Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Synonyms: MOMES syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | MOMES syndrome |
| fr | Syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées | Syndrome MOMES |
| de | Intelligenzminderung-Adipositas-Prognathie-Augen- und Hautanomalien-Syndrom | MOMES-Syndrom |
| es | Síndrome de discapacidad intelectual-obesidad-prognatismo-anomalías oculares y cutáneas | Síndrome MOMES |
| it | Sindrome disabilità intellettiva-obesità -prognatismo-anomalie oculari e cutanee | Sindrome MOMES |
| nl | Intellectuele achterstand - obesitas - prognathie - oog- en huidanomalieën-syndroom | MOMES-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-obesidade-prognatismo-anomalias oculares e cutâneas | Síndrome MOMES |
| pl | Zespół niepełnosprawność intelektualna - otyłość - prognatyzm - wady oczu i skóry | Zespół MOMES |
| cs | Syndrom zahrnující mentální retardaci, obezitu, prognácii a anomálie očí a kůže | MOMES syndrom |
| uk | Синдром інтелектуальної недостатності-ожиріння-прогнатизму-аномалій очей та шкіри | Синдром MOMES |
| zh | 智力障碍-肥胖-下颌前凸-眼及皮肤异常综合征 | MOMES综合征 |
| tr | Zihinsel yetersizlik-obezite-öne çıkık çene-göz ve cilt anomalileri sendromu | MOMES sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606772 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011722 | E | validated | |
| MeSH | C564660 | E | validated | |
| UMLS | C1847522 | 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: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 | 2 cases | Worldwide | Case(s) | Validated | 11746007[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11746007[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
27 annotations · validated 2019-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006897 | Abducens palsy | |
| HP:0001047 | Atopic dermatitis | |
| HP:0000581 | Blepharophimosis | |
| HP:0010164 | Cone-shaped epiphyses of the toes | |
| HP:0006333 | Crowded maxillary incisors | |
| HP:0000565 | Esotropia | |
| HP:0001822 | Hallux valgus | |
| HP:0000484 | Hyperopic astigmatism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001513 | Obesity | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0100046 | Cone-shaped epiphyses of the 2nd toe | |
| HP:0100057 | Cone-shaped epiphyses of the 3rd toe | |
| HP:0100068 | Cone-shaped epiphyses of the 4th toe | |
| HP:0001609 | Hoarse voice | |
| HP:0000752 | Hyperactivity | |
| HP:0100271 | Hyponasal speech | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0002690 | Large sella turcica | |
| HP:0000256 | Macrocephaly | |
| HP:0007663 | Reduced visual acuity | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
Annotation source: 19288561[PMID]_11746007[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397973
- This record as JSON: /data/d/397973.json