Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | |
| fr | Syndrome de croissance excessive-mégalencéphalie-cyphoscoliose sévère | |
| de | Megalenzephalie-schwere Kyphoskoliose-Großwuchs-Syndrom | |
| es | Síndrome de megalencefalia-cifoscoliosis grave-sobrecrecimiento | |
| it | Sindrome megalencefalia - cifoscoliosi grave - iperaccrescimento | |
| nl | Megalencefalie - ernstige kyfoscoliose - overgroei-syndroom | |
| pt | Síndrome de megalencefalia-cifoescoliose grave-sobrecrescimento | |
| pl | Zespół mózgu olbrzymiego, ciężkiej kifoskoliozy i przerostu | |
| cs | Syndrom zahrnující megalencefalii, těžkou kyfoskoliózu a nadměrný růst | |
| uk | Синдром мегаленцефалії-тяжкого кіфосколіозу-надмірного росту | |
| zh | 巨颅畸形-严重脊柱后凸-过度生长综合征 | |
| tr | Megalensefali-ağır kifoskolyoz-aşırı büyüme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617011 | NTBT | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0018710 | E | validated | |
| UMLS | C5681123 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HERC1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4867 | ENSG00000103657 | 605109 | 15q22.31 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 26138117[PMID]_27108999[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26138117[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26138117[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.
HPO phenotypes
54 annotations · validated 2019-12-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0011229 | Broad eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000276 | Long face | |
| HP:0001548 | Overgrowth | |
| HP:0011220 | Prominent forehead | |
| HP:0045075 | Sparse eyebrow | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001344 | Absent speech | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002307 | Drooling | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001520 | Large for gestational age | |
| HP:0001833 | Long foot | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001355 | Megalencephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0001533 | Slender build | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0001555 | Asymmetry of the thorax | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0000297 | Facial hypotonia | |
| HP:0011003 | High myopia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000472 | Long neck | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000272 | Malar flattening | |
| HP:0011330 | Metopic synostosis | |
| HP:0000054 | Micropenis | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001763 | Pes planus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0006863 | Severe expressive language delay | |
| HP:0000586 | Shallow orbits | |
| HP:0007074 | Thick corpus callosum | |
| HP:0000325 | Triangular face | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26138117[PMID]_26153217[PMID]_27108999[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457359
- This record as JSON: /data/d/457359.json