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Gene: Sp3 MGI:1277166

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

trans-acting transcription factor 3

Synonyms:

D130027J01Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sp3 (0 diseases)
Human diseases predicted to be associated with Sp3 (1215 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,...	OMIM:184260
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr...	ORPHA:166272
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Pr...	OMIM:234250
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfect...	OMIM:259440
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon...	ORPHA:71267
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-...	OMIM:600561
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor...	OMIM:313420
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Kyphosis, Cryptorc...	OMIM:611890
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Osteoporosis, Sh...	OMIM:612463
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ...	OMIM:166220
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Prominent nose, Carious teeth, ...	OMIM:203550
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating asp...	OMIM:614727
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
48,Xyyy Syndrome	Depressed nasal bridge, Short neck, Asthma, Recurrent upper respiratory tract infections, Thick l...	ORPHA:99329
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b...	ORPHA:163649
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Depressed nasal ridge,...	ORPHA:1832
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa...	OMIM:610682
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ...	OMIM:119600
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Wide nasal br...	OMIM:277440
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl...	OMIM:156510
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Kyphosis, Thin ribs, Pl...	OMIM:616294
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Coxa vara, In...	OMIM:610968
Frank-Ter Haar Syndrome	Mandibular prognathia, Genu recurvatum, Short philtrum, Clinodactyly of the 5th finger, Premature...	ORPHA:137834
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion...	ORPHA:75840
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:264700
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Hyperekplexia 4	Inguinal hernia, Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis,...	OMIM:618011
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen...	OMIM:210600
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ...	ORPHA:2643
Mulibrey Nanism	Hepatomegaly, Wide nose, Depressed nasal bridge, Dental crowding, Single transverse palmar crease...	OMIM:253250
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Craniosyno...	ORPHA:1515
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Trismus, Vertebral wed...	OMIM:616583
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo...	OMIM:619293
Melnick-Needles Syndrome	Micrognathia, Anisospondyly, Abnormal rib morphology, Cone-shaped epiphyses of the phalanges of t...	ORPHA:2484
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Osteo...	OMIM:103580
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Depressed nasal ...	OMIM:618853
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Overlappin...	OMIM:618291
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of ...	OMIM:619269
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia, Pal...	OMIM:226650
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal f...	ORPHA:3134
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Syndactyly, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri...	ORPHA:666
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Hyperlordosis, Pierre-Robin sequence, Small hand,...	OMIM:619980
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Micro...	ORPHA:93267
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Hamamy Syndrome	Osteopenia, Microcytic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Hyperlordosis, Abnormality of the dentition, Ename...	ORPHA:557003
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Choanal atresia, Abnormal...	ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Death in infancy, Sandal gap, Conical tooth, Rec...	OMIM:617475
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Joint hypermobility, Prominent nasal bridge, Joint stiffness, ...	OMIM:619184
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, High p...	ORPHA:1327
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Hernia, Anteverted nares, Abnormal d...	ORPHA:582
Seckel Syndrome 5	11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cryptorchidism,...	OMIM:613823
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Vertebral compression fracture, Reduced bone miner...	OMIM:112240
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Wide nose, Eosinophilia, Craniosynostosis, Recurr...	OMIM:147060
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Oste...	OMIM:616507
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Osteoporosis, Sh...	OMIM:612462
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Anteverted nares, Dental crowding, Kyphoscoliosis, Splen...	OMIM:616354
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Aplastic clav...	OMIM:265800
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, Choanal stenosis, High palate, Micro...	OMIM:259775
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Death in childhood, ...	OMIM:214150
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental...	ORPHA:319195
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Multiple joint contractures, Abnormality of the tongue muscle, Cr...	ORPHA:370968
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, M...	ORPHA:96334
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Osteoglosphonic Dysplasia	Inguinal hernia, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Rhizomelia, C...	ORPHA:2645
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros...	OMIM:132400
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ...	OMIM:616081
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
48,Xxyy Syndrome	Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal dental enamel morph...	ORPHA:10
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala...	OMIM:190351
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Hypophosphatasia, Infantile	Death in infancy, Recurrent respiratory infections, Apnea, Craniosynostosis, Bowing of the legs, ...	OMIM:241500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, Death in child...	OMIM:613320
