Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

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Total: 88 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
42 (4.0%)	9279946	Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy. Pendergast SD, Trese MT, Shastry BS. Retina. 1997;17(4):306-9. [ Show abstract ] [ Hide abstract ]
		Glaucoma


		Child, Preschool Females Homo sapiens Phlebitis Retinal Detachment Telangiectasis Vitrectomy
42 (4.0%)	9230541	Cutis marmorata telangiectatica congenita: report of one case. Yeh YC, Wu KH, Chi CS. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997;38(3):223-5. [ Show abstract ] [ Hide abstract ]
		Telangiectasia


		Females Homo sapiens Infant Leg Length Inequality Skin Diseases, Vascular Telangiectasis
42 (4.0%)	9066194	Cutis marmorata telangiectatica congenita with cerebral and ophthalmic anomalies: report of one case. Mu SC, Hung HY, Chiu NC, Chen HH, Chen LJ. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997;38(1):65-8. [ Show abstract ] [ Hide abstract ]
		Glaucoma


		Brain Eye Abnormalities Homo sapiens Infant, Newborn Male Telangiectasis
42 (4.0%)	8806125	Cutis marmorata telangiectatica congenita or neonatal lupus? Carrascosa JM, Ribera M, Bielsa I, Coroleu W, Ferrandiz C. Pediatr Dermatol. 1996;13(3):230-2. [ Show abstract ] [ Hide abstract ]
		Cutis marmorata
		TRIM21

		Adult Antibodies, Antinuclear Differential Diagnosis Females Homo sapiens Infant, Newborn Lupus Erythematosus, Systemic Skin Diseases, Vascular
42 (4.0%)	8747584	Cutis marmorata telangiectatica congenita associated with a double aortic arch. O'Toole EA, Deasy P, Watson R. Pediatr Dermatol. 1995;12(4):348-50. [ Show abstract ] [ Hide abstract ]
		Double aortic arch


		Females Homo sapiens Infant, Newborn Skin Diseases, Vascular
42 (4.0%)	8493172	Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pehr K, Moroz B. Pediatr Dermatol. 1993;10(1):6-11. [ Show abstract ] [ Hide abstract ]
		Telangiectasia


		Child Congenital Hypothyroidism Females Follow-Up Studies Homo sapiens Hypothyroidism Infant Infant, Newborn Male Skin Diseases, Vascular Telangiectasis Time Factors
42 (4.0%)	8436874	Cutis marmorata telangiectatica congenita. Simon MW, Moore AM 2nd. J Ky Med Assoc. 1993;91(1):20-2. [ Show abstract ] [ Hide abstract ]
		Telangiectasia


		Child, Preschool Females Homo sapiens Infant, Newborn Pathological Dilatation Skin Diseases, Vascular Telangiectasis
42 (4.0%)	8370779	Leg length discrepancy associated with vivid cutis marmorata. Dutkowsky JP, Kasser JR, Kaplan LC. J Pediatr Orthop. 1993;13(4):456-8. [ Show abstract ] [ Hide abstract ]
		Cutis marmorata


		Age Determination by Skeleton Child, Preschool Females Homo sapiens Infant Leg Leg Length Inequality Male Skin Syndrome Telangiectasis
42 (4.0%)	7333396	Cutis marmorata telangiectatica with multiple congenital anomalies (van Lohuizen's syndrome). Lee S, Lee JB, Kim JH, Kim KY, Lee SH. Dermatologica. 1981;163(5):408-12. [ Show abstract ] [ Hide abstract ]
		Cutis marmorata


		Child, Preschool Homo sapiens Male Syndrome Telangiectasis Vasculitis
42 (4.0%)	6494067	Cutis marmorata telangiectatica congenita: a case report. Altman AR, Tschen JA, Wolf JE Jr. Pediatr Dermatol. 1984;1(3):223-5. [ Show abstract ] [ Hide abstract ]
		Cutis marmorata


