MCID: HRY005
MIFTS: 26

Hairy Elbows

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Name: Hairy Elbows 57 20 70
Hypertrichosis Cubiti 57 20 58
Macdermot-Patton-Williams Syndrome 58
Hairy Elbows Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hypertrichosis cubiti
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hairy elbows:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Hairy Elbows

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2220 Definition Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.

MalaCards based summary : Hairy Elbows, also known as hypertrichosis cubiti, is related to wiedemann-steiner syndrome and hypertrichosis. An important gene associated with Hairy Elbows is KMT2A (Lysine Methyltransferase 2A). Affiliated tissues include bone, and related phenotypes are generalized hirsutism and micromelia

OMIM® : 57 Hairy elbows is a rare form of localized hypertrichosis. The lanugo type of hair usually appears in infancy, becomes coarser during early childhood, and regresses at adolescence (summary by Visser et al., 2002). (139600) (Updated 05-Apr-2021)

Related Diseases for Hairy Elbows

Diseases related to Hairy Elbows via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 11.7
2 hypertrichosis 10.5
3 syringomyelia, noncommunicating isolated 10.1
4 scoliosis 10.1
5 ptosis 10.1
6 syringomyelia 10.1
7 precocious puberty 10.1
8 hypotonia 10.1
9 west syndrome 10.0
10 weill-marchesani syndrome 10.0
11 microcephaly 10.0

Graphical network of the top 20 diseases related to Hairy Elbows:



Diseases related to Hairy Elbows

Symptoms & Phenotypes for Hairy Elbows

Human phenotypes related to Hairy Elbows:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
2 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
3 abnormality of the elbow 58 31 hallmark (90%) Very frequent (99-80%) HP:0009811
4 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
5 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
6 abnormality of skin morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011121
7 dysphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002357
8 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
9 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
10 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
11 echolalia 58 31 frequent (33%) Frequent (79-30%) HP:0010529
12 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
13 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
14 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
15 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
16 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
17 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
18 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
19 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
20 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
21 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
22 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
23 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
24 abnormality of the neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000464
25 abnormal nasolacrimal system morphology 31 occasional (7.5%) HP:0000614
26 abnormal eyelash morphology 31 occasional (7.5%) HP:0000499
27 abnormal facial shape 31 very rare (1%) HP:0001999
28 short stature 31 very rare (1%) HP:0004322
29 abnormality of the eyelashes 58 Occasional (29-5%)
30 abnormality of the face 58 Occasional (29-5%)
31 abnormality of the eyelid 58 Occasional (29-5%)
32 abnormality of the nasolacrimal system 58 Occasional (29-5%)
33 elbow hypertrichosis 31 HP:0004780

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth:
short stature

Hair:
hypertrichosis limited to elbows

Clinical features from OMIM®:

139600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hairy Elbows

Search Clinical Trials , NIH Clinical Center for Hairy Elbows

Genetic Tests for Hairy Elbows

Anatomical Context for Hairy Elbows

MalaCards organs/tissues related to Hairy Elbows:

40
Bone

Publications for Hairy Elbows

Articles related to Hairy Elbows:

(show all 41)
# Title Authors PMID Year
1
Hypertrichosis cubiti: two new cases and a review of the literature. 57 61
12558109 2002
2
Hypertrichosis cubiti. 61 57
8624162 1996
3
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 57 61
2738900 1989
4
Hairy elbows. 57 61
4017657 1985
5
Hairy elbows. 61 57
453885 1979
6
Familial hypertrichosis cubiti: hairy elbows syndrome. 57 61
5519603 1970
7
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. 61
33783954 2021
8
Wiedemann-Steiner syndrome: A case report. 61
33768801 2021
9
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. 61
33387673 2021
10
Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report. 61
33325147 2021
11
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
12
Wiedemann-Steiner syndrome in two patients from Portugal. 61
31710778 2020
13
[Hypertrichosis cubiti in a girl with precocious puberty: Case report]. 61
30457733 2018
14
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. 61
29574747 2018
15
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 61
27777327 2017
16
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 61
27759909 2017
17
Hypertrichosis cubiti, a case report and literature review. 61
26862409 2016
18
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 61
25810209 2016
19
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome. 61
26690532 2015
20
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 61
25929198 2015
21
Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome). 61
27299038 2015
22
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. 61
24886118 2014
23
Hairy elbows - A case study. 61
24217102 2013
24
De novo mutations in MLL cause Wiedemann-Steiner syndrome. 61
22795537 2012
25
Hypertrichosis cubiti: another case of a well-recognized but under-reported entity. 61
20609159 2010
26
[Hypertrichosis cubiti (hairy elbows syndrome)]. 61
19726250 2009
27
The hairy elbows syndrome: clinical and neuroradiological findings. 61
19320141 2008
28
[Two cases of hypertrichosis cubiti]. 61
18035036 2007
29
A new case of hairy elbows syndrome (hypertrichosis cubiti). 61
18019374 2007
30
Hairy elbows syndrome. 61
16445502 2006
31
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. 61
16355816 2005
32
Primary generalized and localized hypertrichosis in children. 61
11453806 2001
33
A sporadic form of hypertrichosis cubiti. 61
10681173 1999
34
Hairy elbows. 61
9585909 1998
35
Hypertrichosis cubiti: a case in a Sri Lankan family. 61
9159015 1997
36
A new case of hairy elbows syndrome (Hypertrichosis cubiti). 61
8844750 1996
37
Hairy elbows. 61
7611816 1995
38
Hypertrichosis "cubiti" with facial asymmetry. 61
7802037 1994
39
Hairy elbows syndrome (familial hypertrichosis cubiti). 61
8313649 1994
40
[Hypertrichosis of the elbows]. 61
8161102 1993
41
Hypertrichosis cubiti. 61
2773989 1989

Variations for Hairy Elbows

Expression for Hairy Elbows

Search GEO for disease gene expression data for Hairy Elbows.

Pathways for Hairy Elbows

GO Terms for Hairy Elbows

Sources for Hairy Elbows

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