LAMSHF
MCID: LMB069
MIFTS: 31

Lamb-Shaffer Syndrome (LAMSHF)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Name: Lamb-Shaffer Syndrome 56 58 73 36 29 6
Lamshf 56 73
Developmental and Speech Delay Due to Sox5 Deficiency 58
Sox5 Haploinsufficiency Syndrome 58
12p12.1 Microdeletion Syndrome 58
Syndrome, Lamb-Shaffer 39
Monosomy 12p12.1 58
Del(12)(p12.1) 58

Characteristics:

Orphanet epidemiological data:

58
developmental and speech delay due to sox5 deficiency
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
12p12.1 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31
lamb-shaffer syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lamb-Shaffer Syndrome

KEGG : 36 Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.

MalaCards based summary : Lamb-Shaffer Syndrome, also known as lamshf, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Lamb-Shaffer Syndrome is SOX5 (SRY-Box Transcription Factor 5). Affiliated tissues include brain and tongue, and related phenotypes are intellectual disability and motor delay

OMIM : 56 Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015). (616803)

UniProtKB/Swiss-Prot : 73 Lamb-Shaffer syndrome: An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.

Wikipedia : 74 Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by... more...

Related Diseases for Lamb-Shaffer Syndrome

Diseases related to Lamb-Shaffer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 obligate (100%) Obligate (100%) HP:0001249
2 motor delay 58 31 obligate (100%) Obligate (100%) HP:0001270
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 hyperplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0430028
5 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
6 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
7 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
8 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
11 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
12 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
13 vertebral fusion 58 31 frequent (33%) Frequent (79-30%) HP:0002948
14 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
15 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
16 abnormality of brain morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012443
17 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
18 exaggerated median tongue furrow 58 31 frequent (33%) Frequent (79-30%) HP:0002711
19 thoracic kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0005659
20 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
21 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
22 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
23 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
24 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
25 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
26 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
27 butterfly vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0003316
28 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
29 pes planus 31 occasional (7.5%) HP:0001763
30 long hallux 31 occasional (7.5%) HP:0001847
31 vertebral clefting 31 occasional (7.5%) HP:0008428
32 long fingers 31 occasional (7.5%) HP:0100807
33 overlapping toe 31 occasional (7.5%) HP:0001845
34 seizure 31 occasional (7.5%) HP:0001250
35 scoliosis 58 31 Occasional (29-5%) HP:0002650
36 strabismus 58 31 Frequent (79-30%) HP:0000486
37 global developmental delay 31 HP:0001263
38 depressed nasal bridge 31 HP:0005280
39 wide nasal bridge 31 HP:0000431
40 seizures 58 Occasional (29-5%)
41 low-set ears 31 HP:0000369
42 epicanthus 31 HP:0000286
43 downslanted palpebral fissures 31 HP:0000494
44 open mouth 31 HP:0000194
45 facial asymmetry 31 HP:0000324
46 bulbous nose 31 HP:0000414
47 posteriorly rotated ears 31 HP:0000358
48 generalized hypotonia 31 HP:0001290
49 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
poor speech development

Head And Neck Face:
frontal bossing
facial asymmetry

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
clinodactyly
long fingers (in some patients)

Skeletal Spine:
scoliosis (in some patients)
vertebral clefts (in some patients)

Skeletal Feet:
flat feet (in some patients)
long halluces (in some patients)
overlapping toes (in some patients)

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures
epicanthal folds

Head And Neck Mouth:
open mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic features

Clinical features from OMIM:

616803

Drugs & Therapeutics for Lamb-Shaffer Syndrome

Search Clinical Trials , NIH Clinical Center for Lamb-Shaffer Syndrome

Genetic Tests for Lamb-Shaffer Syndrome

Genetic tests related to Lamb-Shaffer Syndrome:

# Genetic test Affiliating Genes
1 Lamb-Shaffer Syndrome 29 SOX5

Anatomical Context for Lamb-Shaffer Syndrome

MalaCards organs/tissues related to Lamb-Shaffer Syndrome:

40
Brain, Tongue

Publications for Lamb-Shaffer Syndrome

Articles related to Lamb-Shaffer Syndrome:

# Title Authors PMID Year
1
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. 56 6
26111154 2015
2
Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. 56 6
23498568 2013
3
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. 56 6
23220431 2013
4
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. 6 56
22290657 2012
5
A copy number variation morbidity map of developmental delay. 56
21841781 2011
6
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. 61
31578471 2020
7
Roles and regulation of SOX transcription factors in skeletogenesis. 61
30902252 2019
8
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. 61
29477873 2018

