MEND syndrome
Synonyms: Male EBP disorder with neurological defects
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MEND syndrome | Male EBP disorder with neurological defects |
| fr | Syndrome MEND | Troubles neurologiques masculins liés à EBP |
| de | MEND-Syndrom | Männliche EBP-Störung mit neurologischen Defekten |
| es | Síndrome MEND | Trastorno EBP masculino con defectos neurológicos |
| it | Sindrome MEND | Malattia EBP dei maschi con disturbi neurologici |
| nl | MEND-syndroom | Mannelijke EBP-stoornis met neurologische defecten |
| pt | Síndrome MEND | |
| pl | Zespół MEND | Zaburzenie EBP u płci męskiej z objawami neurologicznym |
| cs | MEND syndrom | Mužská EBP porucha s neurologickými defekty |
| uk | Синдром MEND | Чоловічий розлад EBP з неврологічними дефектами |
| zh | MEND综合征 | 男性EBP缺陷伴神经功能缺陷 |
| tr | MEND sendromu | Nörolojik defektler ile seyreden erkek EBP bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300960 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.10 | NTBT | attributed | validated |
| MONDO | 0010498 | E | validated | |
| UMLS | C4085243 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:352487Digital anomalies-intellectual disability-short stature syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EBP | Disease-causing germline mutation(s) in | Assessed | HGNC:3133 | ENSG00000147155 | 300205 | Xp11.23 | EBP cholestenol delta-isomerase | 24459067[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 22229330[PMID]_24459067[PMID]_24700572[PMID]_27276700[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22229330[PMID]_24459067[PMID]_24700572[PMID]_27276700[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
45 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003465 | Elevated 8(9)-cholestenol | |
| HP:0003462 | Elevated 8-dehydrocholesterol | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0012433 | Abnormal social behavior | |
| HP:0000422 | Abnormality of the nasal bridge | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0009941 | Asymmetry of the mouth | |
| HP:0010055 | Broad hallux | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001161 | Hand polydactyly | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002509 | Limb hypertonia | |
| HP:0100807 | Long fingers | |
| HP:0000472 | Long neck | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0011800 | Midface retrusion | |
| HP:0010557 | Overlapping fingers | |
| HP:0001845 | Overlapping toe | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0005590 | Spotty hypopigmentation | |
| HP:0000506 | Telecanthus | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0000175 | Cleft palate | |
| HP:0000752 | Hyperactivity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24459067[PMID]_23307567[PMID]_20949533[PMID]_12503101[PMID]_23307567[PMID]_24459067[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401973
- This record as JSON: /data/d/401973.json