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22q11 Deletion Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita Whistling Face
arthrogryposis multiplex congenita-1
arthrogryposis multiplex congenita-3
arthrogryposis multiplex congenita-4
arthrogryposis multiplex congenita-5
arthrogryposis multiplex congenita-6
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, Impaired Intellectual Development, and Seizures
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis, X-Linked, Type V
Asymmetric Short Stature Syndrome
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Boylan Dew Greco Syndrome
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly-Ichthyosis Syndrome
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
Cardioacrofacial Dysplasia +
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
combined oxidative phosphorylation deficiency 2
Congenital Arthrogryposis with Anterior Horn Cell Disease
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Congenital Neuropathy with Arthrogryposis Multiplex
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Cyprus Facial Neuromusculoskeletal Syndrome
Diaphanospondylodysostosis
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ehlers-Danlos syndrome musculocontractural type 2
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
hereditary neuropathy with liability to pressure palsies
Humeroradial Synostosis with Craniofacial Anomalies
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Jequier Kozlowski Skeletal Dysplasia
Johnston Aarons Schelley Syndrome
Jones Hersh Yusk Syndrome
Ladda Zonana Ramer Syndrome
Larsen-like syndrome B3GAT3 type
Leichtman Wood Rohn Syndrome
lethal congenital contracture syndrome +
linear skin defects with multiple congenital anomalies 2
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Massa Casaer Ceulemans Syndrome
Maxillofacial Abnormalities +
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiple Pterygium Syndrome, Lethal Type +
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
neurogenic-type arthrogryposis multiplex congenita-2
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Pelvic Dysplasia Arthrogryposis of Lower Limbs
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Short Stature and Facioauriculothoracic Malformations
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spondyloocular Syndrome, Autosomal Recessive
Spranger Schinzel Myers Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Ventriculomegaly and Arthrogryposis
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
X-linked Microhydranencephaly
Zimmerman Laband Syndrome +
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