ORPHA:137634
Overgrowth-macrocephaly-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Overgrowth-macrocephaly-facial dysmorphism syndrome | |
| fr | Syndrome de croissance excessive-macrocéphalie-dysmorphie faciale | |
| de | Großwuchs-Makrozephalie-Gesichtsdysmorphie-Syndrom | Übermäßiges Wachstum, RNF135-abhängig |
| es | Síndrome de sobrecrecimiento-macrocefalia-dismorfia facial | |
| it | Iperaccrescimento - macrocefalia - dismorfismi facciali | Sindrome da iperaccrescimento associato a RNF135 |
| nl | Overgroei - macrocefalie - faciale dysmorfie-syndroom | |
| pt | Síndrome de sobrecrescimento-macrocefalia-dismorfia facial | |
| pl | Przerost - makrocefalia - dysmorfia twarzy | Zespół przerostu związany z RNF135 |
| cs | Syndrom zahrnující nadměrný vzrůst, makrocefalii a faciální dysmorfismus | RNF135-vázaný syndrom s makrosomií |
| uk | Синдром надмірного росту-макроцефалії-лицевого дизморфізму | |
| zh | 生长过度-大头畸形-面部畸形综合征 | |
| tr | Aşırı büyüme-makrosefali-yüz dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| UMLS | C4302813 | 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 (3):
- 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:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNF135 | Disease-causing germline mutation(s) in | Assessed | HGNC:21158 | ENSG00000181481 | 611358 | 17q11.2 | ring finger protein 135 | 17632510[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 17632510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17632510[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
26 annotations · validated 2015-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001520 | Large for gestational age | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0001548 | Overgrowth | |
| HP:0000098 | Tall stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0008058 | Aplasia/Hypoplasia of the optic nerve | |
| HP:0000729 | Autistic behavior | |
| HP:0000267 | Cranial asymmetry | |
| HP:0000365 | Hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000768 | Pectus carinatum | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0011098 | Speech apraxia | |
| HP:0000486 | Strabismus | |
| HP:0012741 | Unilateral cryptorchidism | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 17632510[PMID]_26368817[PMID]_19291764[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137634
- This record as JSON: /data/d/137634.json