ORPHA:2554
Ear-patella-short stature syndrome
Synonyms: Meier-Gorlin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ear-patella-short stature syndrome | Meier-Gorlin syndrome |
| fr | Syndrome de microtie-anomalies squelettiques-petite taille | Syndrome de Meier-Gorlin |
| de | Ohr-Patella-Kleinwuchs-Syndrom | Meier-Gorlin-Syndrom |
| es | Síndrome de oreja-rótula-talla baja | Síndrome de Meier-Gorlin |
| it | Sindrome microtia-agenesia delle rotule-bassa statura | Sindrome di Meier-Gorlin |
| nl | Oor - patella - kleine gestalte-syndroom | Syndroom van Meier-Gorlin |
| pt | Síndrome orelha-rótula-baixa estatura | Síndrome Meier-Gorlin |
| pl | Zespół ucho - rzepka - niski wzrost | Zespół Meiera i Gorlina |
| cs | Syndrom ucho-čéška-nízký vzrůst | Meierův-Gorlinův syndrom · Meier-Gorlinův syndrom |
| uk | Синдром вушної раковини та низького зросту | Синдром Майєра-Горліна |
| zh | 耳-髌骨-身材矮小综合征 | Meier-Gorlin 综合征 |
| tr | Kulak-patella-kısa boy sendromu | Meier-Gorlin sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224690 | BTNT | validated | |
| OMIM | 613800 | BTNT | validated | |
| OMIM | 613803 | BTNT | validated | |
| OMIM | 613804 | BTNT | validated | |
| OMIM | 613805 | BTNT | validated | |
| OMIM | 616835 | BTNT | validated | |
| OMIM | 617063 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.JY | NTBT | index | validated |
| MONDO | 0016817 | E | validated | |
| MeSH | C538012 | E | validated | |
| UMLS | C1868684 | E | validated | |
| GARD | 2033 | E | validated | |
| MedDRA | 10070612 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GMNN | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:17493 | ENSG00000112312 | 602842 | 6p22.3 | geminin DNA replication inhibitor | 26637980[PMID] |
| CDC45 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1739 | ENSG00000093009 | 603465 | 22q11.21 | cell division cycle 45 | 27374770[PMID] |
| CDC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1744 | ENSG00000094804 | 602627 | 17q21.2 | cell division cycle 6 | 23516378[PMID]_21358632[PMID] |
| CDT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24576 | ENSG00000167513 | 605525 | 16q24.3 | chromatin licensing and DNA replication factor 1 | 23516378[PMID]_21358632[PMID] |
| ORC1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8487 | ENSG00000085840 | 601902 | 1p32.3 | origin recognition complex subunit 1 | 23516378[PMID]_21358632[PMID] |
| ORC4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8490 | ENSG00000115947 | 603056 | 2q23.1 | origin recognition complex subunit 4 | 23516378[PMID]_21358632[PMID] |
| ORC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17151 | ENSG00000091651 | 607213 | 16q11.2 | origin recognition complex subunit 6 | 23516378[PMID]_21358632[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 67 cases | Worldwide | Case(s) | Validated | 26381604[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26381604[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.
6
HPO phenotypes
49 annotations · validated 2017-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0009892 | Anotia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0009939 | Mandibular aplasia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011267 | Microtia, third degree | |
| HP:0000160 | Narrow mouth | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0003100 | Slender long bone | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0006660 | Aplastic clavicles | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0001363 | Craniosynostosis | |
| HP:0002094 | Dyspnea | |
| HP:0002705 | High, narrow palate | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0000369 | Low-set ears | |
| HP:0006443 | Patellar aplasia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| Occasional (29-5%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0100783 | Breast aplasia | |
| HP:0000175 | Cleft palate | |
| HP:0003042 | Elbow dislocation | |
| HP:0000039 | Epispadias | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0001328 | Specific learning disability | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0012471 | Thick vermilion border | |
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/2554
- This record as JSON: /data/d/2554.json