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22q11 Deletion Syndrome +
Abruzzo-Erickson syndrome
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Baraitser-Winter syndrome +
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Camptodactyly Syndrome Guadalajara Type 2
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
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 LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS 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 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 Upper Extremity Deformities +
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
Diaphanospondylodysostosis
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Distal Transverse Limb Defects with Mental Retardation and Spasticity
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
ENDOVE SYNDROME, LIMB-BRAIN TYPE
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 X-linked
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Grubben de Cock Borghgraef Syndrome
Hall Riggs Mental Retardation Syndrome
Hand and Foot Deformity with Flat Facies
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
Hengel-Maroofian-Schols syndrome
Humeroradial Synostosis with Craniofacial Anomalies
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Tapered Fingers Midline Groove Up
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
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
Larsen-like syndrome B3GAT3 type
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Leichtman Wood Rohn Syndrome
Lethal Faciocardiomelic Dysplasia
linear skin defects with multiple congenital anomalies 2
Lower Extremity Deformities, Congenital +
Lynch Lee Murday syndrome
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maxillofacial Abnormalities +
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation Spasticity Ectrodactyly
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelia-Synostoses Syndrome
Metaphyseal Anadysplasia +
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
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
Nephrosis with Deafness and Urinary Tract and Digital Malformations
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Palant Cleft Palate Syndrome
postaxial acrofacial dysostosis
Posterior Exchondrosis of Pinna
Powell Chandra Saal Syndrome
Preauricular Fistulae, Congenital
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radial Ray Deficiency, X-Linked
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Renal Dysplasia - Limb Defects Syndrome
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Ruzicka Goerz Anton 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
split hand-foot malformation +
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 6
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Zimmerman Laband Syndrome +
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