ORPHA:1272
Aymé-Gripp syndrome
Synonyms: Brachycephaly-deafness-cataract-intellectual disability syndrome · Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aymé-Gripp syndrome | Brachycephaly-deafness-cataract-intellectual disability syndrome · Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome |
| fr | Syndrome Aymé-Gripp | Syndrome de Fine-Lubinsky · Syndrome de brachycéphalie-surdité-cataracte-déficience intellectuelle |
| de | Aymé-Gripp-Syndrom | Brachyzephalie-Hörverlust-Katarakt-Intelligenzminderung-Syndrom · Brachyzephalie-Taubheit-Katarakt-Intelligenzminderung-Syndrom · Fine-Lubinsky-Syndrom |
| es | Síndrome de Aymé-Gripp | Síndrome de Fine-Lubinsky · Síndrome de braquicefalia-hipoacusia-catarata-discapacidad intelectual · Síndrome de braquicefalia-sordera-catarata-discapacidad intelectual |
| it | Sindrome Aymé-Gripp | Sindrome di Fine-Lubinsky · Sindrome brachicefalia-sordità-cataratta-disabilità intellettiva · Brachicefalia - sordità - cataratta - ritardo mentale |
| nl | Syndroom van Aymé-Gripp | Brachycefalie - doofheid - cataract - intellectuele achterstand-syndroom · Brachycefalie - gehoorverlies - cataract - intellectuele achterstand-syndroom · Syndroom van Fine-Lubinsky |
| pt | Síndrome Aymé-Gripp | Síndrome Fine-Lubinsky · Síndrome de braquicefalia-perda auditiva-catarata-perturbação do desenvolvimento intelectual · Síndrome de braquicefalia-surdez-catarata-perturbação do desenvolvimento intelectual |
| pl | Zespół Fine'a i Lubinsky'ego | Krótkogłowie - głuchota - zaćma - niepełnosprawność intelektualna |
| cs | Fineho-Lubinského syndrom | Syndrom zahrnující brachycefalii, hluchotu, kataraktu a mentální retardaci · Fine-Lubinského syndrom |
| uk | Синдром Еме-Гріппа | Синдром брахіцефалії-глухоти-катаракти-інтелектуальної недостатності · Синдром брахіцефалії-втрати слуху-катаракти-інтелектуальної недостатності · Синдром Файн-Любінського |
| zh | AymÚ-Gripp综合征 | 短头畸形-听力丧失-白内障-智力障碍综合征 |
| tr | Aymé-Gripp sendromu | Fine-Lubinsky sendromu · Brakisefali-sağırlık-katarakt-zihinsel yetersizlik sendromu · Brakisefali-işitme kaybı-katarakt-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601088 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011049 | E | validated | |
| MeSH | C537933 | E | validated | |
| UMLS | C0795941 | E | validated | |
| GARD | 958 | 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 (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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:477668OBSOLETE: AymÚ-Gripp syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAF | Disease-causing germline mutation(s) in | Assessed | HGNC:6776 | ENSG00000178573 | 177075 | 16q23.2 | MAF bZIP transcription factor | 25865493[PMID]_8867660[PMID]_8834052[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 19396831[PMID]_19251507[PMID]_25865493[PMID]_28482824[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28482824[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
66 annotations · validated 2019-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012368 | Flat face | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0011333 | Asymmetric crying face | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000248 | Brachycephaly | |
| HP:0012385 | Camptodactyly | |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000519 | Developmental cataract | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002353 | EEG abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0000348 | High forehead | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000239 | Large fontanelles | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0008551 | Microtia | |
| HP:0000160 | Narrow mouth | |
| HP:0000677 | Oligodontia | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0001838 | Rocker bottom foot | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000586 | Shallow orbits | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0003187 | Breast hypoplasia | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0000501 | Glaucoma | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0002680 | J-shaped sella turcica | |
| HP:0000527 | Long eyelashes | |
| HP:0000485 | Megalocornea | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001698 | Pericardial effusion | |
| HP:0001701 | Pericarditis | |
| HP:0000093 | Proteinuria | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0012770 | Reduced arm span | |
| HP:0002650 | Scoliosis | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0005815 | Supernumerary ribs | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19251507[PMID]_25865493[PMID]_19396831[PMID]_17935251[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1272
- This record as JSON: /data/d/1272.json