingers Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0012433 Abnormal social behavior Frequent (79-30%)
HP:0100807 Long fingers Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000718 Aggressive behavior Occasional (29-5%)
HP:0000752 Hyperactivity Occasional (29-5%)
HP:0001627 Abnormal heart morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
EBP EBP cholestenol delta-isomerase 10682