Congenital malformation syndromes predominantly affecting facial appearance

Preferred Label : Congenital malformation syndromes predominantly affecting facial appearance;

Inclusion CIM-10 : Robin syndrome; Moebius syndrome; Oro-facial-digital syndrome; Acrocephalosyndactyly [Apert]; Goldenhar syndrome; Cryptophthalmos syndrome; Whistling face; Acrocephalopolysyndactyly; Cyclopia;

Diag associé à un acte (%) : 89.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q870;

UMLS CUI

C0432066;

Automatic exact mappings (from CISMeF team)
- Acrocephalopolysyndactyly [MedDRA LLT]
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Cryptophthalmos Syndrome [NCIt concept]
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Cyclopia [ICD-11 More detail]
- Cyclopia [HPO term]
- Cyclopia [MedDRA Preferred Term]
- Cyclopia [NCIt concept]
- Cyclopia [PASCAL descriptor]
- Cyclopia (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [ICD-11 More detail]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Holoprosencephaly 1 [OMIM Phenotype]
- Mobius Syndrome [NCIt concept]
- Moebius syndrome [ORDO Disease]
- Moebius syndrome [ICD-11 More detail]
- Moebius syndrome [OMIM Phenotype]
- Moebius syndrome [PASCAL descriptor]
- Moebius syndrome (disorder) [SNOMED CT concept]
- Robin's syndrome [MedDRA LLT]
- acrocephalosyndactylia [MeSH Descriptor]
- cyclopia sequence [MeSH concept]
- cyclopia sequence [MeSH Supplementary Concept]
DO Cross reference
- Fraser syndrome [DO Concept]
- Freeman-Sheldon syndrome [DO Concept]
- Goldenhar syndrome [DO Concept]
- Moebius syndrome [DO Concept]
- Sakati-Nyhan syndrome [DO Concept]
- Warburg micro syndrome 1 [DO Concept]
- Warburg micro syndrome 2 [DO Concept]
- Warburg micro syndrome 3 [DO Concept]
- Warburg micro syndrome 4 [DO Concept]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- branchiootic syndrome [DO Concept]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome X [DO Concept]
Manual NTBT mappings (CISMeF)
- Orofaciodigital syndrome type 10 [ORDO Disease]
- Orofaciodigital syndrome type 11 [ORDO Disease]
- Orofaciodigital syndrome type 12 [ORDO Disease]
- Orofaciodigital syndrome type 13 [ORDO Disease]
- Orofaciodigital syndrome type 3 [ORDO Disease]
- Orofaciodigital syndrome type 4 [ORDO Disease]
- Orofaciodigital syndrome type 5 [ORDO Disease]
- Orofaciodigital syndrome type 9 [ORDO Disease]
Orphanet concepts
- ADNP syndrome [ORDO Disease]
- Ablepharon macrostomia syndrome [ORDO Disease]
- Acrocephalopolydactyly [ORDO Disease]
- Acrocephalosyndactyly [ORDO Disease]
- Acrocraniofacial dysostosis [ORDO Disease]
- Acromegaloid facial appearance syndrome [ORDO Disease]
- Acrootoocular syndrome [ORDO Disease]
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome [ORDO Disease]
- Ankyloblepharon filiforme adnatum-cleft palate syndrome [ORDO Disease]
- Antley-Bixler syndrome [ORDO Disease]
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]
- Apert syndrome [ORDO Disease]
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome [ORDO Disease]
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- Ascher syndrome [ORDO Disease]
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome [ORDO Disease]
- Auriculoocular anomalies-cleft lip syndrome [ORDO Disease]
- Aurocephalosyndactyly [ORDO Disease]
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Bainbridge-Ropers syndrome [ORDO Disease]
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
- Barber-Say syndrome [ORDO Disease]
- Bilateral microtia-deafness-cleft palate syndrome [ORDO Disease]
- Blepharonasofacial malformation syndrome [ORDO Disease]
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
- Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- Branchiogenic deafness syndrome [ORDO Disease]
- Branchiootic syndrome [ORDO Disease]
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome [ORDO Disease]
- CK syndrome [ORDO Disease]
- Camptodactyly-joint contractures-facial skeletal defects syndrome [ORDO Disease]
- Carey-Fineman-Ziter syndrome [ORDO Disease]
- Carpenter syndrome [ORDO Disease]
- Cerebellar-facial-dental syndrome [ORDO Disease]
- Cerebrooculonasal syndrome [ORDO Disease]
- Charlie M syndrome [ORDO Disease]
- Cleft palate-short stature-vertebral anomalies syndrome [ORDO Disease]
- Coffin-Lowry syndrome [ORDO Disease]
- Congenital hereditary facial paralysis-variable hearing loss syndrome [ORDO Disease]