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Kniest Dysplasia	Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti...	OMIM:156550
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Enam...	ORPHA:79402
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co...	ORPHA:1299
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S...	OMIM:166250
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Increased connective tissue, Carious teeth, Scarring alopecia of s...	OMIM:226670
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper...	ORPHA:88630
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Premature ost...	OMIM:184840
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,...	ORPHA:79405
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abn...	ORPHA:2097
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Cleft lip, Asthma, Cleft palate, In...	OMIM:618761
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite...	ORPHA:266
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro...	ORPHA:1077
Schneckenbecken Dysplasia	Short neck, Snail-like ilia, Dumbbell-shaped long bone, Advanced tarsal ossification, Flat acetab...	OMIM:269250
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam...	ORPHA:1133
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t...	ORPHA:2616
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Scoliosis, Palmoplantar cuti...	OMIM:229200
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion...	ORPHA:263463
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,...	ORPHA:79406
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Scarf Syndrome	Inguinal hernia, Prominent nasal bridge, Short neck, Cryptorchidism, Wide nasal bridge, Abnormal ...	OMIM:312830
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Wide na...	OMIM:618393
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:2107
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptor...	OMIM:194350
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Anteverted nares, Depressed ...	OMIM:618961
Saul-Wilson Syndrome	Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co...	OMIM:618150
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ...	OMIM:600373
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Short neck, Micrognathia, Flexion contractu...	OMIM:616897
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon...	ORPHA:85172
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widel...	OMIM:618205
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Palmoplantar keratoderma	OMIM:613576
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Convex nasal ridge, Craniosynostosis	OMIM:600252
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar...	ORPHA:2780
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Cry...	OMIM:607812
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Anteverted nares, Met...	OMIM:239850
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Central diaph...	OMIM:614608
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Death in infancy, Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul...	OMIM:253300
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir...	ORPHA:2590
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Gingival overgrowt...	OMIM:618186
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre...	OMIM:619773
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Short neck, Wide nasal bridge, Orofacial cleft, Resp...	OMIM:618804
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Anteverted nares, Abnormal dental enamel morphology, Prominent...	ORPHA:2180
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,...	ORPHA:79411
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Bilateral single transverse palmar cre...	ORPHA:2511
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79444
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocat...	OMIM:615777
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Hepatic f...	OMIM:218330
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurr...	OMIM:602271
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Bulbous nose, Deep phil...	OMIM:102370
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em...	ORPHA:436
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Rhizomelia, Shor...	OMIM:264180
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab...	ORPHA:2050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon...	ORPHA:508533
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, High ...	ORPHA:93315
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia ...	OMIM:180849
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o...	OMIM:253200
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Premature loss of prim...	ORPHA:93160
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Broad nasal tip, Carious teeth, Hepatitis, Palmoplantar hyperke...	ORPHA:363523
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Death in infancy, Pancytopenia, Hepatomegaly, Postaxial polydactyl...	OMIM:614576
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho...	OMIM:615222
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Kyphosis, Crypt...	ORPHA:90322
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Increased bone mineral density, Leukocy...	OMIM:259720
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn...	ORPHA:85198
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Pulmonary embolism, Depressed nasal ridge, Clinodactyly of the...	ORPHA:96264
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi...	OMIM:184252
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Microg...	ORPHA:235
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p...	OMIM:608612
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Pulmonary embolism, Depressed nasal ridge, Clinodactyly of the...	ORPHA:96263
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Macroorchidism, Malar flatt...	ORPHA:139474
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Shoulder girdle muscle weakness, Respiratory failure, Spinal rigidity	OMIM:604801
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ...	ORPHA:250984
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture, Thoracic kyphosis	OMIM:270200
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Depressed na...	OMIM:151210
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathi...	OMIM:616229
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphos...	OMIM:180870
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom...	OMIM:226980
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb...	OMIM:607095
