MOMO syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Number of Symptoms 45
OrphanetNr: 2563
OMIM Id: 157980
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000689) Dental malocclusion 114 / 7739
3
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
4
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
5
 (HPO:0000679) Taurodontia 27 / 7739
6
 (HPO:0000337) Broad forehead 116 / 7739
7
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
8
 (HPO:0000625) Cleft eyelid Frequent [Orphanet] 31 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
10
 (HPO:0000470) Short neck 345 / 7739
11
 (HPO:0000286) Epicanthus 371 / 7739
12
 (HPO:0000316) Hypertelorism 644 / 7739
13
 (HPO:0000431) Wide nasal bridge 290 / 7739
14
 (HPO:0002007) Frontal bossing 366 / 7739
15
 (HPO:0000248) Brachycephaly 222 / 7739
16
 (HPO:0000348) High forehead 157 / 7739
17
 (HPO:0012471) Thick vermilion border 115 / 7739
18
 (HPO:0000319) Smooth philtrum 72 / 7739
19
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
20
 (HPO:0000343) Long philtrum 262 / 7739
21
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
22
 (HPO:0000618) Blindness 124 / 7739
23
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
24
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
25
 (HPO:0000486) Strabismus 576 / 7739
26
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
27
 (HPO:0000480) Retinal coloboma 16 / 7739
28
 (HPO:0008577) Underfolded helix 2 / 7739
29
 (HPO:0001249) Intellectual disability 1089 / 7739
30
 (HPO:0001176) Large hands 43 / 7739
31
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
32
 (HPO:0001833) Long foot 33 / 7739
33
 (HPO:0000879) Short sternum 16 / 7739
34
 (HPO:0001548) Overgrowth 27 / 7739
35
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
36
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
37
 (HPO:0000965) Cutis marmorata 46 / 7739
38
 (HPO:0001795) Hyperconvex nail 13 / 7739
39
 (OMIM) Long smooth philtrum 9 / 7739
40
 (OMIM) Large feet 12 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
 (OMIM) Height >90th percentile 1 / 7739
44
 (OMIM) Simplified helices 1 / 7739
45
 (OMIM) High, broad forehead 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 unrelated patients, a boy and a girl, Moretti-Ferreira et al. (1993) described an overgrowth syndrome characterized by macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of the palpebral fissures, mental retardation, and delayed bone ...