MCID: MMS001
MIFTS: 30

Momo Syndrome

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

Aliases & Classifications for Momo Syndrome

MalaCards integrated aliases for Momo Syndrome:

Name: Momo Syndrome 57 76 53 59
Macrocephaly-Obesity-Mental Disability-Ocular Abnormalities Syndrome 59
Macrosomia-Obesity-Macrocephaly-Ocular Abnormalities Syndrome 59
Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities 57
Macrosomia, Obesity, Macrocephaly, Ocular Abnormalities 53
Macrosomia Obesity Macrocephaly Ocular Abnormalities 73
Macrocrania, Obesity, Ocular Abnormalities 53

Characteristics:

Orphanet epidemiological data:

59
momo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
momo syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Momo Syndrome

NIH Rare Diseases : 53 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
LINC00237 could play a role in the pathogenesis of this syndrome and could provide new insights into hyperphagia related obesity and intellectual disability
Dysfunction Pattern: Regulation). Affiliated tissues include eye, testes and bone, and related phenotypes are obesity and thick lower lip vermilion

Wikipedia : 76 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 9.9
2 alacrima, achalasia, and mental retardation syndrome 9.9
3 holoprosencephaly 9.9

Symptoms & Phenotypes for Momo Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Momo Syndrome:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 obligate (100%) Obligate (100%) HP:0001513
2 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
3 thick upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000215
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
6 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
7 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
8 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
9 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
10 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
11 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
12 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
13 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
14 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
15 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
16 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
17 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
18 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
19 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
20 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
21 short sternum 59 32 frequent (33%) Frequent (79-30%) HP:0000879
22 cutis marmorata 59 32 frequent (33%) Frequent (79-30%) HP:0000965
23 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
24 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
25 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
26 large for gestational age 59 32 frequent (33%) Frequent (79-30%) HP:0001520
27 overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0001548
28 hyperconvex nail 59 32 frequent (33%) Frequent (79-30%) HP:0001795
29 long foot 59 32 frequent (33%) Frequent (79-30%) HP:0001833
30 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
31 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
32 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
33 bilateral microphthalmos 59 32 frequent (33%) Frequent (79-30%) HP:0007633
34 underfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0008577
35 abnormal bone ossification 59 32 frequent (33%) Frequent (79-30%) HP:0011849
36 wide nasal base 59 32 frequent (33%) Frequent (79-30%) HP:0012810
37 sound sensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0025112
38 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
39 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
40 congenital pseudoarthrosis of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0006585
41 cleft eyelid 59 Frequent (79-30%)
42 prominent epicanthal folds 59 Frequent (79-30%)
43 tall stature 59 Occasional (29-5%)
44 abnormality of the thyroid gland 59 Excluded (0%)
45 epicanthus 32 frequent (33%) HP:0000286
46 wide nasal bridge 32 HP:0000431
47 retinal coloboma 32 HP:0000480
48 eyelid coloboma 32 frequent (33%) HP:0000625
49 delayed skeletal maturation 32 HP:0002750

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:

41
Eye, Testes, 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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