Congenital anomaly of face	Multiple system malformation syndrome
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Multiple malformation syndrome with facial defects as major feature (disorder)
	Multiple malformation syndrome with facial defects as major feature
	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
	syndroom van multipele malformaties met faciaal defect als voornaamst kenmerk syndroom van multipele malformaties met faciaal defect als voornaamste kenmerk

Id	65094009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0
Correlation	SNOMED CT source code to target map code correlation not specified

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11p15.4 microduplication syndrome

11q22.2q22.3 microdeletion syndrome

13q12.3 microdeletion syndrome

14q11.2 microdeletion syndrome

14q24.1q24.3 microdeletion syndrome

14q32 deletion syndrome

15q overgrowth syndrome

16p11.2p12.2 microdeletion syndrome

1p35.2 microdeletion syndrome

21q22.11q22.12 microdeletion syndrome

2p13.2 microdeletion syndrome

2p15p16.1 microdeletion syndrome

3q27.3 microdeletion syndrome

5p13 microduplication syndrome

8q22.1 microdeletion syndrome

8q24.3 microdeletion syndrome

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Ablepharon macrostomia syndrome

Acromelic frontonasal dysplasia

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

Agnathia, holoprosencephaly, situs inversus syndrome

AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome

Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome

Aneurysm osteoarthritis syndrome

Angelman syndrome1

Ankyloblepharon filiforme adnatum with cleft palate syndrome

Anophthalmia plus syndrome

Antley-Bixler syndrome

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

Arrhinia with choanal atresia and microphthalmia syndrome

Ascher's syndrome

Asymmetric crying face association

Autism spectrum disorder due to AUTS2 deficiency

Autosomal recessive chorioretinopathy and microcephaly syndrome

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Barber-Say syndrome

Basel Vanagaite Smirin Yosef syndrome

Beemer Ertbruggen syndrome

Binder syndrome

Blepharonasofacial malformation syndrome

Blepharophimosis, intellectual disability syndrome4

Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome

Cataract, congenital heart disease, neural tube defect syndrome

Cerebro-facio-thoracic dysplasia

Cerebrofacioarticular syndrome

Cerebrooculonasal syndrome

CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome

Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome

Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome

Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome

Cleft lip retinopathy syndrome

Cleft lip sequence

Cleft palate with short stature and vertebral anomaly syndrome

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

Combined deficiency of sialidase AND beta galactosidase

Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Congenital hereditary facial paralysis with variable hearing loss syndrome

Congenital hydrocephalus, low insertion of umbilicus syndrome

Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome

Congenital nonprogressive myopathy with Moebius and Robin sequences

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Contracture with ectodermal dysplasia and orofacial cleft syndrome

Crane Heise syndrome

Craniofacial dysplasia osteopenia syndrome

Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome

Craniofacial dyssynostosis syndrome

Craniofaciofrontodigital syndrome

Craniofrontonasal dysplasia

Craniosynostosis and intracranial calcification syndrome

Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome

Crouzon syndrome1

Cryptorchidism, arachnodactyly, intellectual disability syndrome

Cyprus facial neuromusculoskeletal syndrome

Deafness and intellectual disability Martin Probst type syndrome

Deafness craniofacial syndrome

Delayed membranous cranial ossification

Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

Desbuquois syndrome

Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Diaphragmatic hernia, short bowel, asplenia syndrome

Diencephalic mesencephalic junction dysplasia

DNMT3A-related overgrowth syndrome

DYRK1A-related intellectual disability syndrome1

Dysmorphism, pectus carinatum, joint laxity syndrome

Dysmorphism, short stature, deafness, disorder of sex development syndrome

Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome

Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Ectodermal dysplasia with blindness syndrome

Edinburgh malformation syndrome

Ehlers-Danlos syndrome musculocontractural type

Epilepsy, microcephaly, skeletal dysplasia syndrome

Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

Facial dysmorphism, cleft palate, loose skin syndrome

Facial dysmorphism, conductive hearing loss, heart defect syndrome

Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome

Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome

Faciocardiorenal syndrome

Familial omphalocele syndrome with facial dysmorphism

Fine Lubinsky syndrome

First arch syndrome1

Flat face, microstomia, ear anomaly syndrome

Fountain syndrome

Four X syndrome

Fragile X syndrome

Frank-Ter Haar syndrome

Freeman-Sheldon syndrome

Frontonasal dysplasia sequence10

Fryns macrocephaly

Fryns Smeets Thiry syndrome

Gabriele-de Vries syndrome

German syndrome

Gingival fibromatosis with facial dysmorphism syndrome

Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Goldberg Shprintzen megacolon syndrome

Goldblatt Wallis syndrome

Gollop syndrome

Grob's syndrome

Hall Riggs syndrome

Hallermann Streiff like syndrome

Harrod syndrome

Haspeslagh Fryns Muelenaere syndrome

Hemifacial hyperplasia strabismus syndrome

Hennekam syndrome

Hepatic fibrosis, renal cyst, intellectual disability syndrome

Holoprosencephaly and postaxial polydactyly syndrome

Hypertelorism with microtia and facial clefting syndrome

Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome

Hypomandibular faciocranial dysostosis

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome

Hypotonia, speech impairment, severe cognitive delay syndrome

Ichthyosis cheek eyebrow syndrome

Intellectual disability Buenos Aires type

Intellectual disability Wolff type

Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome

Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Intellectual disability, epilepsy, bulbous nose syndrome