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

6 (show all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX5 NM_006940.6(SOX5):c.1597+2T>ASNV Pathogenic 449233 rs1555141265 12:23699248-23699248 12:23546314-23546314
2 SOX5 NM_006940.6(SOX5):c.747_748del (p.Arg250fs)deletion Pathogenic 522101 rs1555301854 12:23887680-23887681 12:23734746-23734747
3 SOX5 NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)SNV Pathogenic 545592 rs1555307370 12:23893920-23893920 12:23740986-23740986
4 BCAT1 , C12orf77 , C2CD5 , ETNK1 , IRAG2 , SOX5 GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1copy number loss Pathogenic 666436 12:22602778-25225668
5 SOX5 NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)SNV Pathogenic 695082 12:23696303-23696303 12:23543369-23543369
6 SOX5 GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1copy number loss Pathogenic 695076 12:23685093-23728869
7 SOX5 NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)SNV Pathogenic 695081 12:23716203-23716203 12:23563269-23563269
8 SOX5 NM_006940.6(SOX5):c.1465dup (p.Leu489fs)duplication Pathogenic 695080 12:23716214-23716215 12:23563280-23563281
9 SOX5 NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)SNV Pathogenic 695079 12:23716269-23716269 12:23563335-23563335
10 SOX5 NM_006940.6(SOX5):c.820C>T (p.Gln274Ter)SNV Pathogenic 695078 12:23818489-23818489 12:23665555-23665555
11 SOX5 NM_006940.6(SOX5):c.518G>A (p.Trp173Ter)SNV Pathogenic 695077 12:23908622-23908622 12:23755688-23755688
12 SOX5 GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1copy number loss Pathogenic 695070 12:24102502-24173232
13 SOX5 GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1copy number loss Pathogenic 695071 12:23723120-23908799
14 SOX5 GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1copy number loss Pathogenic 695072 12:23147341-23893799
15 SOX5 GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1copy number loss Pathogenic 695073 12:23457173-25177321
16 SOX5 GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1copy number loss Pathogenic 695074 12:23773664-23893799
17 SOX5 GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1copy number loss Pathogenic 695075 12:23718347-23769414
18 SOX5 NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter)SNV Pathogenic 695088 12:23689556-23689556 12:23536622-23536622
19 SOX5 NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys)SNV Pathogenic 695087 12:23689561-23689561 12:23536627-23536627
20 SOX5 NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter)SNV Pathogenic 695086 12:23689593-23689593 12:23536659-23536659
21 SOX5 NC_000012.12:g.23484745_23564581deldeletion Pathogenic 222018 12:23637679-23717515 12:23484745-23564581
22 SOX5 NC_000012.12:g.23488792_23626279deldeletion Pathogenic 222019 12:23641726-23779213 12:23488792-23626279
23 SOX5 NC_000012.12:g.23771866_23888764deldeletion Pathogenic 222020 12:23924800-24041698 12:23771866-23888764
24 SOX5 NC_000012.11:g.23979791_24033225deldeletion Pathogenic 222021 12:23979791-24033225 12:23826857-23880291
25 SOX5 NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)SNV Pathogenic 222022 rs869025321 12:23757425-23757425 12:23604491-23604491
26 SOX5 NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)SNV Pathogenic/Likely pathogenic 503755 rs767241917 12:23893905-23893905 12:23740971-23740971
27 SOX5 NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)SNV Likely pathogenic 695089 12:23689507-23689507 12:23536573-23536573
28 SOX5 NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser)SNV Likely pathogenic 807695 12:23689561-23689561 12:23536627-23536627
29 SOX5 NM_006940.6(SOX5):c.1789A>G (p.Met597Val)SNV Likely pathogenic 873457 12:23689586-23689586 12:23536652-23536652
30 SOX5 NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)SNV Likely pathogenic 695085 12:23696204-23696204 12:23543270-23543270
31 SOX5 NM_006940.6(SOX5):c.1681A>C (p.Asn561His)SNV Likely pathogenic 695084 12:23696235-23696235 12:23543301-23543301
32 SOX5 NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)SNV Likely pathogenic 620040 rs1565669640 12:23696205-23696205 12:23543271-23543271
33 SOX5 NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)SNV Likely pathogenic 431148 rs1135401816 12:23689480-23689480 12:23536546-23536546
34 SOX5 NM_006940.6(SOX5):c.1050G>C (p.Gln350His)SNV Uncertain significance 634492 rs1566239985 12:23757435-23757435 12:23604501-23604501
35 SOX5 NM_006940.6(SOX5):c.1678A>G (p.Met560Val)SNV Uncertain significance 695083 12:23696238-23696238 12:23543304-23543304
36 SOX5 NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)SNV Uncertain significance 592122 rs754590341 12:23757410-23757410 12:23604476-23604476

Expression for Lamb-Shaffer Syndrome

Search GEO for disease gene expression data for Lamb-Shaffer Syndrome.

Pathways for Lamb-Shaffer Syndrome

GO Terms for Lamb-Shaffer Syndrome

Sources for Lamb-Shaffer Syndrome

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9 Cosmic
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17 EFO
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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