ORPHA:2095
Gorlin-Chaudhry-Moss syndrome
Synonyms: Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome · Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome · GCM syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gorlin-Chaudhry-Moss syndrome | Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome · Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome · GCM syndrome |
| fr | Syndrome de Gorlin-Chaudhry-Moss | Syndrome de dysostose craniofaciale-anomalies génitales, dentaires et cardiaques |
| de | Gorlin-Chaudhry-Moss-Syndrom | GCM-Syndrom · Kraniofaziale Dysostose mit genitaler, dentaler und kardialer Anomalie · Kraniofaziale Dysostose-Hypertrichose-Hypoplasie der Labia majora-Syndrom |
| es | Síndrome de Gorlin-Chaudhry-Moss | Síndrome de GCM · Síndrome de anomalías dentales y oculares-ductus arterioso persistente-inteligencia normal · Síndrome de disostosis craneofacial-anomalías genitales-dentales-cardíacas · Síndrome de disostosis craneofacial-hipertricosis-hipoplasia de los labios mayores |
| it | Sindrome di Gorlin-Chaudhry-Moss | Sindrome GCM · Sindrome anomalie dentali e oculari-dotto arterioso pervio-intelligenza normale · Sindrome disostosi craniofacciale-anomalie genitali, dentali e cardiache · Sindrome disostosi craniofacciale-ipertricosi-ipoplasia delle grandi labbra |
| nl | Syndroom van Gorlin-Chaudhry-Moss | Craniofaciale dysostose - genitale, dentale en cardiale anomalieën-syndroom · Craniofaciale dysostose - hypertrichose - hypoplasie van labia majora-syndroom · GCM-syndroom · Tand- en ooganomalieën - persisterende ductus arteriosus - normale intelligentie-syndroom |
| pt | Síndrome Gorlin-Chaudry-Moss | Síndrome de disostose craniofacial-anomalias genito-dento-cardíacas |
| pl | Zespół Gorlina, Chaudhry i Mossa | Dyzostoza czaszkowo-twarzowa - wady narządów płciowych, zębów i serca |
| cs | Gorlinův-Chaudhryho-Mossův syndrom | GCM syndrom · Syndrom zahrnující kraniofaciální dysostózu a genitální, dentální a srdeční vady · Syndrom zahrnující kraniofaciální dysostózu, hypertrichózu a hypoplázii velkých stydkých pysků · Syndrom zahrnující dentální a oční anomálie, patentní ductus arteriosus a normální inteligenci · Gorlin-Chaudhry-Mossův syndrom |
| uk | Синдром Горліна-Чодрі-Мосса | Черепно-лицьовий дизостоз - синдром генітальних, зубних, серцевих аномалій · Синдром краніофаціального дизостозу-гіпертрихозу-гіпоплазії великих статевих губ · Синдром зубних та очних аномалій - відкритої артеріальної протоки - нормального інтелекту · Синдром GCM |
| zh | Gorlin-Chaudhry-Moss综合征 | 牙眼异常-动脉导管未闭-智力正常综合征 |
| tr | Gorlin-Chaudhry-Moss sendromu | GCM sendromu · Kraniyofasiyal dizostoz-genital, diş, kalp anomalileri sendromu · Kranofasiyal dizostoz-hipertrikoz-labia majora sendromu hipoplazisi · Diş ve göz anomalileri-patent duktus arteriyozus-normal zeka sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612289 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | index | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| UMLS | C5848089 | E | validated | |
| GARD | 66 | 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 (1):
- ORPHA:697101Fontaine progeroid syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A24 | Disease-causing germline mutation(s) in | Assessed | HGNC:20662 | ENSG00000085491 | 608744 | 1p13.3 | solute carrier family 25 member 24 | 29100093[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23686885[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000248 | Brachycephaly | |
| HP:0002208 | Coarse hair | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0008497 | Congenital craniofacial dysostosis | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0000294 | Low anterior hairline | |
| HP:0000639 | Nystagmus | |
| HP:0000677 | Oligodontia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0010940 | Aplasia/Hypoplasia of the nasal bone | |
| HP:0000483 | Astigmatism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000647 | Sclerocornea | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0000636 | Upper eyelid coloboma | |
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/2095
- This record as JSON: /data/d/2095.json