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22q11 Deletion Syndrome +
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
arterial tortuosity syndrome
Arthrogryposis Multiplex Congenita Whistling Face
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baraitser-Winter syndrome +
Bird Headed Dwarfism Montreal Type
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Brachydactylous Dwarfism Mseleni Type
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Brittle Cornea Syndrome +
Bullous Dystrophy, Hereditary Macular Type
calvarial doughnut lesions with bone fragility
Camptodactyly Syndrome Guadalajara Type 2
Camurati-Engelmann disease +
Cantu Sanchez-Corona Fragoso Syndrome
Cardioacrofacial Dysplasia +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism 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
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital hypothyroidism +
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Micromelic Dysplasia with Dislocation of Radius +
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
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
Crossed Polydactyly, Type I
Curly Hair-Acral Keratoderma-Caries Syndrome
Cutaneous Hemangiomatosis with Associated Features
Czech Dysplasia, Metatarsal Type
Daish Hardman Lamont Syndrome
De Sanctis-Cacchione syndrome
Desbuquois dysplasia + An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diaphanospondylodysostosis
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diphthamide deficiency syndrome +
diphthamide deficiency syndrome 1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal arthrogryposis type 6
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyschondrosteosis and Nephritis
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann 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
Familial Dwarfism with Muscle Spasms
Familial Osteodysplasia, Anderson Type
Familial Recurrent Dislocation of Patella
Familial Synovial Chondromatosis with Dwarfism
Faye-Petersen Ward Carey Syndrome
fetal encasement syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
GARG-MISHRA PROGEROID SYNDROME
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
Hirschsprung Disease Polydactyly Heart Disease
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
Humeroradial Synostosis with Craniofacial Anomalies
Hyperostosis Frontalis Interna
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic or aplastic tibia with polydactyly
Hypospadias-Mental Retardation Syndrome
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
immunodeficiency-centromeric instability-facial anomalies syndrome +
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
isolated growth hormone deficiency +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jones Hersh Yusk Syndrome
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kozlowski Tsuruta Taki Syndrome
Kozlowski-Krajewska Syndrome
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laurence Prosser Rocker Syndrome
Leichtman Wood Rohn Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
linear skin defects with multiple congenital anomalies 2
Liver Fibrocystic Disease and Polydactyly
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maroteaux Fonfria Syndrome
Maxillofacial Abnormalities +
McKusick-Kaufman syndrome
Meckel-Like Cerebrorenodigital Syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
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, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Mexican Cardiomelic Dysplasia
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
microcephaly, short stature, and limb abnormalities
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Miura type epiphyseal chondrodysplasia
Mollica-Pavone-Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
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-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 +
Oculopalatocerebral Syndrome
Ohdo syndrome, SBBYS variant
Oliver-McFarlane syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Ossification of Posterior Longitudinal Ligament +
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pallister-Hall syndrome +
Panic Disorder with Joint Laxity
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Polydactyly Myopia Syndrome
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
progressive osseous heteroplasia
progressive pseudorheumatoid arthropathy of childhood
Proportionate Dwarfism with Hip Dislocation
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Pseudotrisomy 13 Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Reardon Hall Slaney syndrome
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Santos Mateus Leal Syndrome
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
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, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simosa Cranio Facial Syndrome
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
Spinal Dysplasia, Anhalt Type
Splenogonadal Fusion with Limb Defects and Micrognathia
Split-Foot Malformation with Mesoaxial Polydactyly
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepimetaphyseal dysplasia with joint laxity +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepiphyseal dysplasia +
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia +
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
Superior Transverse Scapular Ligament, Calcification Of, Familial
Syndactyly-Polydactyly-Earlobe Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Synpolydactyly with Foot Anomalies
Teebi hypertelorism syndrome +
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Thai Symphalangism Syndrome
thanatophoric dysplasia +
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Tibia Absent Polydactyly Arachnoid Cyst
Tollner Horst Manzke Syndrome
Tracheobronchopathia Osteoplastica
trichodontoosseous syndrome
Trichorhinophalangeal Syndrome +
Tryptophanuria with Dwarfism
Ulna Metaphyseal Dysplasia Syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weill-Marchesani syndrome +
Weissenbacher-Zweymuller syndrome +
Wiedemann Grosse Dibbern Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Zimmerman Laband Syndrome +
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