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acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
anterior segment dysgenesis 4
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
autosomal dominant congenital deafness with onychodystrophy
Axenfeld-Rieger syndrome type 1
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
blepharocheilodontic syndrome +
blepharophimosis-intellectual disability syndrome, SBBYS type
Brachycephaly, Trichomegaly, and Developmental Delay
Brachytelephalangy Characteristic Facies Kallmann
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly, Complex
Carabelli Anomaly of Maxillary Molar Teeth
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
cerebellofaciodental syndrome
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Chitayat Meunier Hodgkinson Syndrome
chromosome 17q11.2 deletion syndrome
chromosome 5p13 duplication syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
cold-induced sweating syndrome +
Combined Pituitary Hormone Deficiency, 1
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
Congenital Micromelic Dysplasia with Dislocation of Radius +
Cortical Blindness, Retardation, and Postaxial Polydactyly
Cranioacrofacial Syndrome
Craniosynostosis and Dental Anomalies
Craniosynostosis, Adelaide Type
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Cyprus Facial Neuromusculoskeletal Syndrome
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
Deafness-Craniofacial Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
dental enamel hypoplasia +
dentinogenesis imperfecta +
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
distal arthrogryposis type 3
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dwarfism Stiff Joint Ocular Abnormalities
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ectrodactyly Cardiopathy Dysmorphism
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Euhidrotic Ectodermal Dysplasia
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Feingold Trainer Syndrome
Femur Bifid with Monodactylous Ectrodactyly
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
Gingival Fibromatosis with Distinctive Facies
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Grubben de Cock Borghgraef Syndrome
hand-foot-genital syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart-Hand Syndrome, Slovenian Type
hereditary spastic paraplegia 23
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Seizures, and Precocious Puberty
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Iris Dysplasia Hypertelorism Deafness
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
Lethal Faciocardiomelic Dysplasia
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
macrocephaly-autism syndrome
Malocclusion and Short Stature
Mammary-Digital-Nail Syndrome
Marfanoid Mental Retardation Syndrome, Autosomal
McPherson Clemens Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Metaphyseal Acroscyphodysplasia
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Multiple Pterygium Syndrome, X-Linked
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
Neurofaciodigitorenal Syndrome
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
oculodentodigital dysplasia +
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Palant Cleft Palate Syndrome
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partington Anderson Syndrome
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Progeroid Facial Appearance with Hand Anomalies
Pseudotrisomy 13 Syndrome
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Say Field Coldwell syndrome
Schinzel-Giedion Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Second Metatarsal-Metacarpal Syndrome
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Snijders Blok-Campeau Syndrome
Spinocerebellar Ataxia with Dysmorphism
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
spondyloepiphyseal dysplasia tarda with characteristic facies
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic X-linked intellectual disability Turner type
tarsal-carpal coalition syndrome +
Taurodontism, Microdontia, and Dens Invaginatus
Teebi Hypertelorism Syndrome +
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
Tel Hashomer Camptodactyly Syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Thomas Jewett Raines Syndrome
Thrombocytopenia Robin Sequence
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
Walbaum Titran Durieux Crepin Syndrome
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Winter Harding Hyde Syndrome
Zazam Sheriff Phillips Syndrome
Zimmerman Laband Syndrome +
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