ORPHA:3219
Fountain syndrome
historical
Synonyms: Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome · Hearing loss-skeletal dysplasia-coarse face with full lips syndrome · Hearing loss-skeletal dysplasia-lip granuloma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fountain syndrome | Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome · Hearing loss-skeletal dysplasia-coarse face with full lips syndrome · Hearing loss-skeletal dysplasia-lip granuloma syndrome |
| fr | Syndrome de Fountain | Syndrome de surdité-dysplasie squelettique-granulome labial · Syndrome de surdité-dysplasie squelettique-visage aux traits grossiers avec lèvres épaisses |
| de | Fountain-Syndrom | Schwerhörigkeit - Skelettdysplasie - Lippen-Granulom |
| es | Síndrome de Fountain | Síndrome de hipoacusia-displasia esquelética-cara tosca y labios grandes · Síndrome de hipoacusia-displasia esquelética-granuloma labial · Síndrome de sordera-displasia esquelética-cara tosca y labios grandes · Síndrome de sordera-displasia esquelética-granuloma labial |
| it | Sindrome di Fountain | Sordità - displasia scheletrica - faccia grossolana con labbra carnose · Sordità - displasia scheletrica - granuloma del labbro |
| nl | Syndroom van Fountain | Doofheid - skeletdysplasie - grof gelaat met volle lippen-syndroom · Doofheid - skeletdysplasie - lipgranuloom-syndroom |
| pt | Síndrome Fountain | Síndrome de perda auditiva-displasia esquelética-granuloma do lábio · Síndrome de surdez-displasia esquelética-granuloma do lábio |
| pl | Zespół Fountaina | Głuchota - dysplazja szkieletowa - gruba twarz z pełnymi ustami · Głuchota - dysplazja szkieletowa - ziarniniak wargi |
| cs | Fountainův syndrom | Syndrom zahrnující hluchotu, skeletální dysplázii a granulomy rtu · Syndrom zahrnující hluchotu, skeletální dysplázii a hrubé rysy obličeje s plnými rty |
| uk | Синдром Фонтейну | Синдром глухоти-скелетної дисплазії-грубого обличчя з повними губами · Синдром глухоти-скелетної дисплазії-гранульоми губ · Синдром втрати слуху - скелетної дисплазії - грубого обличчя з повними губами · Синдром втрати слуху - скелетної дисплазії - гранульоми губ |
| zh | Fountain综合征 | 听力丧失-骨骼发育不良-特殊面容伴嘴唇丰满综合征 |
| tr | Fountain sendromu | Sağırlık-iskelet displazisi-dudak granülom sendromu · İşitme kaybı-iskelet displazisi-dudak granülom sendromu · Sağırlık-iskelet displazisi-dolgun dudak sendromu ile seyreden kaba yüz · İşitme kaybı-iskelet displazisi-dolgun dudak sendromu ile seyreden kaba yüz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229120 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009241 | E | validated | |
| MeSH | C537270 | E | validated | |
| UMLS | C0795944 | E | validated | |
| GARD | 64 | E | validated | |
| MedDRA | 10083946 | 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 (3):
- 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
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 8897038[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8897038[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
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0000282 | Facial edema | |
| HP:0001249 | Intellectual disability | |
| HP:0000311 | Round face | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000179 | Thick lower lip vermilion | |
| Frequent (79-30%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000293 | Full cheeks | |
| HP:0000974 | Hyperextensible skin | |
| HP:0011800 | Midface retrusion | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000965 | Cutis marmorata | |
| HP:0000286 | Epicanthus | |
| HP:0010783 | Erythema | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000316 | Hypertelorism | |
| HP:0002808 | Kyphosis | |
| HP:0001176 | Large hands | |
| HP:0000276 | Long face | |
| HP:0000256 | Macrocephaly | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0000545 | Myopia | |
| HP:0200034 | Papule | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0002414 | Spina bifida | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000505 | Visual impairment | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3219
- This record as JSON: /data/d/3219.json