MCID: WLL032
MIFTS: 17

Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

MalaCards integrated aliases for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

Name: Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 58
Salamon Syndrome 58 54 60
Woolly Hair-Hypotrichosis-Everted Lower Lip-Outstanding Ears Syndrome 60
Wooly Hair-Hypotrichosis-Everted Lower Lip-Outstanding Ears Syndrome 60
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 74
Woolly Hair Hypotrichosis Everted Lower Lip and Outstanding Ears 54

Characteristics:

Orphanet epidemiological data:

60
woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
woolly hair, hypotrichosis, everted lower lip, and outstanding ears:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

MalaCards based summary : Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears, is also known as salamon syndrome. Affiliated tissues include skin, and related phenotypes are everted lower lip vermilion and protruding ear

Description from OMIM: 278200

Related Diseases for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Symptoms & Phenotypes for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Human phenotypes related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
2 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
3 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
4 woolly hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002224
5 hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0005599
6 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
7 pili torti 60 33 frequent (33%) Frequent (79-30%) HP:0003777
8 brittle hair 60 33 frequent (33%) Frequent (79-30%) HP:0002299
9 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
10 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
11 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
12 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
13 retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000488
14 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597
15 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
16 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
17 palmoplantar keratoderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000982
18 nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003764
19 abnormality of the hair 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Hair:
hypotrichosis
woolly hair

H E E N T:
everted lower lip
protruding ears

Clinical features from OMIM:

278200

Drugs & Therapeutics for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Search Clinical Trials , NIH Clinical Center for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears

Genetic Tests for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Anatomical Context for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

MalaCards organs/tissues related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

42
Skin

Publications for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Variations for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Expression for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Search GEO for disease gene expression data for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears.

Pathways for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

GO Terms for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Sources for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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