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Nume Congenital malformation syndromes predominantly affecting facial appearance
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Boli A-Z Ablepharon-Macrostomia Syndrome Acrocephalopolydactylous Dysplasia Acrocephalopolysyndactyly Type Iii Acrocephalopolysyndactyly Type Iv Acrocraniofacial Dysostosis Acromegaloid Facial Appearance Syndrome Acromegaloid Hypertrichosis Syndrome Agammaglobulinemia, Microcephaly, and Severe Dermatitis Ankyloblepharon Filiforme Adnatum and Cleft Palate Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis Apert Syndrome Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome Arthrogryposis, Distal, Type 2a Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome Bainbridge-Ropers Syndrome Baraitser-Winter Syndrome Barber-Say Syndrome Beaulieu-Boycott-Innes Syndrome Blepharochalasis and Double Lip Blepharonasofacial Malformation Syndrome Bosma Arhinia Microphthalmia Syndrome Brachytelephalangy with Characteristic Facies and Kallmann Syndrome Branchiogenic-Deafness Syndrome Branchiootic Syndrome Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye Carey-Fineman-Ziter Syndrome Carpenter Syndrome 1 Cayler Cardiofacial Syndrome Cerebellofaciodental Syndrome Cerebrooculonasal Syndrome Charlie M Syndrome Chromosome 2q35 Duplication Syndrome Cleft Lip/palate with Abnormal Thumbs and Microcephaly Cleft Palate Short Stature Vertebral Anomalies Coffin-Lowry Syndrome Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome Contractures-Developmental Delay-Pierre Robin Syndrome Craniofacial-Deafness-Hand Syndrome Craniofacial Dyssynostosis with Short Stature Craniofaciofrontodigital Syndrome Craniomicromelic Syndrome Craniosynostosis and Dental Anomalies Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism Curry-Jones Syndrome Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy Deafness-Craniofacial Syndrome Epiphyseal Dysplasia Hearing Loss Dysmorphism Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs Facial Paresis, Hereditary Congenital, 1 Fibromatosis, Gingival, with Distinctive Facies Fraser Syndrome 1 Frontonasal Dysplasia 2 Gorlin-Chaudhry-Moss Syndrome Greig Cephalopolysyndactyly Syndrome Hallermann-Streiff-Like Syndrome Hallermann-Streiff Syndrome Helsmoortel-Van Der Aa Syndrome Hemifacial Microsomia Hunter-Mcalpine Craniosynostosis Syndrome Hypertelorism, Microtia, Facial Clefting Syndrome Hypertelorism, Teebi Type Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome Kabuki Syndrome 1 Macrosomia with Microphthalmia, Lethal Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome Mandibulofacial Dysostosis, Guion-Almeida Type Mandibulofacial Dysostosis with Macroblepharon and Macrostomia Marden-Walker Syndrome Marshall Syndrome Mental Retardation, Autosomal Dominant 23 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Mental Retardation, X-Linked, with Craniofacial Dysmorphism Microphthalmia, Syndromic 13 Microtia, Hearing Impairment, and Cleft Palate Moebius Syndrome Mohr Syndrome Muenke Syndrome Nance-Horan Syndrome Nasodigitoacoustic Syndrome Oculoauriculofrontonasal Syndrome Orofaciodigital Syndrome 12 Orofaciodigital Syndrome 13 Orofaciodigital Syndrome I Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Ix Orofaciodigital Syndrome V Orofaciodigital Syndrome Viii Orofaciodigital Syndrome X Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Xiv Otofaciocervical Syndrome 1 Otopalatodigital Syndrome Otopalatodigital Syndrome, Type I Otopalatodigital Syndrome, Type Ii Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Pfeiffer Syndrome Pierre Robin Syndrome Pierre Robin Syndrome and Oligodactyly Pitt-Hopkins Syndrome Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies Pterygium Colli and Mental Retardation with Facial and Digital Anomalies Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome Robin Sequence with Distinctive Facial Appearance and Brachydactyly Scaphocephaly, Maxillary Retrusion, and Mental Retardation Scott Bryant Graham Syndrome Simosa Craniofacial Syndrome Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease Split-Foot Deformity with Mandibulofacial Dysostosis Stickler Syndrome Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet Trigonocephaly-Broad Thumbs Syndrome Trigonocephaly with Short Stature and Developmental Delay Van Den Ende-Gupta Syndrome Velofacioskeletal Syndrome Warburg Micro Syndrome 1 Warburg Micro Syndrome 2 Warburg Micro Syndrome 3 Warburg Micro Syndrome 4 Weill-Marchesani Syndrome Wolff Mental Retardation Syndrome X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome