MCID: HRY005
MIFTS: 28

Hairy Elbows

Categories: Fetal diseases, Mental diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Name: Hairy Elbows 57 19 71
Hypertrichosis Cubiti 57 19 58 75
Macdermot-Patton-Williams Syndrome 58
Hairy Elbows Syndrome 58
Hairy Elbow Syndrome 75

Characteristics:


Inheritance:

Hairy Elbows: Autosomal dominant 57
Hypertrichosis Cubiti: Autosomal dominant 58

Prevelance:

Hypertrichosis Cubiti: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypertrichosis Cubiti: Childhood 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 139600
ICD10 via Orphanet 32 Q84.2
UMLS via Orphanet 72 C1841696
Orphanet 58 ORPHA2220
MedGen 40 C4025295
UMLS 71 C1841696

Summaries for Hairy Elbows

GARD: 19 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 skin and bone, and related phenotypes are generalized hirsutism and micromelia

Orphanet: 58 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.

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 08-Dec-2022)

Wikipedia: 75 Hypertrichosis cubiti (also known as "hairy elbow syndrome") is a cutaneous condition characterized by... more...

Related Diseases for Hairy Elbows

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 11.7
2 hypertrichosis 10.5
3 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
4 scoliosis 10.1
5 ptosis 10.1
6 syringomyelia 10.1
7 precocious puberty 10.1
8 hypotonia 10.1
9 idiopathic syringomyelia 10.1
10 hemifacial hyperplasia 10.0
11 west syndrome 10.0
12 weill-marchesani syndrome 10.0
13 microcephaly 10.0
14 osteochondrodysplasia 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 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002230
2 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
3 abnormality of the elbow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009811
4 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
5 rhizomelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008905
6 abnormality of skin morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011121
7 facial asymmetry 58 30 Frequent (33%) Frequent (79-30%)
HP:0000324
8 round face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000311
9 aphasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002381
10 echolalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010529
11 mutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002300
12 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
13 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
14 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
15 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
16 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
17 thick eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000574
18 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001328
19 abnormal eyelash morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000499
20 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
21 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005692
22 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
23 high forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000348
24 abnormality of the neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000464
25 abnormal nasolacrimal system morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000614
26 abnormal facial shape 30 Very rare (1%) HP:0001999
27 short stature 30 Very rare (1%) HP:0004322
28 dysphasia 58 Frequent (79-30%)
29 abnormality of the face 58 Occasional (29-5%)
30 abnormal eyelid morphology 58 Occasional (29-5%)
31 elbow hypertrichosis 30 HP:0004780

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth:
short stature

Hair:
hypertrichosis limited to elbows

Clinical features from OMIM®:

139600 (Updated 08-Dec-2022)

Drugs & Therapeutics for Hairy Elbows

Search Clinical Trials, NIH Clinical Center for Hairy Elbows

Genetic Tests for Hairy Elbows

Anatomical Context for Hairy Elbows

Organs/tissues related to Hairy Elbows:

MalaCards : Skin, Bone

Publications for Hairy Elbows

Articles related to Hairy Elbows:

(show all 45)
# Title Authors PMID Year
1
Hypertrichosis cubiti: two new cases and a review of the literature. 62 57
12558109 2002
2
Hypertrichosis cubiti. 62 57
8624162 1996
3
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 62 57
2738900 1989
4
Hairy elbows. 62 57
4017657 1985
5
Hairy elbows. 62 57
453885 1979
6
Familial hypertrichosis cubiti: hairy elbows syndrome. 62 57
5519603 1970
7
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features. 62
35769955 2022
8
Wiedemann-Steiner Syndrome 62
35617449 2022
9
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. 62
35163737 2022
10
Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. 62
34828665 2021
11
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. 62
33783954 2021
12
Wiedemann-Steiner syndrome: A case report. 62
33768801 2021
13
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome. 62
33387673 2021
14
Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report. 62
33325147 2021
15
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 62
32311999 2020
16
Wiedemann-Steiner syndrome in two patients from Portugal. 62
31710778 2020
17
[Hypertrichosis cubiti in a girl with precocious puberty: Case report]. 62
30457733 2018
18
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. 62
29574747 2018
19
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 62
27777327 2017
20
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 62
27759909 2017
21
Hypertrichosis cubiti, a case report and literature review. 62
26862409 2016
22
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 62
25810209 2016
23
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. 62
26690532 2015
24
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 62
25929198 2015
25
Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome). 62
27299038 2015
26
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. 62
24886118 2014
27
Hairy elbows - A case study. 62
24217102 2013
28
De novo mutations in MLL cause Wiedemann-Steiner syndrome. 62
22795537 2012
29
Hypertrichosis cubiti: another case of a well-recognized but under-reported entity. 62
20609159 2010
30
[Hypertrichosis cubiti (hairy elbows syndrome)]. 62
19726250 2009
31
The hairy elbows syndrome: clinical and neuroradiological findings. 62
19320141 2008
32
[Two cases of hypertrichosis cubiti]. 62
18035036 2007
33
A new case of hairy elbows syndrome (hypertrichosis cubiti). 62
18019374 2007
34
Hairy elbows syndrome. 62
16445502 2006
35
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. 62
16355816 2005
36
Primary generalized and localized hypertrichosis in children. 62
11453806 2001
37
A sporadic form of hypertrichosis cubiti. 62
10681173 1999
38
Hairy elbows. 62
9585909 1998
39
Hypertrichosis cubiti: a case in a Sri Lankan family. 62
9159015 1997
40
A new case of hairy elbows syndrome (Hypertrichosis cubiti). 62
8844750 1996
41
Hairy elbows. 62
7611816 1995
42
Hypertrichosis "cubiti" with facial asymmetry. 62
7802037 1994
43
Hairy elbows syndrome (familial hypertrichosis cubiti). 62
8313649 1994
44
[Hypertrichosis of the elbows]. 62
8161102 1993
45
Hypertrichosis cubiti. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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