- Congenital unilateral hypoplasia of depressor anguli oris [ORDO Disease]
- Contractures-developmental delay-Pierre Robin syndrome [ORDO Disease]
- Cranioacrofacial syndrome [ORDO Disease]
- Craniodigital-intellectual disability syndrome [ORDO Disease]
- Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome [ORDO Disease]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- Craniofaciocervical osteoglyphic dysplasia [ORDO Disease]
- Craniofaciofrontodigital syndrome [ORDO Disease]
- Craniomicromelic syndrome [ORDO Disease]
- Craniosynostosis, Philadelphia type [ORDO Disease]
- Craniosynostosis-dental anomalies [ORDO Disease]
- Craniosynostosis-dysmorphism-brachydactyly syndrome [ORDO Disease]
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome [ORDO Disease]
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome [ORDO Disease]
- Craniosynostosis-intracranial calcifications syndrome [ORDO Disease]
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome [ORDO Disease]
- Craniosynostosis-synostoses-hypertensive nephropathy syndrome [ORDO Disease]
- Curry-Jones syndrome [ORDO Disease]
- Deafness-craniofacial syndrome [ORDO Disease]
- Deafness-ear malformation-facial palsy syndrome [ORDO Disease]
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome [ORDO Disease]
- Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome [ORDO Disease]
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency [ORDO Disease]
- Dysmorphism-cleft palate-loose skin syndrome [ORDO Disease]
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome [ORDO Disease]
- FOXP1 Syndrome [ORDO Disease]
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome [ORDO Disease]
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ORDO Disease]
- Familial scaphocephaly syndrome, McGillivray type [ORDO Disease]
- Flat face-microstomia-ear anomaly syndrome [ORDO Disease]
- Fraser syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [ORDO Disease]
- Frontonasal dysplasia-alopecia-genital anomalies syndrome [ORDO Disease]
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome [ORDO Disease]
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome [ORDO Disease]
- Fryns-Smeets-Thiry syndrome [ORDO Disease]
- Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
- Goldenhar syndrome [ORDO Disease]
- Goodman syndrome [ORDO Disease]
- Gorlin-Chaudhry-Moss syndrome [ORDO Disease]
- Greig cephalopolysyndactyly syndrome [ORDO Disease]
- Greig cephalopolysyndactyly-contiguous gene syndrome [ORDO Disease]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
- Hallermann-Streiff syndrome [ORDO Disease]
- Hallermann-Streiff-like syndrome [ORDO Disease]
- Hao-Fountain syndrome [ORDO Disease]
- Holmes-Gang syndrome [ORDO Disease]
- Hunter-McAlpine syndrome [ORDO Disease]
- Hydrocephaly-low insertion umbilicus syndrome [ORDO Disease]
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
- Hypertrichosis-acromegaloid facial appearance syndrome [ORDO Disease]
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome [ORDO Disease]
- Hypospadias-hypertelorism-coloboma and deafness syndrome [ORDO Disease]
- Intellectual disability, Wolff type [ORDO Disease]
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome [ORDO Disease]
- Intellectual disability-brachydactyly-Pierre Robin syndrome [ORDO Disease]
- Intellectual disability-cupped ears syndrome [ORDO Disease]
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome [ORDO Disease]
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency [ORDO Disease]
- Intellectual disability-facial dysmorphism-hand anomalies syndrome [ORDO Disease]
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome [ORDO Disease]
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome [ORDO Disease]
- Isolated Pierre Robin sequence [ORDO Disease]
- Isolated hereditary congenital facial paralysis [ORDO Disease]
- Jansen-de Vries syndrome [ORDO Disease]
- Juberg-Hayward syndrome [ORDO Disease]
- Kabuki syndrome [ORDO Disease]
- Keipert syndrome [ORDO Disease]
- Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [ORDO Disease]
- Macrosomia-microphthalmia-cleft palate syndrome [ORDO Disease]
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome [ORDO Disease]
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome [ORDO Disease]
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
