ORPHA:168624
Familial scaphocephaly syndrome, McGillivray type
Synonyms: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial scaphocephaly syndrome, McGillivray type | Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome |
| fr | Scaphocéphalie familiale type McGillivray | Syndrome de scaphocéphalie-macrocéphalie-rétrusion maxillaire-déficience intellectuelle |
| de | Skaphozephalie-Syndrom, familiäres, Typ McGillivray | Skaphokephalie - Makrozephalie - Oberkieferretrusion - Intelligenzminderung · Skaphozephalie-Makrozephalie-Maxillarretrusion-Intelligenzminderung-Syndrom |
| es | Síndrome de escafocefalia familiar tipo McGillivray | Síndrome de escafocefalia-macrocefalia-retrusión maxilar-discapacidad intelectual |
| it | Sindrome da scafocefalia familiare, tipo McGillivray | Sindrome scafocefalia-macrocefalia-retrusione mandibolare-disabilità intellettiva |
| nl | Familiale scafocefalie-syndroom, McGillivray-type | Scafocefalie - macrocefalie - maxillaire retrusie - intellectuele achterstand-syndroom |
| pt | Síndrome de escafocefalia familiar, tipo McGillivray | Síndrome de escafocefalia-macrocefalia-retrusão maxilar-perturbação do desenvolvimento intelectual |
| pl | Rodzinny zespół skafocefalii, typ McGillivray'a | Skafocefalia - makrocefalia - retruzja szczęki - niepełnosprawność intelektualna |
| cs | Familiární skafocefalie, McGillivrayův typ | Syndrom zahrnující skafocefalii, makrocefalii, maxilární retruzi a mentální retardaci |
| uk | Сімейний синдром скафоцефалії, тип МакГіліврея | Синдром скафоцефалії-макроцефалії-максицефалії-щелепної ретрузії- інтелектуальної недостатності |
| zh | McGillivray型家族性舟状头综合征 | 舟状头-大头-上颌后缩-智力障碍综合征 |
| tr | Ailesel sikafosefali sendromu, McGillivray tipi | Sikafosefali-makrosefali-maksiller retrüzyon-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609579 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0012307 | E | validated | |
| UMLS | C4510730 | E | validated | |
| GARD | 3426 | 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:169163Familial scaphocephaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 16061565[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 16061565[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16061565[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| Frequent (79-30%) | ||
| HP:0000268 | Dolichocephaly | |
| HP:0000218 | High palate | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0011800 | Midface retrusion | |
| HP:0010807 | Open bite | |
| Occasional (29-5%) | ||
| HP:0010059 | Broad hallux phalanx | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001770 | Toe syndactyly | |
| HP:0000243 | Trigonocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168624
- This record as JSON: /data/d/168624.json