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Copyright V. Ventruto / A. Di Luccio Genus database 1890 ANOTHER syndrome Eponyms: Inheritance: alopecia-nail dystrophy-ophthalmic complications-thyroid dysfunctionhypohidrosis-ephelides-enteropathyrespiratory tra supposed autosomal recessive Semeiological Cutaneous-endocrino-oto disorder. Hypothyroidism, trichodysplasia, dental anomalies, dystrophic nails, hypohydrosis, dry skin, otitis, hypoacusia, respiratory infections. Synthesis: Group Sub group Signs: AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features cutis, dry isolated dermatological disorders ectodermal dysplasia ectodermal dysplasia, anhydrotic, hypohydrotic hair, changes hair, brittle hair, sparse not including alopecia totalis trichirhexis nodosa fragmentation lanugo, modified appearance hypotrichia, hypotrichosis pigmentation changes freckles, lentigines sebaceous-sudoriparous glands, changes hypohydrosis, hypohidrosis, anhidrosis ENDOCRINOLOGICAL, METABOLIC DISORDERS thyroid, changes hypothyroidism, not including: goiter, thyroid aplasia GASTROINTESTINAL DISORDERS intestinal dysfunctions abdominal pain, abdominal colic malabsorption, including diarrhea LABORATORY DATA biochemical markers metabolic defect plasma proteins, anomalies hormones, dysfunctions OCULAR DISORDERS eyelids, anomalies eyelashes, long eyelashes, sparse, madarosis lacrimal gland-sac, defects epiphora OROCRANIOFACIAL ANOMALIES cutis, vascular changes dermatographia flushing forehead-orbital region, changes eyebrows, sparse OTHERS supergroups cutaneous-oculo disorders facio-oto-respiratory disorders ANOTHER syndrome Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database RESPIRATORY DISORDERS respiratory distress respiratory infections, recurrent, including pneumonitis Super group: cutaneous-ocular disorders endocrino-ocular disorders facio-oto-respiratory disorders Super aggreg. DEAFNESS deafness, in syndromic association Aggregations: ECTODERMAL DYSPLASIA ectodermal dysplasia, anhydrotic-hypohydrotic METABOLIC DISORDERS hormones, dysfunctions OTHER isolated dermatological disorders Differential diagnosis: 27730 arthrogryposis-ectodermal dysplasia syndrome 28470 Christianson-Fourie syndrome 8240 ectodermal dysplasia, anhidrotic 8250 ectodermal dysplasia, hydrotic 8251 ectodermal dysplasia-hypothyroidismciliary dyskinesia 10190 Fryns-Chrzanowska-Van den Berghe syndrome Aggregation(s) [in differential diagnosis]: - ectodermal dysplasia, anhydrotic-hypohydrotic Bibliography ANOTHER syndrome Clin.Genet.35,237-242,1989 Page 2 of 2
