LMS
MCID: LMB008
MIFTS: 34

Limb-Mammary Syndrome (LMS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Limb-Mammary Syndrome

MalaCards integrated aliases for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 57 20 58 72 36 29 13 54 6 70
Lms 57 20 58 72
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 20
Syndrome, Limb-Mammary 39

Characteristics:

Orphanet epidemiological data:

58
limb-mammary syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to eec3 , shfm4 , rapp-hodgkin syndrome , hay-wells syndrome , and adult syndrome


HPO:

31
limb-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Limb-Mammary Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 69085 Definition Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. Epidemiology Less than 50 cases have been described in the literature so far. Clinical description Clinically, the syndrome is characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Clinical expression is extremely variable. Individuals with mild LMS have isolated athelia. All three major categories of limb defects ( i.e., deficiencies, duplications, and fusion/separation defects), as well as several combinations of these anomalies, were observed. Variation in the severity of the limb defects may be observed, not only between individuals but also between the left and right hand/foot of one individual. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia (absence of one or more teeth), earpits and cleft palate with or without bifid uvula. Skin and hair are spared. Etiology LMS is caused by loss-of-function mutations in exon 13 and 14 of the TP63 gene localized to the subtelomeric region of chromosome 3 (3q27). There is a strong genotype - phenotype correlation in syndromes caused by mutations in this gene, which is also responsible for several other ectodermal dysplasia syndromes (ectrodactyly-ectodermal dysplasia- cleft lip palate (EEC), and the Hay-Wells, Rapp-Hodgkin and ADULT syndromes) and some cases of split hand-foot syndrome. Differential diagnosis Differential diagnosis should include ulnar-mammary syndrome, an autosomal dominant condition caused by mutations in the TBX3 gene and characterised by ulnar ray defects or post-axial polydactyly, anal atresia, genito-urinary abnormalities, hypohidrosis and breast hypoplasia. Genetic counseling LMS is an autosomal dominant disease. Management and treatment Treatment of LMS depends on the anomalies present. Surgical intervention may be offered for correction of the hand/foot deformities in order to improve function and reduce physical disfigurement. Prognosis The prognosis for LMS patients is good and life expectancy is normal.

MalaCards based summary : Limb-Mammary Syndrome, also known as lms, is related to lateral meningocele syndrome and lenz-majewski hyperostotic dwarfism. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include eye, breast and ovary, and related phenotypes are hypoplastic nipples and breast aplasia

OMIM® : 57 Limb-mammary syndrome (LMS) is an autosomal dominant disorder characterized by variable expressivity of severe hand and/or foot anomalies (deficiencies, duplications, and fusion/separation defects) and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal duct atresia, nail dysplasia hypohidrosis, hypodontia, and cleft palate with or without bifid uvula (Van Bokhoven et al., 1999). (603543) (Updated 20-May-2021)

KEGG : 36 Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.

UniProtKB/Swiss-Prot : 72 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Wikipedia : 73 Limb-mammary syndrome is a cutaneous condition characterized by p63... more...

Related Diseases for Limb-Mammary Syndrome

Graphical network of the top 20 diseases related to Limb-Mammary Syndrome:



Diseases related to Limb-Mammary Syndrome

Symptoms & Phenotypes for Limb-Mammary Syndrome

Human phenotypes related to Limb-Mammary Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
2 breast aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100783
3 absent nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002561
4 absent lacrimal punctum 58 31 frequent (33%) Frequent (79-30%) HP:0001092
5 lacrimal duct atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000564
6 bilateral breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012814
7 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
8 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
9 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
10 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
11 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
12 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
13 nail dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002164
14 oligodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012165
15 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
16 submucous cleft soft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0011819
17 cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0410030
18 3-4 finger cutaneous syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011939
19 chronic irritative conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007717
20 cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0410005
21 primary amenorrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0000786
22 alopecia 58 31 very rare (1%) Very rare (<4-1%) HP:0001596
23 multiple cafe-au-lait spots 58 31 very rare (1%) Very rare (<4-1%) HP:0007565
24 protruding ear 58 31 very rare (1%) Very rare (<4-1%) HP:0000411
25 malar flattening 58 31 very rare (1%) Very rare (<4-1%) HP:0000272
26 freckling 58 31 very rare (1%) Very rare (<4-1%) HP:0001480
27 sparse eyebrow 58 31 very rare (1%) Very rare (<4-1%) HP:0045075
28 aplasia of the uterus 58 31 very rare (1%) Very rare (<4-1%) HP:0000151
29 psoriasiform dermatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0003765
30 aplasia of the ovary 58 31 very rare (1%) Very rare (<4-1%) HP:0010463
31 syndactyly 58 31 Occasional (29-5%) HP:0001159
32 cleft palate 58 Occasional (29-5%)
33 split hand 31 HP:0001171
34 hallux valgus 31 HP:0001822
35 camptodactyly 31 HP:0012385
36 split foot 31 HP:0001839
37 joint contracture of the hand 31 HP:0009473

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
bifid uvula

Head And Neck Teeth:
hypodontia

Skin Nails Hair Nails:
nail dysplasia

Head And Neck Eyes:
lacrimal duct atresia

Skin Nails Hair Skin:
hypohidrosis

Skeletal Feet:
hallux valgus
ectrodactyly
split foot

Skeletal Hands:
ectrodactyly
camptodactyly
syndactyly

Chest Breasts:
aplastic/hypoplastic breasts
aplastic/hypoplastic nipples

Clinical features from OMIM®:

603543 (Updated 20-May-2021)

Drugs & Therapeutics for Limb-Mammary Syndrome

Search Clinical Trials , NIH Clinical Center for Limb-Mammary Syndrome

Genetic Tests for Limb-Mammary Syndrome

Genetic tests related to Limb-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Limb-Mammary Syndrome 29 TP63

Anatomical Context for Limb-Mammary Syndrome

MalaCards organs/tissues related to Limb-Mammary Syndrome:

40
Eye, Breast, Ovary, Uterus, Smooth Muscle

Publications for Limb-Mammary Syndrome

Articles related to Limb-Mammary Syndrome:

(show all 24)
# Title Authors PMID Year
1
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 57 6 54 61
11462173 2001
2
Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation? 57 61 6
18627043 2008
3
ADULT syndrome allelic to limb mammary syndrome (LMS)? 57 61
10607963 2000
4
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 61 57
10535733 1999
5
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. 57 61
9973291 1999
6
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. 6
9774969 1998
7
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. 57
8456838 1993
8
Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. 54 61
17164413 2007
9
p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. 54 61
14656652 2004
10
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 61 54
11929852 2002
11
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. 61
33126320 2020
12
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect. 61
32067224 2020
13
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
14
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. 61
28293528 2016
15
Differentially Expressed Genes in EEC and LMS Syndromes. 61
26075610 2015
16
Homozygous truncating PTPRF mutation causes athelia. 61
24781087 2014
17
A newborn with overlapping features of AEC and EEC syndromes. 61
22065614 2011
18
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 61
21990121 2011
19
TP63 gene mutations in Chinese P63 syndrome patients. 61
20410354 2010
20
TP63-Related Disorders 61
20556892 2010
21
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 61
17431922 2007
22
P63 gene mutations and human developmental syndromes. 61
12357472 2002
23
The p63 gene in EEC and other syndromes. 61
12070241 2002
24
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 61
11159940 2001

Variations for Limb-Mammary Syndrome

ClinVar genetic disease variations for Limb-Mammary Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 TP63, 2-BP DEL, 1576TT Deletion Pathogenic 6538 GRCh37:
GRCh38:
2 TP63 TP63, 2-BP DEL, 1743AA Deletion Pathogenic 6539 GRCh37:
GRCh38:
3 TP63 NM_003722.5(TP63):c.1169T>A (p.Ile390Asn) SNV Uncertain significance 931401 GRCh37: 3:189587152-189587152
GRCh38: 3:189869363-189869363

Expression for Limb-Mammary Syndrome

Search GEO for disease gene expression data for Limb-Mammary Syndrome.

Pathways for Limb-Mammary Syndrome

GO Terms for Limb-Mammary Syndrome

Sources for Limb-Mammary Syndrome

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