MCID: MMS001
MIFTS: 28

Momo Syndrome

Categories: Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Momo Syndrome

MalaCards integrated aliases for Momo Syndrome:

Name: Momo Syndrome 57 73 20 58
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 20
Macrosomia Obesity Macrocephaly Ocular Abnormalities 70
Macrocrania, Obesity, Ocular Abnormalities 20

Characteristics:

Orphanet epidemiological data:

58
momo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities


HPO:

31
momo syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Momo Syndrome

GARD : 20 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. MOMO syndrome is very rare, with only about a dozen reported cases in the scientific literature. The exact cause of MOMO syndrome is unknown. One report has identified that the LINC00237 gene may be the cause of MOMO syndrome. 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. Treatment for the syndrome depends on the exact features that each person has.

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

Wikipedia : 73 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 13)
# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.1
2 autism 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 overgrowth syndrome 10.1
5 pseudohypoparathyroidism, type ia 9.9
6 lateral meningocele syndrome 9.9
7 kabuki syndrome 1 9.9
8 cryptorchidism, unilateral or bilateral 9.9
9 autism spectrum disorder 9.9
10 holoprosencephaly 9.9
11 pathologic nystagmus 9.9
12 retinochoroidal coloboma 9.9
13 rare intellectual disability 9.9

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 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 obligate (100%) Obligate (100%) HP:0001513
2 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
10 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
13 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
14 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
15 short sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000879
16 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
17 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
18 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
19 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
20 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
21 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
22 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
23 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
24 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
25 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
26 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
27 thick upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000215
28 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
29 hyperconvex nail 58 31 frequent (33%) Frequent (79-30%) HP:0001795
30 abnormal bone ossification 58 31 frequent (33%) Frequent (79-30%) HP:0011849
31 underfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0008577
32 long foot 58 31 frequent (33%) Frequent (79-30%) HP:0001833
33 overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0001548
34 bilateral microphthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0007633
35 wide nasal base 58 31 frequent (33%) Frequent (79-30%) HP:0012810
36 sound sensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0025112
37 epicanthus 31 frequent (33%) HP:0000286
38 seizure 31 frequent (33%) HP:0001250
39 eyelid coloboma 31 frequent (33%) HP:0000625
40 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
41 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
42 congenital pseudoarthrosis of the clavicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0006585
43 seizures 58 Frequent (79-30%)
44 delayed skeletal maturation 31 HP:0002750
45 wide nasal bridge 31 HP:0000431
46 cleft eyelid 58 Frequent (79-30%)
47 tall stature 58 Occasional (29-5%)
48 abnormality of the thyroid gland 58 Excluded (0%)
49 retinal coloboma 31 HP:0000480
50 prominent epicanthal folds 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Drugs & Therapeutics for Momo Syndrome

Search Clinical Trials , NIH Clinical Center for Momo Syndrome

Genetic Tests for Momo Syndrome

Anatomical Context for Momo Syndrome

MalaCards organs/tissues related to Momo Syndrome:

40
Eye, Bone, Thyroid

Publications for Momo Syndrome

Articles related to Momo Syndrome:

# Title Authors PMID Year
1
A new case of MOMO syndrome. 61 57
19996736 2010
2
MOMO syndrome associated with autism: a case report. 61 57
19048502 2008
3
MOMO syndrome: a possible third case. 57 61
11045586 2000
4
Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. 61 57
8322820 1993
5
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. 20 61
22821547 2012
6
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. 61 20
23034868 2012
7
Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review. 61
31075093 2019
8
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. 61
23074680 2011
9
Genetic obesity syndromes. 61
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....