MCID: MMS001
MIFTS: 29

Momo Syndrome

Categories: Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Momo Syndrome

MalaCards integrated aliases for Momo Syndrome:

Name: Momo Syndrome 57 19 58 75
Macrocephaly-Obesity-Mental Disability-Ocular Abnormalities Syndrome 58
Macrosomia-Obesity-Macrocephaly-Ocular Abnormalities Syndrome 58
Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities 57
Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities 19
Macrosomia Obesity Macrocephaly Ocular Abnormalities 71
Macrocrania, Obesity, Ocular Abnormalities 19

Characteristics:


Inheritance:

Autosomal recessive 58 , Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Momo Syndrome

GARD: 19 MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has not been reported in all affected individuals. The exact cause of MOMO syndrome is unknown. Both autosomal dominant and autosomal recessive inheritance patterns have been suggested. MOMO syndrome is diagnosed when a doctor observes signs consistent with the syndrome. Tests may be completed to rule out other genetic syndromes.

MalaCards based summary: Momo Syndrome, also known as macrocephaly-obesity-mental disability-ocular abnormalities syndrome, is related to smith-magenis syndrome and coloboma of macula. An important gene associated with Momo Syndrome is LINC00237 (Long Intergenic Non-Protein Coding RNA 237). Affiliated tissues include thyroid, bone and eye, and related phenotypes are obesity and macrocephaly

Orphanet: 58 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) 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.

Wikipedia: 75 MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has... more...

More information from OMIM: 157980

Related Diseases for Momo Syndrome

Diseases related to Momo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 smith-magenis syndrome 10.3
2 coloboma of macula 10.1
3 retinochoroidal coloboma 10.1
4 overgrowth syndrome 10.1
5 pseudohypoparathyroidism, type ia 10.0
6 coloboma of optic nerve 10.0
7 lateral meningocele syndrome 10.0
8 kabuki syndrome 1 10.0
9 autism 10.0
10 cryptorchidism, unilateral or bilateral 10.0
11 leptin deficiency or dysfunction 10.0
12 autism spectrum disorder 10.0
13 holoprosencephaly 10.0
14 pathologic nystagmus 10.0
15 notch3-related lateral meningocele syndrome 10.0
16 rare intellectual disability 10.0

Graphical network of the top 20 diseases related to Momo Syndrome:



Diseases related to Momo Syndrome

Symptoms & Phenotypes for Momo Syndrome

Human phenotypes related to Momo Syndrome:

58 30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 30 Obligate (100%) Obligate (100%)
HP:0001513
2 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
3 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
4 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
5 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
6 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
7 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
8 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
9 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
10 dental malocclusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000689
11 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000319
12 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
13 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000248
14 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000179
15 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
16 short sternum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000879
17 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
18 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
19 chorioretinal coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000567
20 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
21 eyelid coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000625
22 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
23 taurodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000679
24 broad forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000337
25 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
26 large hands 58 30 Frequent (33%) Frequent (79-30%)
HP:0001176
27 large for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001520
28 cutis marmorata 58 30 Frequent (33%) Frequent (79-30%)
HP:0000965
29 thick upper lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000215
30 femoral bowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002980
31 hyperconvex nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001795
32 abnormal bone ossification 58 30 Frequent (33%) Frequent (79-30%)
HP:0011849
33 underfolded helix 58 30 Frequent (33%) Frequent (79-30%)
HP:0008577
34 long foot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001833
35 overgrowth 58 30 Frequent (33%) Frequent (79-30%)
HP:0001548
36 bilateral microphthalmos 58 30 Frequent (33%) Frequent (79-30%)
HP:0007633
37 wide nasal base 58 30 Frequent (33%) Frequent (79-30%)
HP:0012810
38 sound sensitivity 58 30 Frequent (33%) Frequent (79-30%)
HP:0025112
39 epicanthus 30 Frequent (33%) HP:0000286
40 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
41 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
42 congenital pseudoarthrosis of the clavicle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006585
43 delayed skeletal maturation 30 HP:0002750
44 wide nasal bridge 30 HP:0000431
45 tall stature 58 Occasional (29-5%)
46 abnormality of the thyroid gland 58 Excluded (0%)
47 retinal coloboma 30 HP:0000480
48 prominent epicanthal folds 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Eyes:
nystagmus
hypertelorism
blindness
strabismus
glaucoma
more
Head And Neck Teeth:
dental malocclusion
taurodontia
delayed dental eruption

Growth Weight:
obesity

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Mouth:
high-arched palate
thick lips

Skeletal:
delayed bone age

Skin Nails Hair Nails:
hyperconvex nails

Growth Height:
height >90th percentile

Skeletal Skull:
macrocrania

Head And Neck Face:
frontal bossing
high, broad forehead
long, smooth philtrum

Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
short sternum

Skeletal Hands:
large hands

Growth Other:
overgrowth

Skeletal Feet:
large feet

Neurologic Central Nervous System:
mental retardation

Head And Neck Nose:
broad nasal root

Head And Neck Ears:
simplified helices

Clinical features from OMIM®:

157980 (Updated 08-Dec-2022)

Drugs & Therapeutics for Momo Syndrome

Search Clinical Trials, NIH Clinical Center for Momo Syndrome

Genetic Tests for Momo Syndrome

Anatomical Context for Momo Syndrome

Organs/tissues related to Momo Syndrome:

MalaCards : Thyroid, Bone, Eye

Publications for Momo Syndrome

Articles related to Momo Syndrome:

# Title Authors PMID Year
1
A new case of MOMO syndrome. 62 57
19996736 2010
2
MOMO syndrome associated with autism: a case report. 62 57
19048502 2008
3
MOMO syndrome: a possible third case. 62 57
11045586 2000
4
Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. 62 57
8322820 1993
5
Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review. 62
31075093 2019
6
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. 62
23034868 2012
7
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. 62
22821547 2012
8
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. 62
23074680 2011
9
Genetic obesity syndromes. 62
18230893 2008

Variations for Momo Syndrome

Expression for Momo Syndrome

Search GEO for disease gene expression data for Momo Syndrome.

Pathways for Momo Syndrome

GO Terms for Momo Syndrome

Sources for Momo Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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