		Females Homo sapiens Infant, Newborn Skin Skin Ulcer Telangiectasis

Phenotype(s) retrieved from Orphanet

Total: 32

HPO ID	Term	Frequency
HP:0000951	Abnormality of the skin	Very frequent (99-80%)
HP:0000965	Cutis marmorata	Very frequent (99-80%)
HP:0001250	Seizures	Very frequent (99-80%)
HP:0001933	Subcutaneous hemorrhage	Very frequent (99-80%)
HP:0002814	Abnormality of the lower limb	Very frequent (99-80%)
HP:0002817	Abnormality of the upper limb	Very frequent (99-80%)
HP:0006385	Short lower limbs	Very frequent (99-80%)
HP:0100026	Arteriovenous malformation	Very frequent (99-80%)
HP:0200041	Skin erosion	Very frequent (99-80%)
HP:0000541	Retinal detachment	Frequent (79-30%)
HP:0000555	Leukocoria	Frequent (79-30%)
HP:0008065	Aplasia/Hypoplasia of the skin	Frequent (79-30%)
HP:0100585	Telangiectasia of the skin	Frequent (79-30%)
HP:0000003	Multicystic kidney dysplasia	Occasional (29-5%)
HP:0000202	Oral cleft	Occasional (29-5%)
HP:0000347	Micrognathia	Occasional (29-5%)
HP:0000821	Hypothyroidism	Occasional (29-5%)
HP:0000979	Purpura	Occasional (29-5%)
HP:0001511	Intrauterine growth retardation	Occasional (29-5%)
HP:0001541	Ascites	Occasional (29-5%)
HP:0001643	Patent ductus arteriosus	Occasional (29-5%)
HP:0001770	Toe syndactyly	Occasional (29-5%)
HP:0002650	Scoliosis	Occasional (29-5%)
HP:0004349	Reduced bone mineral density	Occasional (29-5%)
HP:0005306	Capillary hemangioma	Occasional (29-5%)
HP:0006101	Finger syndactyly	Occasional (29-5%)
HP:0007565	Multiple cafe-au-lait spots	Occasional (29-5%)
HP:0100543	Cognitive impairment	Occasional (29-5%)
HP:0100545	Arterial stenosis	Occasional (29-5%)
HP:0100555	Asymmetric growth	Occasional (29-5%)
HP:0100627	Displacement of the urethral meatus	Occasional (29-5%)
HP:0100814	Blue nevus	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 52

HPO ID	Term	# of case reports
HP:0000256	Macrocephaly	19
HP:0000965	Cutis marmorata	11
HP:0001009	Telangiectasia	8
HP:0001052	Nevus flammeus	3
HP:0001250	Seizures	3
HP:0001548	Overgrowth	3
HP:0025104	Capillary malformation	3
HP:0000047	Hypospadias	2
HP:0000238	Hydrocephalus	2
HP:0000501	Glaucoma	2
HP:0000541	Retinal detachment	2
HP:0000822	Hypertension	2
HP:0001159	Syndactyly	2
HP:0001528	Hemihypertrophy	2
HP:0001770	Toe syndactyly	2
HP:0100556	Hemiatrophy	2
HP:0000076	Vesicoureteral reflux	1
HP:0000126	Hydronephrosis	1
HP:0000347	Micrognathia	1
HP:0000518	Cataract	1
HP:0000821	Hypothyroidism	1
HP:0000938	Osteopenia	1
HP:0001025	Urticaria	1
HP:0001048	Cavernous hemangioma	1
HP:0001269	Hemiparesis	1
HP:0001382	Joint hypermobility	1
HP:0001388	Joint laxity	1
HP:0001511	Intrauterine growth retardation	1
HP:0001643	Patent ductus arteriosus	1
HP:0001762	Talipes equinovarus	1
HP:0001791	Fetal ascites	1
HP:0002007	Frontal bossing	1
HP:0002093	Respiratory insufficiency	1
HP:0002104	Apnea	1
HP:0002240	Hepatomegaly	1
HP:0002650	Scoliosis	1
HP:0003764	Nevus	1
HP:0006521	Pulmonary lymphangiectasia	1
HP:0007917	Tractional retinal detachment	1
HP:0008094	Widely spaced toes	1
HP:0008404	Nail dystrophy	1
HP:0010783	Erythema	1
HP:0011510	Drusen	1
HP:0011590	Double aortic arch	1
HP:0012151	Hemothorax	1
HP:0012733	Macule	1
HP:0012855	Scrotal hyperpigmentation	1
HP:0025105	Nevus anemicus	1
HP:0031273	Shock	1
HP:0100259	Postaxial polydactyly	1
HP:0100555	Asymmetric growth	1
HP:0100559	Lower limb asymmetry	1

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
ARL6IP6	ADP ribosylation factor like GTPase 6 interacting protein 6	151188