Limb–mammary syndrome

Limb–mammary syndrome
Limb–mammary syndrome
Other names	LMS
	hand of patient with Limb–mammary syndrome
Specialty	Medical genetics

Limb–mammary syndrome is a

cutaneous condition characterized by p63 mutations.^[2]

References

^ "OMIM Entry - # 603543 - LIMB-MAMMARY SYNDROME; LMS". omim.org. Retrieved 27 April 2019.
ISBN 978-1-4160-2999-1
.

Further reading

GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay-Wells Syndrome. Includes: Rapp–Hodgkin Syndrome

External links

Classification
ICD-10: Q82.4
OMIM: 603543
MeSH: C535903
DiseasesDB: 32743
SNOMED CT: 721972001
External resources
Orphanet: 69085

OMIM entries on AEC

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Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2

Feingold syndrome

Saethre–Chotzen syndrome

1.3

Tietz syndrome

(2) Zinc finger
DNA-binding domains
2.1

(Intracellular receptor): Thyroid hormone resistance

Androgen insensitivity syndrome
PAIS

MAIS

CAIS

Kennedy's disease

PHA1AD pseudohypoaldosteronism

Estrogen insensitivity syndrome

X-linked adrenal hypoplasia congenita

MODY 1

Familial partial lipodystrophy 3

SF1 XY gonadal dysgenesis

2.2

Barakat syndrome

Tricho–rhino–phalangeal syndrome

2.3

Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome

Denys–Drash syndrome

Duane-radial ray syndrome

MODY 7

MRX 89

Townes–Brocks syndrome

Acrocallosal syndrome

Myotonic dystrophy 2

2.5

Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains
3.1

ARX
Ohtahara syndrome

Lissencephaly X2

MNX1
Currarino syndrome

HOXD13
SPD1 synpolydactyly

PDX1
MODY 4

LMX1B
Nail–patella syndrome

MSX1

Tooth and nail syndrome

OFC5

PITX2
Axenfeld syndrome 1

POU4F3
DFNA15

POU3F4
DFNX2

ZEB1
Posterior polymorphous corneal dystrophy

Fuchs' dystrophy 3

ZEB2
Mowat–Wilson syndrome

3.2

PAX2
Papillorenal syndrome

PAX3
Waardenburg syndrome 1&3

PAX4
MODY 9

PAX6
Gillespie syndrome

Coloboma of optic nerve

PAX8
Congenital hypothyroidism 2

PAX9
STHAG3

3.3

FOXC1
Axenfeld syndrome 3

Iridogoniodysgenesis, dominant type

FOXC2
Lymphedema–distichiasis syndrome

FOXE1
Bamforth–Lazarus syndrome

FOXE3
Anterior segment mesenchymal dysgenesis

FOXF1
ACD/MPV

FOXI1
Enlarged vestibular aqueduct

FOXL2

Premature ovarian failure 3

FOXP3
IPEX

3.5

IRF6
Van der Woude syndrome

Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts
4.2

Hyperimmunoglobulin E syndrome

4.3

Holt–Oram syndrome

Li–Fraumeni syndrome

Ulnar–mammary syndrome

4.7

Campomelic dysplasia

MODY 3

MODY 5

SF1
SRY XY gonadal dysgenesis

Premature ovarian failure 7

SOX10
Waardenburg syndrome 4c

Yemenite deaf-blind hypopigmentation syndrome

4.11

Cleidocranial dysostosis

(0) Other transcription factors
0.6

Kabuki syndrome

Ungrouped

TCF4
Pitt–Hopkins syndrome

ZFP57
TNDM1

TP63
OFC8

Transcription coregulators
Coactivator:

CREBBP
Rubinstein–Taybi syndrome

Corepressor:

HR (Atrichia with papular lesions)

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[1] "OMIM Entry - # 603543 - LIMB-MAMMARY SYNDROME; LMS". omim.org. Retrieved 27 April 2019.

[Bolognia-2] ISBN 978-1-4160-2999-1
.

[1]

[2]

See also

References

Further reading

External links