MCID: HRY005
MIFTS: 26

Hairy Elbows

Categories: Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hairy Elbows

MalaCards integrated aliases for Hairy Elbows:

Name: Hairy Elbows 57 53 29 73
Hypertrichosis Cubiti 57 53 59
Macdermot-Patton-Williams Syndrome 59
Hairy Elbows Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hypertrichosis cubiti
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hairy elbows:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hairy Elbows

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)

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 related phenotypes are ptosis and intellectual disability

Related Diseases for Hairy Elbows

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

# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 12.1
2 hypertrichosis 10.2

Symptoms & Phenotypes for Hairy Elbows

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

Hair:
hypertrichosis limited to elbows


Clinical features from OMIM:

139600

Human phenotypes related to Hairy Elbows:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 dysphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002357
4 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
5 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
6 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
8 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
9 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
10 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
11 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
12 aphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002381
13 abnormality of the eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000499
14 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
15 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
16 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
17 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
18 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
19 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
20 abnormality of the neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000464
21 abnormality of the elbow 59 32 hallmark (90%) Very frequent (99-80%) HP:0009811
22 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
23 abnormality of skin morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0011121
24 echolalia 59 32 frequent (33%) Frequent (79-30%) HP:0010529
25 mutism 59 32 frequent (33%) Frequent (79-30%) HP:0002300
26 short stature 32 HP:0004322
27 abnormality of the eyelid 59 Occasional (29-5%)
28 abnormality of the face 59 Occasional (29-5%)
29 abnormality of the nasolacrimal system 59 Occasional (29-5%)
30 abnormal nasolacrimal system morphology 32 occasional (7.5%) HP:0000614
31 elbow hypertrichosis 32 HP:0004780

Drugs & Therapeutics for Hairy Elbows

Search Clinical Trials , NIH Clinical Center for Hairy Elbows

Genetic Tests for Hairy Elbows

Genetic tests related to Hairy Elbows:

# Genetic test Affiliating Genes
1 Hairy Elbows 29

Anatomical Context for Hairy Elbows

MalaCards organs/tissues related to Hairy Elbows:

41
Skin

Publications for Hairy Elbows

Articles related to Hairy Elbows:

(show all 14)
# Title Authors Year
1
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. ( 26690532 )
2015
2
Hairy elbows - A case study. ( 24217102 )
2013
3
The hairy elbows syndrome: clinical and neuroradiological findings. ( 19320141 )
2008
4
A new case of hairy elbows syndrome (hypertrichosis cubiti). ( 18019374 )
2007
5
Hairy elbows syndrome. ( 16445502 )
2006
6
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. ( 16355816 )
2005
7
Hairy elbows. ( 9585909 )
1998
8
A new case of hairy elbows syndrome (Hypertrichosis cubiti). ( 8844750 )
1996
9
Hairy elbows. ( 7611816 )
1995
10
Hairy elbows syndrome (familial hypertrichosis cubiti). ( 8313649 )
1994
11
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. ( 2738900 )
1989
12
Hairy elbows. ( 4017657 )
1985
13
Hairy elbows. ( 453885 )
1979
14
Familial hypertrichosis cubiti: hairy elbows syndrome. ( 5519603 )
1970

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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