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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 19340 oromandibular-limb hypogenesis syndrome Eponyms: Inheritance: aglossia-adactilia ankyloglossia superior syndrome ankyloglossum superior-inferior faciodigital syndrome glossopalatine ankylosis syndrome Hanhart syndrome OLHS oro-acral syndrome peromelia-micrognathia genetic heterogeneity sporadic supposed autosomal dominant Semeiological Facio-gastrointerstinal-neuro-skeletal disorder. Asymmetric limb defects, severe micrognathia, hypoglossia, hypodontia, intraoral bands, temporo-mandibular joint fusion, spleen-gonadal fusion, cranial nerve palsies. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects dextrocardia DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy scalp, congenital defects nail changes nails and/or toenails, short, narrow, anonychia GASTROINTESTINAL DISORDERS ileum and/or colon, anomalies situs viscerum inversus HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS spleen, anomalies spleen gonadal fusion MUSCULAR DISEASES muscular defects, distrectual pectoralis, trapezius, anomalies NEUROLOGICAL DISORDERS cranial neuropathy cranial nerve paralysis, unspecified type facial palsy neurological dysfunctions hyperreflexia OCULAR DISORDERS eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies distopia canthorum OROCRANIOFACIAL ANOMALIES external ear malformations ear, low set facies, modified appearance acrofacial disostosis dysmorphic face facies, amimic, expressionless facies, asymmetric, unilateral atrophy, hemifacial atrophy forehead-orbital region, changes epicanthus oromandibular-limb hypogenesis syndrome Page 1 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database inner canthi, lateral displacement lips, modified appearance lower lip, cleft mandibular changes agnathia, severe micrognathia micrognathia, mandibular hypoplasia, small jaw, not including: severe micrognathia, agnathia retrognathia mouth, modified appearance mouth, small, microstomia oral mucous membrane,changes oral frenula, hypertrophy, multiple frenula palatopharyngeal changes palate cleft, palatoschisis, including submucous, not including lip and palate cleft salivary glands, changes salivation excess, drooling teeth, modified structures teeth, anodontia, oligodontia, not including incisor absence tongue, changes aglossia, microglossia ankyloglossia tongue, cleft, tongue bifid OTHERS inheritance inheritance, genetic heterogeneity inheritance, sporadic supergroups cardio-cutaneous-facio disorders cardio-cutaneous-oculo disorders cardio-facio-gastrointestinal-skeletal disorders cardio-facio-hemato-intestinal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oculo-skeleto-urological disorders cutaneous-facio-neuro-oculo disorders facio-gastrointestinal-neuro-oculo-skeletal disorders gastrointestinal-oculo-skeleal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic SKELETAL DISORDERS fingers, defects ectrodactyly, adactyly, oligodactyly limb anomalies, limb defects ectromelia; limbs, mutilations skull shape, changes craniosynostosis syndactyly syndactyly, in syndromic association Super group: cardio-cutaneous-facio disorders cardio-cutaneous-ocular disorders cardio-facio-gastrointestinal-hemato disorders cardio-facio-gastrointestinal-skeletal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oculo-skeleto-urological disorders cutaneous-facio-neuro-ocular disorders oromandibular-limb hypogenesis syndrome Page 2 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database facio-gastrointestinal-neuro-oculo-skeletal disorders gastrointestinal-oculo-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: OSTEOCHONDRODYSTROPHY, OSTEOCHONDRODYSPLASIAS acrofacial disostosis OTHER craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: 180 620 1410 1780 3990 5105 5780 9220 9400 28065 10770 27718 17930 19290 19300 1035 21100 28123 20915 24180 25520 27120 acheiropody Adams-Oliver syndrome amniotic bands sequence ankyloglossia Buttiens-Fryns syndrome Charlie M syndrome cleft palate-lateral synechia syndrome faciocardiomelic syndrome femur-fibula-ulna syndrome Figuera-Rivas-Cantu syndrome glossopalatine-cataract-polydactyly syndrome microglossia-ankyloglossia Jorgenson type nasopharyngeal membrane, Seghers type orocraniodigital syndrome orofaciodigital syndrome I peripheral disostosis, Bachman-Norman type Poland-Moebius syndrome Richieri Costa-Pereira syndrome Robin sequence splenogonadal fusion-ectromelia syndrome tongue cleft Yunis-Varon syndrome Aggregation(s) [in differential diagnosis]: - acrofacial disostosis Bibliography OMIM ID: 103300 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 742-743 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 436-437 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.47 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.37703771,2007 oromandibular-limb hypogenesis syndrome Page 3 of 3