- Marden-Walker syndrome [ORDO Disease]
- Marshall syndrome [ORDO Disease]
- Micro syndrome [ORDO Disease]
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom [ORDO Disease]
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [ORDO Disease]
- Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- Moebius syndrome [ORDO Disease]
- Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome [ORDO Disease]
- Muenke syndrome [ORDO Disease]
- Nance-Horan syndrome [ORDO Disease]
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome [ORDO Disease]
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
- Oculo-auriculo-vertebral spectrum [ORDO Disease]
- Oculo-oto-facial dysplasia [ORDO Disease]
- Oculoauriculofrontonasal syndrome [ORDO Disease]
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
- Oral-facial-digital syndrome with short stature and brachymesophalangy [ORDO Disease]
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome [ORDO Disease]
- Orofaciodigital syndrome [ORDO Disease]
- Orofaciodigital syndrome type 1 [ORDO Disease]
- Orofaciodigital syndrome type 10 [ORDO Disease]
- Orofaciodigital syndrome type 11 [ORDO Disease]
- Orofaciodigital syndrome type 12 [ORDO Disease]
- Orofaciodigital syndrome type 13 [ORDO Disease]
- Orofaciodigital syndrome type 14 [ORDO Disease]
- Orofaciodigital syndrome type 2 [ORDO Disease]
- Orofaciodigital syndrome type 3 [ORDO Disease]
- Orofaciodigital syndrome type 4 [ORDO Disease]
- Orofaciodigital syndrome type 5 [ORDO Disease]
- Orofaciodigital syndrome type 7 [ORDO Disease]
- Orofaciodigital syndrome type 8 [ORDO Disease]
- Orofaciodigital syndrome type 9 [ORDO Disease]
- Otofaciocervical syndrome [ORDO Disease]
- Otopalatodigital syndrome [ORDO Disease]
- Otopalatodigital syndrome type 1 [ORDO Disease]
- Otopalatodigital syndrome type 2 [ORDO Disease]
- Paralytic facial malformation [ORDO Disease]
- Patterson-Stevenson-Fontaine syndrome [ORDO Disease]
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome type 1 [ORDO Disease]
- Pfeiffer syndrome type 2 [ORDO Disease]
- Pfeiffer syndrome type 3 [ORDO Disease]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome [ORDO Disease]
- Robin sequence-oligodactyly syndrome [ORDO Disease]
- Robinow-Sorauf syndrome [ORDO Disease]
- SMARCA2-related blepharophimosis-intellectual disability syndrome [ORDO Disease]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome [ORDO Disease]
- Saethre-Chotzen syndrome [ORDO Disease]
- Sakati-Nyhan syndrome [ORDO Disease]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schuurs-Hoeijmakers syndrome [ORDO Disease]
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome [ORDO Disease]
- Stickler syndrome [ORDO Disease]
- Symptomatic form of Coffin-Lowry syndrome in female carriers [ORDO Disease]
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome [ORDO Disease]
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome [ORDO Disease]
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
- Trigonocephaly-broad thumbs syndrome [ORDO Disease]
- Trigonocephaly-short stature-developmental delay syndrome [ORDO Disease]
- Van den Ende-Gupta syndrome [ORDO Disease]
- Velo-facial-skeletal syndrome [ORDO Disease]
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome [ORDO Disease]
- Weill-Marchesani syndrome [ORDO Disease]
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome [ORDO Disease]
- White-Sutton syndrome [ORDO Disease]
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [ORDO Disease]
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome [ORDO Disease]
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome [ORDO Disease]
- X-linked intellectual disability-plagiocephaly syndrome [ORDO Disease]
- X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes affecting facial appearance (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Acrocephalopolysyndactyly (disorder) [SNOMED CT concept]
- Craniofacial microsomia 1 [OMIM Phenotype]
- Goldenhar syndrome [DO Concept]
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- orofaciodigital syndrome X [DO Concept]
Validated automatic mappings to NTBT
- Orofaciodigital syndrome type 7 [ORDO Disease]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- goldenhar syndrome [MeSH Descriptor]
- mobius syndrome [MeSH Descriptor]
- orofaciodigital syndromes [MeSH Descriptor]

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