MCID: MMS001
MIFTS: 31

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 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). Affiliated tissues include testes, eye and bone, and related phenotypes are macrocephaly and hypertelorism

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 10.0
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 holoprosencephaly 10.0

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

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
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 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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