Concept information
Preferred term
Multiple malformation syndrome with facial defects as major feature
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 13q12.3 microdeletion syndrome (disorder)
- 14q11.2 microdeletion syndrome (disorder)
- 14q24.1q24.3 microdeletion syndrome
- 15q overgrowth syndrome
- 16p11.2p12.2 microdeletion syndrome (disorder)
- 21q22.11q22.12 microdeletion syndrome
- 2p13.2 microdeletion syndrome
- 2p15p16.1 microdeletion syndrome (disorder)
- 3q27.3 microdeletion syndrome (disorder)
- 5p13 microduplication syndrome (disorder)
- 8q22.1 microdeletion syndrome (disorder)
- 9q31.1q31.3 microdeletion syndrome
- Ablepharon macrostomia syndrome (disorder)
- Acromelic frontonasal dysplasia (disorder)
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
- Agnathia, holoprosencephaly, situs inversus syndrome (disorder)
- Al Gazali Aziz Salem syndrome
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
- Aneurysm osteoarthritis syndrome (disorder)
- Ankyloblepharon filiforme adnatum with cleft palate syndrome
- Anophthalmia plus syndrome (disorder)
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
- Arrhinia with choanal atresia and microphthalmia syndrome (disorder)
- Arthrogryposis multiplex congenita and whistling face syndrome (disorder)
- Ascher's syndrome
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
- Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
- Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)
- Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
- Bird-headed dwarfism Montreal type
- Blepharonasofacial malformation syndrome (disorder)
- BMRS - blepharophimosis, mental retardation syndrome
- Bone fragillity, contractures, arterial rupture, deafness syndrome
- BSG syndrome
- Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)
- Cataract, congenital heart disease, neural tube defect syndrome (disorder)
- Cataract with aberrant oral frenula and growth delay syndrome (disorder)
- Cerebrofacioarticular syndrome (disorder)
- Cerebro-facio-thoracic dysplasia (disorder)
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)
- Cerebrooculonasal syndrome (disorder)
- Char syndrome
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
- Cleft lip retinopathy syndrome (disorder)
- Cleft palate with short stature and vertebral anomaly syndrome (disorder)
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
- Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
- Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)
- Crane Heise syndrome (disorder)
- Craniocerebellocardiac dysplasia
- Craniofacial dysplasia osteopenia syndrome
- Craniofacial dyssynostosis syndrome (disorder)
- Cranio-facio-digito-genital syndrome
- Craniofaciofrontodigital syndrome (disorder)
- Craniofrontonasal dysplasia (disorder)
- Craniosynostosis and intracranial calcification syndrome (disorder)
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)
- Cryptorchidism, arachnodactyly, intellectual disability syndrome
- Curatolo Cilio Pessagno syndrome
- Cyprus facial neuromusculoskeletal syndrome (disorder)
- Deafness and intellectual disability Martin Probst type syndrome (disorder)
- Deafness craniofacial syndrome (disorder)
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)
- Delayed membranous cranial ossification (disorder)
- Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
- Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
- Diaphragmatic hernia, short bowel, asplenia syndrome (disorder)
- Diencephalic mesencephalic junction dysplasia (disorder)
- Dysmorphism, cleft palate, loose skin syndrome
- Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
- Ectodermal dysplasia with blindness syndrome (disorder)
- Ehlers-Danlos syndrome musculocontractural type (disorder)
- Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)
- Facial dysmorphism, conductive hearing loss, heart defect syndrome
- Facial dysmorphism, intellectual deficit, short stature and hearing loss
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
- Familial omphalocele syndrome with facial dysmorphism (disorder)
- FILS syndrome
- Fine Lubinsky syndrome (disorder)
- Fragile X syndrome
- Frank-Ter Haar syndrome (disorder)
- Fried syndrome (disorder)
- Frontofacionasal dysplasia syndrome (disorder)
- Frontonasal dysplasia sequence
- German syndrome (disorder)
- Gingival fibromatosis with facial dysmorphism syndrome (disorder)
- Goldberg Shprintzen megacolon syndrome (disorder)
- Hall Riggs syndrome (disorder)
- Helsmoortel-van der Aa syndrome
- Hennekam lymphangiectasia-lymphoedema syndrome
- Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
- Holoprosencephaly and postaxial polydactyly syndrome (disorder)
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
- Hypertelorism with microtia and facial clefting syndrome (disorder)
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)
- Hypomandibular faciocranial dysostosis (disorder)
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
- Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)
- Hypospadias and intellectual disability syndrome Goldblatt type (disorder)
- Ichthyosis cheek eyebrow syndrome (disorder)
- IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies )syndrome
- Intellectual disability Buenos Aires type (disorder)
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
- Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)
- Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
- Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
- Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
- Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
- Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)
- Intellectual disability, short stature, hypertelorism syndrome
- Intellectual disability Wolff type
- Isotretinoin embryopathy-like syndrome (disorder)
- Juberg Marsidi syndrome (disorder)
- Kabuki make-up syndrome
- Kagami Ogata syndrome
- Kapur Toriello syndrome (disorder)
- King Denborough syndrome
- Kleefstra syndrome (disorder)
- Koolen De Vries syndrome (disorder)
- Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
- Lethal polymalformative syndrome Boissel type
- Lymphedema, atrial septal defect, facial changes syndrome (disorder)
- Macrocephaly and developmental delay syndrome
- Macrocephaly, intellectual disability, autism syndrome (disorder)
- Macrocephaly, short stature, paraplegia syndrome (disorder)
- Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
- Malan overgrowth syndrome
- Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
- Mandibulofacial dysostosis, Guion-Almeida type
- Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
- Marfanoid habitus with autosomal recessive intellectual disability syndrome
- Maxillonasal dysplasia syndrome (disorder)
- MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
- McDonough syndrome (disorder)
- M-CM (Macrocephaly-capillary malformation)
- McPherson Clemens syndrome
- MDP (mandibular hypoplasia, deafness, progeroid) syndrome
- Melnick-Needles syndrome
- Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome
- Microbrachycephaly, ptosis, cleft lip syndrome (disorder)
- Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
- Microcephalic primordial dwarfism Alazami type (disorder)
- Microcephalic primordial dwarfism Dauber type
- Microcephalus cleft palate syndrome (disorder)
- Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
- Microcephaly with deafness and intellectual disability syndrome (disorder)
- Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2
- Neonatal Marfan syndrome
- Neu-Laxova syndrome
- Nijmegen breakage syndrome-like disorder (disorder)
- Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia
- N syndrome (disorder)
- Oculocerebrofacial syndrome Kaufman type (disorder)
- Oculomaxillofacial dysostosis (disorder)
- Oculo-palato-digital syndrome
- Okamoto syndrome (disorder)
- Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
- Otofaciocervical syndrome
- Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
- Pallister W syndrome (disorder)
- Perlman syndrome (disorder)
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
- Pilotto syndrome
- Polyvalvular heart disease syndrome (disorder)
- Potter sequence cleft lip and palate cardiopathy syndrome (disorder)
- Prader-Willi-like syndrome
- Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
- Puerto Rican infant hypotonia syndrome (disorder)
- Ramos Arroyo syndrome (disorder)
- RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
- Roifman Chitayat syndrome
- Roifman syndrome (disorder)
- SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)
- Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
- Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
- Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
- Severe X-linked intellectual disability Gustavson type (disorder)
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
- Short stature Brussels type (disorder)
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)
- Short tarsus with absence of lower eyelashes syndrome (disorder)
- Shprintzen Goldberg craniosynostosis syndrome (disorder)
- Shprintzen Goldberg omphalocele syndrome (disorder)
- Simosa Penchaszadeh Bustos syndrome
- Simpson-Golabi-Behmel syndrome (disorder)
- SOFT syndrome
- Solitary median maxillary central incisor syndrome
- Sonoda syndrome
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder)
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
- Stickler syndrome non-ocular type
- Stimmler syndrome
- Syndromic hypoplasia of orbital border (disorder)
- Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
- Syndromic X-linked intellectual disability type 11 (disorder)
- Tatton Brown Rahman overgrowth syndrome
- Teebi Shaltout syndrome
- Temple syndrome (disorder)
- Temtamy syndrome
- Thakker Donnai syndrome
- Thickened earlobe with conductive deafness syndrome (disorder)
- Thin ribs, tubular bones, dysmorphism syndrome
- THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
- Toriello Carey syndrome
- Trisomy 11p15.4
- Trisomy 17p (disorder)
- Typus Edinburgensis
- Van den Ende-Gupta syndrome (disorder)
- Velofacioskeletal syndrome (disorder)
- Weaver Williams syndrome (disorder)
- White forelock with malformations syndrome
- Wiedemann Steiner syndrome
- Williams syndrome
- Wilson Turner syndrome (disorder)
- Winchester syndrome
- Wolf Hirschhorn syndrome (disorder)
- X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
- X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)
- X-linked intellectual disability due to GRIA3 mutations
- X-linked intellectual disability Nascimento type (disorder)
- X-linked intellectual disability Seemanova type (disorder)
- X-linked intellectual disability Siderius type (disorder)
- X-linked intellectual disability Stoll type (disorder)
- X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)
- X-linked intellectual disability with plagiocephaly syndrome (disorder)
- X-linked mental retardation with marfanoid habitus syndrome (disorder)
- Xylosyltransferase 1 congenital disorder of glycosylation
Associated morphology
Finding site
Is a
- 398302004
- Multiple system malformation syndrome
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/65094009
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