MCID: LMB069
MIFTS: 24

Lamb-Shaffer Syndrome

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

Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Name: Lamb-Shaffer Syndrome 57 75 29 6
Lamshf 57 75
Developmental and Speech Delay Due to Sox5 Deficiency 59
12p12.1 Microdeletion Syndrome 59
Syndrome, Lamb-Shaffer 40
Monosomy 12p12.1 59
Del(12)(p12.1) 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

32
lamb-shaffer syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lamb-Shaffer Syndrome

OMIM : 57 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)

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

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Lamb-Shaffer Syndrome

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
clinodactyly
long fingers (in some patients)

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

Head And Neck Mouth:
open mouth

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 Face:
frontal bossing
facial asymmetry

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

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

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic features


Clinical features from OMIM:

616803

Human phenotypes related to Lamb-Shaffer Syndrome:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 obligate (100%) Obligate (100%) HP:0001249
2 motor delay 59 32 obligate (100%) Obligate (100%) HP:0001270
3 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
4 hyperplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0430028
5 narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0000189
6 strabismus 59 32 Frequent (79-30%) HP:0000486
7 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
8 exotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000577
9 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
10 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
11 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
12 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
13 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
14 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
15 exaggerated median tongue furrow 59 32 frequent (33%) Frequent (79-30%) HP:0002711
16 lumbar hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0002938
17 vertebral fusion 59 32 frequent (33%) Frequent (79-30%) HP:0002948
18 2-3 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0004691
19 thoracic kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0005659
20 abnormality of brain morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012443
21 abnormality of the genital system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000078
22 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
23 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
24 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
25 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
26 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
27 scoliosis 59 32 Occasional (29-5%) HP:0002650
28 butterfly vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0003316
29 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
30 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
31 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
32 open mouth 32 HP:0000194
33 epicanthus 32 HP:0000286
34 facial asymmetry 32 HP:0000324
35 posteriorly rotated ears 32 HP:0000358
36 low-set ears 32 HP:0000369
37 bulbous nose 32 HP:0000414
38 wide nasal bridge 32 HP:0000431
39 downslanted palpebral fissures 32 HP:0000494
40 global developmental delay 32 HP:0001263
41 generalized hypotonia 32 HP:0001290
42 pes planus 32 occasional (7.5%) HP:0001763
43 overlapping toe 32 occasional (7.5%) HP:0001845
44 long hallux 32 occasional (7.5%) HP:0001847
45 depressed nasal bridge 32 HP:0005280
46 vertebral clefting 32 occasional (7.5%) HP:0008428
47 clinodactyly 32 HP:0030084
48 long fingers 32 occasional (7.5%) HP:0100807

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:

41
Tongue, Brain

Publications for Lamb-Shaffer Syndrome

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX5 NC_000012.12: g.23484745_23564581del deletion Pathogenic GRCh38 Chromosome 12, 23484745: 23564581
2 SOX5 NC_000012.12: g.23484745_23564581del deletion Pathogenic GRCh37 Chromosome 12, 23637679: 23717515
3 SOX5 NC_000012.12: g.23488792_23626279del deletion Pathogenic GRCh38 Chromosome 12, 23488792: 23626279
4 SOX5 NC_000012.12: g.23488792_23626279del deletion Pathogenic GRCh37 Chromosome 12, 23641726: 23779213
5 SOX5 NC_000012.12: g.23771866_23888764del deletion Pathogenic GRCh38 Chromosome 12, 23771866: 23888764
6 SOX5 NC_000012.12: g.23771866_23888764del deletion Pathogenic GRCh37 Chromosome 12, 23924800: 24041698
7 SOX5 NC_000012.11: g.23979791_24033225del53435 deletion Pathogenic GRCh38 Chromosome 12, 23826857: 23880291
8 SOX5 NC_000012.11: g.23979791_24033225del53435 deletion Pathogenic GRCh37 Chromosome 12, 23979791: 24033225
9 SOX5 NM_152989.4(SOX5): c.1021G> T (p.Gly341Ter) single nucleotide variant Pathogenic rs869025321 GRCh37 Chromosome 12, 23757425: 23757425
10 SOX5 NM_152989.4(SOX5): c.1021G> T (p.Gly341Ter) single nucleotide variant Pathogenic rs869025321 GRCh38 Chromosome 12, 23604491: 23604491
11 SOX5 NM_006940.5(SOX5): c.1895C> A (p.Thr632Asn) single nucleotide variant Likely pathogenic rs1135401816 GRCh38 Chromosome 12, 23536546: 23536546
12 SOX5 NM_006940.5(SOX5): c.1895C> A (p.Thr632Asn) single nucleotide variant Likely pathogenic rs1135401816 GRCh37 Chromosome 12, 23689480: 23689480
13 SOX5 NM_006940.5(SOX5): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767241917 GRCh37 Chromosome 12, 23893905: 23893905
14 SOX5 NM_006940.5(SOX5): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767241917 GRCh38 Chromosome 12, 23740971: 23740971

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

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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