Hairy Elbows

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OMIM 57 139600 Orphanet 59 ORPHA2220 UMLS via Orphanet 74 C1841696 ICD10 via Orphanet 34 Q84.2

MedGen 42 C4025295 SNOMED-CT via HPO 69 271611007 15253005 298390003 40052002 246800008 11934000 228156007 247578003 91138005 224958001 248200007 32003007 398206004 398302004 88052002 20301004 87486003 123983008 74370006 237836003 237837007 422065006 64712007 more UMLS 73 C1841696

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2220Disease definitionHypertrichosis 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.Visit the Orphanet disease page for more resources.

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 ptosis and intellectual disability

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)

Clinical features from OMIM:

139600

Search Clinical Trials , NIH Clinical Center for Hairy Elbows

Search GEO for disease gene expression data for Hairy Elbows.