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe...	ORPHA:94089
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Recurrent...	ORPHA:2314
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge,...	OMIM:616482
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Depressed nasal bridge, Single transverse palmar crease, M...	OMIM:614541
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog...	OMIM:231070
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato...	ORPHA:2771
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Macroglossia, Wormian bones, ...	OMIM:614450
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion c...	OMIM:601559
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi...	OMIM:175700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5...	ORPHA:2710
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,...	ORPHA:391408
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Eosinophilia,...	OMIM:617425
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Depressed nasal bridge, Osteomala...	ORPHA:1901
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo...	ORPHA:811
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Anteverted nares, Depresse...	ORPHA:254528
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Tapered fin...	OMIM:618825
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal de...	OMIM:610127
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,...	OMIM:218400
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Qazi-Markouizos Syndrome	Prominent nasal bridge, Tapered finger, High, narrow palate, Cryptorchidism, Hypoplasia of teeth,...	ORPHA:3010
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con...	OMIM:248370
Geroderma Osteodysplastica	Beaking of vertebral bodies, Mandibular prognathia, Recurrent fractures, Osteoporosis, Hip disloc...	ORPHA:2078
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow ...	ORPHA:3015
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo...	ORPHA:69087
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Large posterior fontanelle, Short neck, Micrognathia, Preaxial polydactyly, Narrow greater sciati...	OMIM:617925
Hao-Fountain Syndrome	Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial...	OMIM:616863
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Thin ribs, Short f...	ORPHA:93324
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati...	OMIM:183900
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Scarring al...	OMIM:618727
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Spontaneous neonatal pneumothorax, Delayed closure of ...	OMIM:225410
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath...	ORPHA:2980
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Wid...	ORPHA:1194
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Smooth philtrum, Sandal gap, Carious teeth, Small hand, 2-3 toe syndac...	OMIM:619229
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Promin...	ORPHA:2636
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teet...	OMIM:253220
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P...	ORPHA:46627
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe...	OMIM:618506
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte...	OMIM:612921
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Schwartz-Jampel Syndrome	Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, P...	ORPHA:800
Blomstrand Lethal Chondrodysplasia	Micrognathia, Distal shortening of limbs, Short metacarpal, Increased bone mineral density, Antev...	ORPHA:50945
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi...	OMIM:612813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ...	OMIM:242900
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Cryptorchidism...	OMIM:614613
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ...	ORPHA:1517
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi...	OMIM:114300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Mic...	ORPHA:85199
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Short nose, ...	OMIM:614524
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Inguinal hernia, Depressed nasal bridge, Sandal gap, Anteve...	OMIM:614607
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Fle...	OMIM:309900
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b...	ORPHA:2025
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Osteoporosis, Concave n...	ORPHA:73272
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Sh...	OMIM:619638
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H...	ORPHA:239
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathi...	OMIM:619135
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, Sp...	OMIM:235510
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ...	OMIM:616505
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax...	OMIM:617102
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Respiratory distress, Depressed nasal bridge, Postaxial polydactyly, Mic...	OMIM:617895
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamar...	OMIM:269860
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress...	OMIM:108300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Widely spaced teeth, High pa...	OMIM:266920
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Short neck, Micrognathia, High palate, Low...	OMIM:157900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T...	OMIM:300863
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Overlapping toe, Anteverted nares, Depressed nasal bridge, Genu re...	OMIM:617301
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,...	OMIM:129400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Ohdo Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal ...	OMIM:249620
Cohen Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Single transverse palm...	OMIM:216550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f...	OMIM:601957
Ollier Disease	Micromelia, Joint stiffness, Osteolysis, Platyspondyly, Abnormal metaphysis morphology, Anemia	ORPHA:296
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ...	OMIM:615330
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Palmoplantar ker...	ORPHA:79410
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thick nasal alae, Anteverted nares, Depressed n...	ORPHA:2067
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Anemia	ORPHA:375
Arthrogryposis Multiplex Congenita 6	Death in infancy, Large fontanelles, Respiratory failure, Death in childhood, Neonatal death, Art...	OMIM:619334
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth...	OMIM:601216
