Hypertrichosis cubiti

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 18 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 18019374
 A new case of hairy elbows syndrome (hypertrichosis cubiti).
Koc A, Karaer K, Ergun MA, Cinaz P, Percin EF.
Genet Couns. 2007;18(3):325-30.
Microcephaly
Adult Age Determination by Skeleton Child Elbow Females Gene Frequency Homo sapiens Hypertrichosis Male
2
(35.3%)		 7802037
 Hypertrichosis "cubiti" with facial asymmetry.
Edwards MJ, Crawford AE, Jammu V, Wise G.
Am J Med Genet. 1994;53(1):56-8.
Facial asymmetry Generalized hypotonia
rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Elbow Females Homo sapiens Hypertrichosis Infant, Newborn Language Development Disorders Mosaicism
3
(31.0%)		 24886118
(4072606)
 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F.
BMC Med Genet. 2014;15:49.
Microphthalmia Syndactyly
KMT2A
c|SUB|T|4342|C;RS#:863224895 rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Child Computational Biology Developmental Disabilities Exome Facies Females High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Infant Intellectual Disability Male Myeloid-Lymphoid Leukemia Protein Phenotype Syndrome
4
(30.8%)		 27759909
 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y.
Am J Med Genet A. 2017;173(2):510-514.
Wide nasal bridge Long eyelashes
KMT2A
rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Alleles Child, Preschool Facies Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase Homo sapiens Male Myeloid-Lymphoid Leukemia Protein Phenotype Quantitative Trait Loci Sequence Deletion Syndrome
5
(26.3%)		 19320141
 The hairy elbows syndrome: clinical and neuroradiological findings.
Nardello R, Mangano S, Fontana A, Tripi G, Didato MA, Di Pace M, Corsello G.
Pediatr Med Chir. 2008;30(5):262-4.
Facial asymmetry
Brain Child, Preschool Elbow Homo sapiens Hypertrichosis Male Spasm Syndrome
5
(26.3%)		 2773989
 Hypertrichosis cubiti.
Flannery DB, Fink SM, Francis G, Gilman PA.
Am J Med Genet. 1989;32(4):482-3.
Facial asymmetry
Child, Preschool Elbow Females Growth Disorders Homo sapiens Hypertrichosis Language Development Disorders Syndrome
7
(23.3%)		 27299038
(4722584)
 Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome).
Pavone V, Testa G, Falsaperla R, Sessa G.
J Orthop Case Rep. 2015;5(2):32-4.
Scoliosis
8
(21.2%)		 2738900
 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
MacDermot KD, Patton MA, Williams MJ, Winter RM.
J Med Genet. 1989;26(6):382-5.
Skeletal dysplasia
rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Adult Age Determination by Skeleton Child Females Growth Disorders Homo sapiens Hypertrichosis Male
9
(4.0%)		 26862409
(4736513)
 Hypertrichosis cubiti, a case report and literature review.
Tng VE, de Zwaan S.
Clin Case Rep. 2016;4(2):138-42.
Hypertrichosis
9
(4.0%)		 25929198
 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
Dunkerton S, Field M, Cho V, Bertram E, Whittle B, Groves A, Goel H.
Am J Med Genet A. 2015;167A(9):2182-7.
Short stature
KMT2A
rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896
Child Contracture Diseases in Twins Exome Facies Females Genetic Predisposition to Disease Growth Disorders Heterozygote Histone-Lysine N-Methyltransferase Homo sapiens Intellectual Disability Microcephaly Myeloid-Lymphoid Leukemia Protein Single Nucleotide Polymorphism Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0011121 Abnormality of skin morphology Very frequent (99-80%)
HP:0000311 Round face Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0002300 Mutism Frequent (79-30%)
HP:0002357 Dysphasia Frequent (79-30%)
HP:0002381 Aphasia Frequent (79-30%)
HP:0010529 Echolalia Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000271 Abnormality of the face Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000426 Prominent nasal bridge Occasional (29-5%)
HP:0000464 Abnormality of the neck Occasional (29-5%)
HP:0000492 Abnormal eyelid morphology Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000499 Abnormal eyelash morphology Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000614 Abnormal nasolacrimal system morphology Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001328 Specific learning disability Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0004322 Short stature 6
HP:0000998 Hypertrichosis 4
HP:0001249 Intellectual disability 2
HP:0000324 Facial asymmetry 1
HP:0002650 Scoliosis 1
HP:0002652 Skeletal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID