MCID: HRY005
MIFTS: 28
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Hairy Elbows
Categories:
Fetal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hairy Elbows:
Characteristics:Orphanet epidemiological data:59
hypertrichosis cubiti
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Classifications:
ICD10:
34
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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) |
Diseases related to Hairy Elbows via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:139600Human phenotypes related to Hairy Elbows:59 32 (show all 33)
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Genetic tests related to Hairy Elbows:
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MalaCards organs/tissues related to Hairy Elbows:41
Skin,
Bone
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Articles related to Hairy Elbows:(show all 14)
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