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Sag...	OMIM:145420
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ...	ORPHA:2063
Schinzel-Giedion Syndrome	Respiratory distress, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Choana...	ORPHA:798
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Foot joint contracture, Scarr...	ORPHA:90321
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Depressed nasal bridge, Abnormal dental ena...	ORPHA:2323
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H...	OMIM:619148
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Congenital diaphragmatic hernia, Osteopathia striata,...	OMIM:305600
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope...	OMIM:259700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Multiple joint dislocation...	OMIM:245600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint contracture, Joint laxity, Respiratory insufficiency, Increased susceptibility ...	OMIM:615349
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,...	ORPHA:79409
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Limited elbow movem...	OMIM:617809
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypop...	ORPHA:2409
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Depressed nasal bridge, Single tran...	OMIM:619777
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Prominent nose, Kyphosis, ...	ORPHA:1005
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos...	ORPHA:2655
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Intermediate Nemaline Myopathy	Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ...	ORPHA:171433
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Period...	ORPHA:955
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, ...	OMIM:212750
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p...	ORPHA:354
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ...	OMIM:617866
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Hamartoma of tong...	OMIM:311200
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, ...	ORPHA:2092
Gapo Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanell...	OMIM:230740
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh...	OMIM:619356
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid...	OMIM:275210
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2962
Sjögren-Larsson Syndrome	Kyphosis, Abnormal dental enamel morphology, Scoliosis, Joint stiffness	ORPHA:816
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Hepatomega...	ORPHA:667
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Anteverted nares, Dental crowding, Persistence of primary teeth, Micrognathia, Thic...	OMIM:618342
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Hepatomegaly, Depres...	OMIM:620076
Cardiospondylocarpofacial Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe...	ORPHA:3238
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Narrow mouth, Protruding tongue, Gingiva...	OMIM:230600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Coxa vara, Clinodactyly of the 5th finger, Syndac...	OMIM:614701
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ...	OMIM:187600
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ...	ORPHA:181
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres...	ORPHA:87
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Osteomalacia, Abnormal facial skeleton morpholog...	ORPHA:562
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver	ORPHA:132
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Hypopla...	OMIM:613177
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala...	OMIM:300373
Autosomal Dominant Brachyolmia	Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Knee flexion contracture, High palate, Macrovesicular hepatic steatosis, Long toe, Death i...	OMIM:608836
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Short neck, Tapered finger, Narrow mouth, Wide nasal bridge, Narrow palate, Hypopla...	OMIM:620250
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Koolen-De Vries Syndrome	High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi...	ORPHA:96169
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Bro...	OMIM:617241
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:609220
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Micromelia, Kyphosis, Limitation of joint mobility, Respir...	ORPHA:93274
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor...	OMIM:276950
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Delayed cranial suture closure, In...	ORPHA:2457
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet...	OMIM:102500
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Triceps weakness, Weakness of long fi...	ORPHA:98913
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Depressed nasal bridge, Abnormal prim...	ORPHA:1830
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Bilateral cry...	OMIM:602535
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Dental crowding, Congenital diaphragmati...	ORPHA:96170
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn...	ORPHA:2707
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Short neck, Micrognathia, Long fingers, High, narrow...	ORPHA:96092
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Recon Progeroid Syndrome	Joint laxity, Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Pr...	OMIM:620370
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy...	ORPHA:808
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n...	OMIM:236500
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh...	OMIM:212720
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Tented upper lip ver...	OMIM:619383
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Femoral hernia, ...	ORPHA:3342
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ...	ORPHA:884
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Depressed nasal bridge, Pneumonia, Short neck, Thin lower lip vermi...	OMIM:613328
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Micrognathi...	ORPHA:85201
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Thin ribs, Short foot, Sle...	OMIM:244460
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Short neck, Cryptorchidism, Platyspo...	OMIM:618958
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor...	ORPHA:77258
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Recurrent sinusit...	OMIM:618204
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure	ORPHA:3196
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Kne...	OMIM:620249
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Scapular winging, Depressed nasa...	ORPHA:26791
