MCID: MMS001
MIFTS: 30

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 58 77 54 60
Macrocephaly-Obesity-Mental Disability-Ocular Abnormalities Syndrome 60
Macrosomia-Obesity-Macrocephaly-Ocular Abnormalities Syndrome 60
Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities 58
Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities 54
Macrosomia Obesity Macrocephaly Ocular Abnormalities 74
Macrocrania, Obesity, Ocular Abnormalities 54

Characteristics:

Orphanet epidemiological data:

60
momo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
momo syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Momo Syndrome

NIH Rare Diseases : 54 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 autism and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Momo Syndrome is LINC00237 (Long Intergenic Non-Protein Coding RNA 237). Affiliated tissues include testes, eye and bone, and related phenotypes are obesity and macrocephaly

Wikipedia : 77 MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has... more...

Description from OMIM: 157980

Related Diseases for Momo Syndrome

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

# Related Disease Score Top Affiliating Genes
1 autism 10.1
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 holoprosencephaly 10.1

Symptoms & Phenotypes for Momo Syndrome

Human phenotypes related to Momo Syndrome:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 obligate (100%) Obligate (100%) HP:0001513
2 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
5 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
6 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
7 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
8 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
9 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
10 dental malocclusion 60 33 frequent (33%) Frequent (79-30%) HP:0000689
11 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
12 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
13 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
14 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
15 thick lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000179
16 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
17 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
18 short sternum 60 33 frequent (33%) Frequent (79-30%) HP:0000879
19 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
20 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
21 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
22 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
23 abnormal bone ossification 60 33 frequent (33%) Frequent (79-30%) HP:0011849
24 taurodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000679
25 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
26 thick upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000215
27 large hands 60 33 frequent (33%) Frequent (79-30%) HP:0001176
28 large for gestational age 60 33 frequent (33%) Frequent (79-30%) HP:0001520
29 cutis marmorata 60 33 frequent (33%) Frequent (79-30%) HP:0000965
30 overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0001548
31 femoral bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002980
32 underfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0008577
33 wide nasal base 60 33 frequent (33%) Frequent (79-30%) HP:0012810
34 hyperconvex nail 60 33 frequent (33%) Frequent (79-30%) HP:0001795
35 bilateral microphthalmos 60 33 frequent (33%) Frequent (79-30%) HP:0007633
36 long foot 60 33 frequent (33%) Frequent (79-30%) HP:0001833
37 sound sensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0025112
38 epicanthus 33 frequent (33%) HP:0000286
39 eyelid coloboma 33 frequent (33%) HP:0000625
40 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
41 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
42 congenital pseudoarthrosis of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0006585
43 delayed skeletal maturation 33 HP:0002750
44 wide nasal bridge 33 HP:0000431
45 abnormality of the thyroid gland 60 Excluded (0%)
46 tall stature 60 Occasional (29-5%)
47 cleft eyelid 60 Frequent (79-30%)
48 prominent epicanthal folds 60 Frequent (79-30%)
49 retinal coloboma 33 HP:0000480

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Neck:
short neck

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

Chest Ribs Sternum Clavicles And Scapulae:
short sternum

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 Eyes:
hypertelorism
nystagmus
blindness
strabismus
glaucoma
more
Growth Weight:
obesity

Head And Neck Teeth:
dental malocclusion
taurodontia
delayed dental eruption

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

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:

42
Testes, Eye, Bone, Thyroid

Publications for Momo Syndrome

Articles related to Momo Syndrome:

# Title Authors Year
1
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. ( 22821547 )
2012
2
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. ( 23074680 )
2011
3
A new case of MOMO syndrome. ( 19996736 )
2010
4
MOMO syndrome associated with autism: a case report. ( 19048502 )
2008
5
MOMO syndrome: a possible third case. ( 11045586 )
2000
6
Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. ( 8322820 )
1993

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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