ORPHA:2083
Prominent glabella-microcephaly-hypogenitalism syndrome
Synonyms: MacDermot-Winter syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prominent glabella-microcephaly-hypogenitalism syndrome | MacDermot-Winter syndrome |
| fr | Syndrome de glabelle proéminente-microcéphalie-petite taille | Syndrome de MacDermot-Winter |
| de | Prominente Glabella - Mikrozephalie - Hypogenitalismus | Mac-Dermot-Winter-Syndrom |
| es | Síndrome de glabela prominente-microcefalia-hipogenitalismo | Síndrome de MacDermot-Winter |
| it | Glabella prominente - microcefalia - bassa statura | Sindrome di MacDermot-Winter |
| nl | Prominente glabella - microcefalie - hypogenitalisme-syndroom | Syndroom van MacDermot-Winter |
| pt | Síndrome de glabela proeminente-microcefalia-hipogenitalismo | Síndrome MacDermot-Winter |
| pl | Wydatna gładzizna - mikrocefalia- hipogenitalizm | Zespół Mac Dermota i Wintera |
| cs | Syndrom zahrnující prominující glabelu, mikrocefalii a hypogenitalismus | Mac Dermotův-Winterův syndrom · Mac Dermot-Winterův syndrom |
| uk | Синдром вираженої глабели-мікроцефалії-гіпогеніталізму | Синдром Макдермота-Вінтерна |
| zh | 眉间突出-小头畸形-性腺功能减退综合征 | MacDermot-Winter综合征 |
| tr | Belirgin glabella-mikrosefali-hipogenitalizm sendromu | MacDermot-Winter sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 247990 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009543 | E | validated | |
| MeSH | C537714 | E | validated | |
| UMLS | C0796024 | E | validated | |
| GARD | 144 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2705483[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2705483[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.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001276 | Hypertonia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000396 | Overfolded helix | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002057 | Prominent glabella | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000046 | Small scrotum | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000126 | Hydronephrosis | |
| HP:0000470 | Short neck | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2083
- This record as JSON: /data/d/2083.json