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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia +
Acropectorovertebral Dysplasia
Adducted Thumbs Syndrome +
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant non-syndromic intellectual disability 22
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome type 1
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Ben Ari Shuper Mimouni Syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Bird Headed Dwarfism Montreal Type
Birk-Landau-Perez Syndrome
blepharophimosis-intellectual disability syndrome, SBBYS type
Bloch-Sulzberger syndrome +
Brachycephaly, Trichomegaly, and Developmental Delay
Brachydactylous Dwarfism Mseleni Type
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachytelephalangy Characteristic Facies Kallmann
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cantu Sanchez-Corona Fragoso Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
caudal regression syndrome
Cerebellofaciodental Syndrome
Cerebrofaciothoracic Dysplasia
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Chemke Oliver Mallek Syndrome
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Chondrodysplasia, Megarbane-Dagher-Melki Type
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication 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 +
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
cold-induced sweating syndrome +
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Combined Pituitary Hormone Deficiency, 1
Combined Pituitary Hormone Deficiency, 4
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypothyroidism +
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital secretory sodium diarrhea 3
Cornelia de Lange syndrome +
Cortical Blindness, Retardation, and Postaxial Polydactyly
Costocoracoid Ligament Congenitally Short
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Cubitus Valgus with Mental Retardation and Unusual Facies
Cyprus Facial Neuromusculoskeletal Syndrome
Czech Dysplasia, Metatarsal Type
De Sanctis-Cacchione syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
Deafness-Craniofacial Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
diaphyseal medullary stenosis with malignant fibrous histiocytoma
Dincsoy Salih Patel Syndrome
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
distal arthrogryposis type 7
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
Dwarfism, Familial, with Muscle Spasms
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyschondrosteosis and Nephritis
Dyssegmental Dysplasia with Glaucoma
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
Ehlers-Danlos syndrome spondylodysplastic type 3
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Familial Osteodysplasia, Anderson Type
Familial Synovial Chondromatosis with Dwarfism
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Femur Bifid with Monodactylous Ectrodactyly
Femur Fibula Ulna Syndrome
fibrochondrogenesis + An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)
Fibrous Dysplasia of Bone +
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Frontootopalatodigital Osteodysplasia
Gardner Morrisson Abbot Syndrome
geroderma osteodysplasticum
Ghosal Hematodiaphyseal Dysplasia
Gingival Fibromatosis with Distinctive Facies
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Gorlin Chaudhry Moss Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
hereditary spastic paraplegia 23
Hersh Podruch Weisskopk Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hyperostosis Frontalis Interna +
Hyperphosphatasia with Mental Retardation +
hypertrichotic osteochondrodysplasia Cantu type
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Insulin-Like Growth Factor I, Resistance To
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
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 IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Iris Dysplasia Hypertelorism Deafness
isolated growth hormone deficiency +
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 2
Keratoconus Posticus Circumscriptus with Associated Malformations
Keratosis Follicularis Dwarfism Cerebral Atrophy
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Light Fixation Seizure Syndrome
linear nevus sebaceous syndrome +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
macrocephaly-autism syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Malocclusion and Short Stature
Marfanoid Mental Retardation Syndrome, Autosomal
Marles Greenberg Persaud Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Savarirayan Type
Mesomelic Limb Shortening and Bowing
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Cervical Spine Fusion Anomalies
Microcephaly Deafness Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Micromelia Syndrome
Microdontia Hypodontia Short Stature
Micromelic Dwarfism Fryns Type
Microspherophakia with Hernia
Miura type epiphyseal chondrodysplasia
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple epiphyseal dysplasia +
multiple pterygium 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
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Oculoskeletodental Syndrome
Oliver-McFarlane syndrome
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
Osteolysis Syndrome, Recessive
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Partington Anderson Syndrome
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
Piepkorn Karp Hickok syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
polycystic kidney disease +
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Premature Aging, Okamoto Type
Progeroid Facial Appearance with Hand Anomalies
progressive pseudorheumatoid arthropathy of childhood
Proportionate Dwarfism, with Hip Dislocation
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
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
Renal Hypophosphatemia with Intracerebral Calcifications
Renal Tubular Dysgenesis with Choanal Atresia and Athelia
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Ritscher-Schinzel syndrome +
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell syndrome
Schaefer Stein Oshman Syndrome
Schinzel-Giedion Syndrome
schneckenbecken dysplasia
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schwartz-Jampel syndrome 1
Seckel Like Syndrome Type Buebel
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Sharma Kapoor Ramji Syndrome
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
Short Stature Syndrome, Brussels Type
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Silverman-Handmaker type dyssegmental dysplasia
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Smith-Lemli-Opitz syndrome +
Snijders Blok-Campeau Syndrome
Spinal Dysplasia, Anhalt Type
Spinocerebellar Ataxia with Dysmorphism
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
spondylocarpotarsal synostosis syndrome
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy
Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondyloepiphyseal Dysplasia, Nishimura Type
Spondyloepiphyseal Dysplasia, Stanescu Type
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaepiphyseal dysplasia, short limb-hand type
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spondylometaphyseal Dysplasia with Corneal Dystrophy
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia, Algerian Type
Spondylometaphyseal Dysplasia, Axial
Spondylometaphyseal Dysplasia, East-African Type
Spondylometaphyseal Dysplasia, Sedaghatian Type
Spondylometaphyseal Dysplasia, Type A4
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Squalene Synthase Deficiency
STANKIEWICZ-ISIDOR SYNDROME
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis Syndrome
SULEIMAN-EL-HATTAB SYNDROME
syndromic X-linked intellectual disability Turner type
Teebi Naguib Al Awadi syndrome
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
terminal osseous dysplasia
thanatophoric dysplasia +
Thomas Jewett Raines Syndrome
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Thrombocytopenia Robin Sequence
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tracheobronchopathia Osteoplastica
Tricho-Dento-Osseous Syndrome 1
trichohepatoenteric syndrome +
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type III
Triphalangeal Thumbs Brachyectrodactyly
Tryptophanuria with Dwarfism
Ulna Metaphyseal Dysplasia Syndrome
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weissenbacher-Zweymuller syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Winter Harding Hyde Syndrome
Wolcott-Rallison syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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