Intellectual disability, expressive aphasia, facial dysmorphism syndrome

Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome

Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome

Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

Intellectual disability, seizures, macrocephaly, obesity syndrome

Intellectual disability, severe speech delay, mild dysmorphism syndrome

Intellectual disability, short stature, hypertelorism syndrome

Isotretinoin-like syndrome

Juberg Marsidi syndrome

Kabuki make-up syndrome

Kagami Ogata syndrome

Kapur Toriello syndrome

Kawashima Tsuji syndrome

Keppen Lubinsky syndrome

King Denborough syndrome

Kleefstra syndrome

Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Koolen De Vries syndrome

Kosaki overgrowth syndrome

Larsen-like syndrome B3GAT3 type

Leprechaunism syndrome

Lethal brain and heart developmental defects syndrome

Lethal polymalformative syndrome Boissel type

Lymphedema, atrial septal defect, facial changes syndrome

Macrocephaly and developmental delay syndrome

Macrocephaly, intellectual disability, autism syndrome

Macrocephaly, intellectual disability, left ventricular non compaction syndrome

Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome

Macrocephaly, short stature, paraplegia syndrome

Malan overgrowth syndrome

Malignant hyperthermia with arthrogryposis and torticollis syndrome

Malignant hyperthermia with arthrogryposis and torticollis syndrome

Mandibular hypoplasia, deafness, progeroid syndrome

Mandibulofacial dysostosis with alopecia

Mandibulofacial dysostosis with microcephaly

Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome

Marfanoid habitus with autosomal recessive intellectual disability syndrome

Marfanoid habitus, inguinal hernia, advanced bone age syndrome

Marshall syndrome

Marshall-Smith syndrome

McDonough syndrome

Megalencephaly capillary malformation

Melnick-Fraser syndrome

Melnick-Needles syndrome

Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome

Metopic ridging, ptosis, facial dysmorphism syndrome

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephalic osteodysplastic dysplasia Saul Wilson type

Microcephalic primordial dwarfism Alazami type

Microcephalic primordial dwarfism Dauber type

Microcephalic primordial dwarfism Montreal type

Microcephalus cleft palate syndrome

Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

Microcephaly with cervical spine fusion anomaly

Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome

Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome

Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome

Mucopolysaccharidosis-like plus disease

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome type 2

Multiple malformation syndrome with facial-limb defects as major feature139

Neonatal Marfan syndrome

Neu-Laxova syndrome

Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

Nijmegen breakage syndrome-like disorder

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Oculo-auriculo-vertebral spectrum

Oculo-palato-digital syndrome

Oculocerebrofacial syndrome Kaufman type

Oculodento-osseous dysplasia2

Oculomaxillofacial dysostosis

Okamoto syndrome

Osteosclerosis, developmental delay, craniosynostosis syndrome

Otocephalic syndrome

Otofaciocervical syndrome

Overgrowth, macrocephaly, facial dysmorphism syndrome

Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome

Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome

Pallister W syndrome

Perlman syndrome

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

Pettigrew syndrome

PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome

Pierpont syndrome

Pilotto syndrome

Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

Polyvalvular heart disease syndrome

Prader-Willi-like syndrome3

Progeroid and marfanoid aspect, lipodystrophy syndrome

Pseudoprogeria syndrome

Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome

Puerto Rican infant hypotonia syndrome

Puerto Rican infant hypotonia syndrome

QRICH1-related intellectual disability, chondrodysplasia syndrome

Ramos Arroyo syndrome

Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome

RIDDLE syndrome

Robin sequence6

Roifman syndrome

Rozin Hertz Goodman syndrome

Sanjad Sakati syndrome

SATB2-associated syndrome

Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome

Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome

Severe intellectual disability, progressive spastic diplegia syndrome

Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome

Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

Severe X-linked intellectual disability Gustavson type

Short stature Brussels type

Short stature with webbed neck and congenital heart disease syndrome

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

Short tarsus with absence of lower eyelashes syndrome

Shprintzen Goldberg craniosynostosis syndrome

Shprintzen Goldberg omphalocele syndrome

Simpson-Golabi-Behmel syndrome

Solitary median maxillary central incisor syndrome

Sonoda syndrome

Spondyloepimetaphyseal dysplasia Genevieve type

Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome

STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome

Stickler syndrome type 3

Stimmler syndrome

Syndromic multisystem autoimmune disease due to ITCH deficiency

Syndromic orbital border hypoplasia

Syndromic X-linked intellectual disability type 11

Tall stature, intellectual disability, renal anomalies syndrome

Teebi Shaltout syndrome

Temple syndrome

Temtamy syndrome

Thakker Donnai syndrome

Thickened earlobe with conductive deafness syndrome

Thin ribs, tubular bones, dysmorphism syndrome

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Thomas syndrome

TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Toriello Carey syndrome

Treacher Collins syndrome

Van den Ende-Gupta syndrome

Van der Woude syndrome

Velofacioskeletal syndrome

Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome

Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome

WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome1

Weaver Williams syndrome

Wellesley Carman French syndrome

White forelock with malformations syndrome

White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

Wiedemann Steiner syndrome

Williams syndrome

Wilson Turner syndrome

Winchester syndrome

Witteveen Kolk syndrome

Wolf Hirschhorn syndrome

X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability hypotonic face syndrome

X-linked intellectual disability Nascimento type

X-linked intellectual disability Seemanova type

X-linked intellectual disability Siderius type

X-linked intellectual disability Stoll type

X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome

X-linked intellectual disability with marfanoid habitus

X-linked intellectual disability with plagiocephaly syndrome

X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome

X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

Xq25 microduplication syndrome

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation