MCID: BRC097
MIFTS: 24

Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation

Categories: Ear diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

MalaCards integrated aliases for Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:

Name: Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 57
Fine-Lubinsky Syndrome 57 20 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
brachycephaly, deafness, cataract, microstomia, and mental retardation:
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

GARD : 20 Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly ; structural brain abnormalities; abnormal EEG ; intellectual disability ; deafness; eye conditions ( cataracts or glaucoma ); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.

MalaCards based summary : Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation, also known as fine-lubinsky syndrome, is related to hypogonadism-cataract syndrome and branchiootic syndrome 1, and has symptoms including seizures An important gene associated with Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation is MAF (MAF BZIP Transcription Factor). Affiliated tissues include eye and breast, and related phenotypes are scoliosis and microtia

More information from OMIM: 601353

Related Diseases for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Diseases related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism-cataract syndrome 10.6
2 branchiootic syndrome 1 10.6
3 cataract 10.6
4 ayme-gripp syndrome 10.4
5 polyhydramnios 10.4
6 craniosynostosis 10.2
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
8 brachydactyly 10.1
9 synostosis 10.1

Graphical network of the top 20 diseases related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:



Diseases related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation

Symptoms & Phenotypes for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Human phenotypes related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 microtia 31 occasional (7.5%) HP:0008551
3 cryptorchidism 31 occasional (7.5%) HP:0000028
4 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
5 long philtrum 31 occasional (7.5%) HP:0000343
6 megalocornea 31 occasional (7.5%) HP:0000485
7 long eyelashes 31 occasional (7.5%) HP:0000527
8 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
9 shawl scrotum 31 occasional (7.5%) HP:0000049
10 intellectual disability 31 HP:0001249
11 hearing impairment 31 HP:0000365
12 cataract 31 HP:0000518
13 global developmental delay 31 HP:0001263
14 depressed nasal bridge 31 HP:0005280
15 hypertelorism 31 HP:0000316
16 short nose 31 HP:0003196
17 brachycephaly 31 HP:0000248
18 cleft palate 31 HP:0000175
19 flat face 31 HP:0012368
20 growth delay 31 HP:0001510
21 low-set ears 31 HP:0000369
22 narrow mouth 31 HP:0000160
23 brachydactyly 31 HP:0001156
24 thin upper lip vermilion 31 HP:0000219
25 malar flattening 31 HP:0000272
26 tapered finger 31 HP:0001182
27 scrotal hypoplasia 31 HP:0000046
28 rocker bottom foot 31 HP:0001838
29 posteriorly rotated ears 31 HP:0000358
30 cerebral atrophy 31 HP:0002059
31 generalized hypotonia 31 HP:0001290
32 absent axillary hair 31 HP:0002221
33 camptodactyly 31 HP:0012385
34 breast hypoplasia 31 HP:0003187
35 finger clinodactyly 31 HP:0040019
36 shallow orbits 31 HP:0000586
37 seizure 31 HP:0001250
38 pectus excavatum of inferior sternum 31 HP:0000915
39 superior pectus carinatum 31 HP:0000917

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation
hydrocephaly or enlarged ventricles
more
Skeletal Skull:
brachycephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss
small ears (in some patients)
stenotic external auditory canals (in some patients)

Head And Neck Eyes:
shallow orbits
downslanting palpebral fissures (in some patients)
cataracts (in some patients)
long eyelashes (in some patients)
hypertelorism (rare)
more
Growth Other:
growth retardation

Head And Neck Nose:
small nose
flat or depressed nasal bridge

Skin Nails Hair Nails:
abnormal nails

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum and excavatum (rare)

Head And Neck Head:
brachycephaly

Head And Neck Face:
flat face
long philtrum (in some patients)

Skeletal Hands:
brachydactyly
camptodactyly
fifth-finger clinodactyly
tapered fingers

Head And Neck Mouth:
thin upper lip
small mouth
cleft palate (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)
shawl scrotum (rare)

Skeletal Spine:
scoliosis (in some patients)

Chest External Features:
asymmetric thorax (in some patients)

Skeletal Feet:
prominent heels or rocker-bottom feet

Clinical features from OMIM®:

601353 (Updated 05-Apr-2021)

UMLS symptoms related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:


seizures

Drugs & Therapeutics for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Search Clinical Trials , NIH Clinical Center for Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation

Genetic Tests for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Anatomical Context for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

MalaCards organs/tissues related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:

40
Eye, Breast

Publications for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Articles related to Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation:

# Title Authors PMID Year
1
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. 61 20 57
17394214 2007
2
Further clinical delineation of Fine-Lubinsky syndrome. 57 61
19396831 2009
3
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. 57 61
18417983 2008
4
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 57
25865493 2015
5
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. 61 20
8867660 1996
6
A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. 57
7508318 1993
7
Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures. 57
6587014 1984
8
Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. 57
6432966 1983
9
Fine-Lubinsky syndrome: managing the rare syndromic synostosis. 61
19251507 2010
10
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. 61
12072800 2002

Variations for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Expression for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Search GEO for disease gene expression data for Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation.

Pathways for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

GO Terms for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

Sources for Brachycephaly, Deafness, Cataract, Microstomia, and Mental...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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