MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs: MOMES SYNDROME
Number of Symptoms 20
OrphanetNr:
OMIM Id: 606772
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000506) Telecanthus 156 / 7739
2
(HPO:0000581) Blepharophimosis 197 / 7739
3
(HPO:0000303) Mandibular prognathia 179 / 7739
4
(HPO:0000678) Dental crowding 65 / 7739
5
(HPO:0000256) Macrocephaly 298 / 7739
6
(HPO:0000505) Visual impairment 297 / 7739
7
(HPO:0000484) Hyperopic astigmatism 8 / 7739
8
(HPO:0000565) Esotropia 58 / 7739
9
(HPO:0007663) Reduced visual acuity 100 / 7739
10
(HPO:0000508) Ptosis 459 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0011349) Abducens palsy 7 / 7739
13
(HPO:0000750) Delayed speech and language development 197 / 7739
14
(HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
15
(HPO:0001822) Hallux valgus 70 / 7739
16
(HPO:0010579) Cone-shaped epiphysis 54 / 7739
17
(HPO:0001520) Large for gestational age 34 / 7739
18
(HPO:0001513) Obesity 172 / 7739
19
(HPO:0001047) Atopic dermatitis 20 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kantaputra et al. (2001) reported 2 daughters of a Thai family with mental retardation, obesity, blepharophimosis, blepharoptosis, hyperopic astigmatism, abducens palsy, cone-shaped epiphyses of toes, maxillary hypoplasia, and mandibular prognathism. Chronic atopic dermatitis was also observed. The authors ...
Molecular genetics OMIM Van Haelst et al. (2009) analyzed DNA from the 2 Thai sisters with MOMES syndrome, originally reported by Kantaputra et al. (2001), and identified a 7-Mb deletion of chromosome 4q35.1-qter and a 20-Mb duplication of chromosome 5pter-p14.3 in ...