docectodermal dysplasia, anhidrotic
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ectodermal dysplasia, anhidrotic
Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 8240 ectodermal dysplasia, anhidrotic Christ-Siemens-Touraine syndrome CST ectodermal dysplasia hypohidrotic EDA HED hypohidrosis-hypodontiahypotrichosis XHED Eponyms: Inheritance: autosomal recessive genetic heterogeneity X-linked recessive Semeiological Cutaneous-orofacial disorder. Hypo-anhidrosis, hypodontia, corneal clouding, hypotrichosis, frontal bossing, protruding lips, dry periorbital skin. Possibility of abnormalities in carrier: reduced sweat pores, dental defects. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features cutis, dry isolated dermatological disorders dermatitis eczema, senborrheic dermatitis erythroderma ichthyosiformis dermatoglyphics, changes dermatoglyphics, fingertip absence, hypoplasia sweat pores, defect ectodermal dysplasia ectodermal dysplasia, anhydrotic, hypohydrotic hair, changes baldness, hair absence hair, brittle hair, fine hair, sparse not including alopecia totalis keratinisation defects palmoplantaris hyperkeratosis lanugo, modified appearance axillar hypotrichia, pubic hypotrichia hypotrichia, hypotrichosis nail changes trachyonychia pigmentation changes cutis, hyperpigmentation cutis, hypopigmentation; fair skin lines of Blaschko periorbital hyperpigmentation sebaceous-sudoriparous glands, changes hypohydrosis, hypohidrosis, anhidrosis GENITAL DISORDERS breast, changes breast, hypoplasia nipples: inverted, absent, hypoplasitc LABORATORY DATA chromosomal assignment chromosome 2q localization chromosome X localization chromosome Xq localization gene, structural-functional anomalies EDA (HED) anhidrotic ectodermal dysplasia, gene chr.Xq12.2-q13.1 ectodermal dysplasia, anhidrotic Page 1 of 4 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database EDAR (DL) (ED3) (EDA3), gene cr.2q11-q13 gene analysis-DNA analysis tissue, biochemical changes fibroblasts, changes NEUROLOGICAL DISORDERS mental retardation mental retardation neurological dysfunctions fever, periodic OCULAR DISORDERS corneal defects not including dystrophy corneal clouding corneal dystrophy in syndromic association corneal dystrophy, unspecified type in syndromic association eyelids, anomalies eyelashes, sparse, madarosis lacrimal gland-sac, defects tears, absence, reduced lacrimation OROCRANIOFACIAL ANOMALIES external ear malformations ear, prominent; ear lobe, protruding forehead-orbital region, changes eyebrows, absent eyebrows, sparse forehead, large, prominent frontal bossing supraorbital ridges, prominent wrinkled eyelids, lips, modified appearance lips, protruding, everted, full, thickened lips, swelling, including nodules lower lip, thick nose, modified appearance choanal atresia nasal bridge, nasal root, depressed, flat, saddle-nose nasal bridge, nasal root, low salivary glands, changes xerostomia, reduced salivary secretion, including salivary glands hypotrophy/absence teeth, modified structures microdontia, hypodontia; teeth, hypoplasia, peg shaped, conical shaped teeth, anodontia, oligodontia, not including incisor absence teeth, congenital absence of germs teeth, dentin defects, including dentinogenesis imperfecta OTHERS inheritance inheritance, autosomal recessive inheritance, genetic heterogeneity inheritance, X-linked recessive supergroups cutaneous-facio-neuro-oculo disorders cutaneous-genito-neuro-skeletal disorders facio-genito-neuro-skeletal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques ectodermal dysplasia, anhidrotic Page 2 of 4 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database prenatal diagnosis foetal biopsy prenatal diagnosis, echographic prenatal diagnosis, molecular RESPIRATORY DISORDERS larynx, changes cry, hoarse voice, hoarseness husky respiratory distress respiratory infections, recurrent, including pneumonitis SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation stature, short, including micromelia, including short limbs Super group: cutaneous-facio-neuro-ocular disorders cutaneous-genito-neuro-skeletal disorders facio-genito-neuro-skeletal disorders Super aggreg. ECTODERMAL DYSPLASIA ectodermal dysplasia, anhydrotic-hypohydrotic Aggregations: FOETAL CHANGES foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques OTHER isolated dermatological disorders phenotypical changes in carrier for X-linked disorders Differential diagnosis: 1310 1390 1685 1690 1890 27730 2960 3350 28470 9934 8271 7900 8250 8252 27673 23330 27 27525 10190 13034 9162 28886 13640 14800 15470 28872 28887 16740 20930 22290 25590 25840 ectodermal dysplasia, anhidrotic amelo-cerebro-hypohydrotic syndrome amelo-onycho-hypohydrotic syndrome anhidrosis generalized-normal sweat glands anhidrosis simple congenital ANOTHER syndrome arthrogryposis-ectodermal dysplasia syndrome Basan syndrome blaschko lines Christianson-Fourie syndrome dermatopathia pigmentosa reticularis Doffinger syndrome dysautonomia II ectodermal dysplasia, hydrotic ectodermal dysplasia, Jorgenson type ectodermal dysplasia, Lelis type EEC1 syndrome EEC3 syndrome Falace-Hall syndrome Fryns-Chrzanowska-Van den Berghe syndrome hypohydrosis-abnormal dermal ridges hypotrichosis-lymphedema-telangiectasia syndrome Iliyna-Amoashy-Grygory syndrome Johnson-McMillin syndrome Levy-Hollister syndrome madarosis Mc Grath syndrome Mendoza-Valiente syndrome Mikaelian syndrome pilodentoungular-microcephaly syndrome Rapp-Hodgkin syndrome tooth-nail syndrome trichodysplasia-xeroderma syndrome Page 3 of 4 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 25860 26310 8974 26450 26840 tricho-odonto-onychial syndrome van den Bosch syndrome Van Steensel syndrome Viljoen-Winship syndrome Wilson ectodermal dysplasia syndrome Aggregation(s) [in differential diagnosis]: - ectodermal dysplasia, anhydrotic-hypohydrotic Bibliography OMIM ID: 305100 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 628-631 OMIM ID: 224900 Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.199-200 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 530-531 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 183, 270 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.35043507,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.35313534,2007 ectodermal dysplasia, anhidrotic Page 4 of 4
