MOMO syndrome
Synonyms: Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MOMO syndrome | Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome |
| fr | Syndrome MOMO | Syndrome de macrocéphalie-obésité-déficience intellectuelle-anomalies oculaires · Syndrome de macrosomie-obésité-macrocéphalie-anomalies oculaires |
| de | MOMO-Syndrom | Makrosomie-Adipositas-Intelligenzminderung-Augenanomalie-Syndrom · Makrosomie-Adipositas-Makrozephalie-Augenanomalie-Syndrom |
| es | Síndrome MOMO | Síndrome de macrocefalia-obesidad-discapacidad intelectual-anomalías oculares · Síndrome de macrosomia-obesidad-macrocefalia-anomalías oculares |
| it | Sindrome MOMO | Sindrome macrocefalia-obesità-disabilità mentale-anomalie oculari · Sindrome macrosomia-obesità-macrocefalia-anomalie oculari · Sindrome macrocefalia-obesità-disabilità intellettiva-anomalie oculari |
| nl | MOMO-syndroom | Macrocefalie - obesitas - intellectuele achterstand - oogafwijkingen-syndroom · Macrosomie - obesitas - macrocefalie - oculaire afwijkingen-syndroom |
| pt | Síndrome MOMO | Síndrome oculo-dento-digital · Displasia ósseo-oculo-dentária · Síndrome Meyer-Schwickerath-Weyers · Síndrome ODDD · Síndrome ODOD · Síndrome de macrocefalia-obesidade-perturbação do desenvolvimento intelectual-anomalias oculares · Síndrome de macrossomia-obesidade-macrocefalia-anomalias oculares |
| pl | Zespół MOMO | Zespół makrocefalii, otyłości, niepełnosprawności intelektualnej i nieprawidłowości oczu · Zespół makrosomii, otyłości, makrocefalii i nieprawidłowości oczu |
| cs | MOMO syndrom | Syndrom zahrnující makrocefalii, obezitu, mentální retardaci a okulární abnormality · Syndrom zahrnující makrosomii, obezitu, makrocefalii a okulární abnormality |
| uk | Синдром МОМО | Синдром макроцефалії-ожиріння-розумової відсталості- очних аномалій · Синдром макросомії-ожиріння-макроцефалії-очних аномалій |
| zh | MOMO综合征 | 巨头畸形-肥胖-智力缺陷-眼畸形综合征 |
| tr | MOMO sendromu | Makrozomi-obezite-makrosefali-oküler anormallikler sendromu · Makrosefali-obezite-zihinsel yetersizlik-oküler anormallikler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157980 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0008008 | E | validated | |
| MeSH | C535812 | E | validated | |
| UMLS | C1834759 | E | validated | |
| GARD | 178 | 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 (1):
- ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23034868[PMID]_22821547[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.
HPO phenotypes
44 annotations · validated 2017-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000965 | Cutis marmorata | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002980 | Femoral bowing | |
| HP:0002007 | Frontal bossing | |
| HP:0000501 | Glaucoma | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0001795 | Hyperconvex nail | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001520 | Large for gestational age | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0000343 | Long philtrum | |
| HP:0000256 | Macrocephaly | |
| HP:0000639 | Nystagmus | |
| HP:0001548 | Overgrowth | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000879 | Short sternum | |
| HP:0000319 | Smooth philtrum | |
| HP:0025112 | Sound sensitivity | |
| HP:0000486 | Strabismus | |
| HP:0000679 | Taurodontia | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0008577 | Underfolded helix | |
| HP:0012810 | Wide nasal base | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0000618 | Blindness | |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle | |
| HP:0000098 | Tall stature | |
| Excluded (0%) | ||
| HP:0000820 | Abnormality of the thyroid gland | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8322820[PMID]_22821547[PMID]_11045586[PMID]_23034868[PMID]_19048502[PMID]_19996736[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2563
- This record as JSON: /data/d/2563.json