ORPHA:3363
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Synonyms: Long eyelashes-intellectual disability syndrome · Oliver-McFarlane syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | Long eyelashes-intellectual disability syndrome · Oliver-McFarlane syndrome |
| fr | Syndrome de trichomégalie-dégénérescence rétinienne pigmentaire-retard de croissance | Syndrome d'Oliver-McFarlane · Syndrome de cils longs-déficience intellectuelle |
| de | Trichomegalie-Retina-Pigmentdegeneration-Kleinwuchs-Syndrom | Oliver-McFarlane-Syndrom · Syndrom der langen Wimpern mit Intelligenzminderung |
| es | Síndrome de tricomegalia-degeneración retiniana pigmentaria-talla baja significativa | Síndrome de Oliver-MacFarlane · Síndrome de pestañas largas-discapacidad intelectual |
| it | Sindrome tricomegalia-retinite pigmentosa-nanismo | Sindrome ciglia lunghe-disabilità intellettiva · Sindrome di Oliver-McFarlane |
| nl | Trichomegalie - retinale pigmentdegeneratie - dwerggroei-syndroom | Lange wimpers - intellectuele achterstand-syndroom · Syndroom van Oliver-McFarlane |
| pt | Síndrome de tricomegalia-degenerescência pigmentosa da retina-nanismo | Síndrome Oliver-McFarlane · Síndrome de pestanas longas-perturbação do desenvolvimento intelectual |
| pl | Trichomegalia- zwyrodnienie barwnikowe siatkówki - karłowatość | Długie rzęsy - niepełnosprawność intelektualna · Zespół Olivera i McFarlane'a |
| cs | Syndrom zahrnující trichomegalii, pigmentovou degeneraci sítnice a trpaslictví | Syndrom zahrnující dlouhé oční řasy a mentální retardaci · Oliverův-McFarlaneův syndrom · Oliver-McFarlaneův syndrom |
| uk | Синдром трихомегалії - пігментної дегенерації сітківки - карликовості | Синдром довгихі вій - інтелектуальної недостатності · Синдром Олівера-Макфарлейна |
| zh | 睫毛粗长症-视网膜色素变性-矮小综合征 | 长睫毛-智力障碍综合征 |
| tr | Trikomegali-retina pigmenter dejenerasyon-cücelik sendromu | Oliver-McFarlane sendromu · Uzun kirpikler-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275400 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010152 | E | validated | |
| MeSH | C536554 | E | validated | |
| UMLS | C1848745 | E | validated | |
| GARD | 5266 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16268 | ENSG00000032444 | 603197 | 19p13.2 | patatin like domain 6, lysophospholipase | 25480986[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 25480986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25480986[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
22 annotations · validated 2022-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000546 | Retinal degeneration | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0001251 | Ataxia | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0000135 | Hypogonadism | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0001518 | Small for gestational age | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000028 | Cryptorchidism | |
| HP:0002007 | Frontal bossing | |
| HP:0000054 | Micropenis | |
| HP:0000545 | Myopia | |
| Very rare (<4-1%) | ||
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 33818269[PMID]_32586184[PMID]_25574898[PMID]_32758583[PMID]_16152639[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3363
- This record as JSON: /data/d/3363.json