ORPHA:85321
Deafness-intellectual disability syndrome, Martin-Probst type
Synonyms: Hearing loss-intellectual disability syndrome, Martin-Probst type · Martin-Probst syndrome · X-linked deafness-intellectual disability syndrome · X-linked hearing loss-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-intellectual disability syndrome, Martin-Probst type | Hearing loss-intellectual disability syndrome, Martin-Probst type · Martin-Probst syndrome · X-linked deafness-intellectual disability syndrome · X-linked hearing loss-intellectual disability syndrome |
| fr | Syndrome de surdité-déficience intellectuelle type Martin-Probst | Syndrome de Martin-Probst · Syndrome de surdité-déficience intellectuelle lié à l'X |
| de | Schwerhörigkeit-Intelligenzminderung-Syndrom Typ Martin-Probst | Martin-Probst-Syndrom · Syndrom der X-chromosomalen Schwerhörigkeit mit Intelligenzminderung · X-chromosomaler Hörverlust mit Intelligenzminderung |
| es | Síndrome de sordera-discapacidad intelectual tipo Martin-Probst | Síndrome de Martin-Probst · Síndrome de hipoacusia-discapacidad intelectual ligado al cromosoma X · Síndrome de hipoacusia-discapacidad intelectual tipo Martin-Probst · Síndrome de sordera-discapacidad intelectual ligado al cromosoma X |
| it | Sindrome sordità-deficit cognitivo, tipo Martin-Probst | Sindrome sordità-disabilità intellettiva tipo Martin-Probst · Sindrome sordità-deficit cognitivo legato all'X · Sindrome perdita dell'udito-disabilità intelletiva, tipo Martin-Probst · Sindrome perdita dell'udito-disabilità intellettiva legata all'X · Sindrome sordità-disabilità intellettiva legata all'X · Sindrome di Martin-Probst |
| nl | Doofheid - intellectuele achterstand-syndroom, Martin-Probst-type | Gehoorverlies - intellectuele achterstand-syndroom, Martin-Probst-type · Syndroom van Martin-Probst · X-gebonden doofheid - intellectuele achterstand-syndroom · X-gebonden gehoorverlies - intellectuele achterstand-syndroom |
| pt | Síndrome de surdez-perturbação do desenvolvimento intelectual, tipo Martin-Probst | Síndrome Martin-Probst · Síndrome de perda auditiva-perturbação do desenvolvimento intelectual ligada ao X · Síndrome de perda auditiva-perturbação do desenvolvimento intelectual, tipo Martin-Probst · Síndrome de surdez-perturbação do desenvolvimento intelectual ligada ao X |
| pl | Głuchota - niepełnosprawność intelektualna typu Martina i Probsta | Zespół głuchota sprzężona z chromosomem X - niepełnosprawność intelektualna · Zespół Martina i Probsta · Zespół głuchoty i niepełnosprawności intelektualnej typu Martina-Probsta |
| cs | Syndrom zahrnující hluchotu a mentální retardaci, Martinové-Probstův typ | X-vázaný syndrom zahrnující hluchotu a mentální retardaci · Martinové-Probstův syndrom · Syndrom zahrnující hluchotu a mentální retardaci, Martin-Probstův typ · Martin-Probstův syndrom |
| uk | Синдром глухоти-інтелектуальної недостатності, тип Мартіна-Пробста | Синдром туговухості-інтелектуальної недостатності, тип Мартіна-Пробста · Синдром Мартіна-Пробста · Х-зчеплений синдром глухоти-інтелектуальної недостатності · Х-зчеплений синдром втрати слуху та інтелектуальної недостатності |
| zh | 耳聋-智力障碍综合征，Martin-Probst型 | 听力丧失-智力障碍综合征，Martin-Probst型 |
| tr | Sağırlık-zihinsel yetersizlik sendromu, Martin-Probst tipi | Martin-Probst sendromu · X'e bağlı sağırlık-zihinsel yetersizlik sendromu · X'e bağlı işitme kaybı-zihinsel yetersizlik sendromu · İşitme kaybı-zihinsel yetersizlik sendromu, Martin-Probst tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300519 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010353 | E | validated | |
| MeSH | C564495 | E | validated | |
| UMLS | C1845285 | 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 (5):
- 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11073537[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | ORPHANET_11073537[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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000689 | Dental malocclusion | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000506 | Telecanthus | |
| HP:0001537 | Umbilical hernia | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000581 | Blepharophimosis | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000821 | Hypothyroidism | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0001876 | Pancytopenia | |
| HP:0000110 | Renal dysplasia | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0004322 | Short stature | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000179 | Thick lower lip vermilion | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11073537[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85321
- This record as JSON: /data/d/85321.json