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Large fontanelles,...	ORPHA:171430
Coffin-Siris Syndrome 6	Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narrow palate, Deep ...	OMIM:617808
Kyphomelic Dysplasia	Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Pterygium, Short metacarpal, Radial bowi...	OMIM:211350
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption...	ORPHA:819
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Hyperparathyroidism, Femoral bowing, Anteverted nares, Depresse...	OMIM:618188
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol...	OMIM:619131
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Reduced bon...	ORPHA:2108
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ...	OMIM:258480
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure	ORPHA:168486
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Microdontia, Accessory spleen, D...	OMIM:620005
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelec...	ORPHA:896
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide a...	OMIM:601853
Sotos Syndrome	Joint laxity, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, H...	OMIM:117550
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Trisomy 9P	Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Abnormal ...	ORPHA:236
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Death in infancy, Oral mucosal blisters, Atrophic scars, Arthrogryposis multiplex congenita, Enam...	OMIM:226730
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Rhizomelia, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Finger syndactyly, Depressed nasal bridge, Abnor...	ORPHA:2136
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Palma...	ORPHA:77301
Alg9-Cdg	Short neck, Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone oss...	ORPHA:79328
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, High, nar...	OMIM:122470
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa...	OMIM:312170
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent lower respiratory tract infections,...	OMIM:620321
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Asthma, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia	OMIM:616029
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenoco...	OMIM:609981
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phoco...	ORPHA:3404
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Abnormal hip bone morp...	ORPHA:3236
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Emphysema, Synostosis ...	ORPHA:289
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Bifi...	ORPHA:2671
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Abnorma...	OMIM:146510
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bifid nasal tip, Bilateral cleft lip and palate, High palate, Macroorch...	OMIM:618874
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Bronchitis, Pneumonia, Ab...	ORPHA:449280
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Cortical thickening of long bone d...	ORPHA:309282
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Knee contractu...	OMIM:620278
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly, Micromelia	ORPHA:93283
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental morphology, ...	ORPHA:3253
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu...	OMIM:224690
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Short neck, Micrognathia, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion con...	OMIM:300868
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse...	ORPHA:2834
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo...	OMIM:268400
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Increased ...	ORPHA:98905
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Small hand, Wide nasal bridge, Wide m...	OMIM:614684
Short Syndrome	Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipo...	OMIM:269880
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel...	OMIM:300219
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont...	ORPHA:2020
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, Abnormality of b...	ORPHA:861
Temtamy Syndrome	Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin...	OMIM:218340
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty...	ORPHA:794
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Narrow nasal ridge, Cryptorchi...	OMIM:219150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Overlapping toe, Broad hallux, Convex nasal ridge, Microcytic anemia, ...	ORPHA:293967
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Respiratory failure, Decreased liver function, Scoliosis	ORPHA:79327
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No...	ORPHA:454836
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli...	ORPHA:158687
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide...	OMIM:224410
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Recurrent upper res...	ORPHA:508542
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, High palate, Cough, Emphysema, Hepatic steat...	OMIM:613658
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High...	ORPHA:2751
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Inguinal hernia, Narrow nasal r...	OMIM:612940
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, He...	ORPHA:79500
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea...	OMIM:250220
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Death in infancy, Depressed nasal bridge, Epiphyseal stippling, Respiratory failure	OMIM:614862
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Cryptorchidism, Rickets, Hip dis...	OMIM:309000
Emanuel Syndrome	Broad jaw, Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Dental cr...	OMIM:609029
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop...	ORPHA:59303
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Micrognathia, Dental malocclusion, Wid...	ORPHA:73223
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Recurrent respiratory infection...	OMIM:610253
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng...	ORPHA:2254
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Diastema, Open bite, Wide nasal bridge,...	OMIM:619698
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Hepato...	OMIM:135500
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T...	ORPHA:36238
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dyspnea, ...	ORPHA:99931
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra...	ORPHA:496641
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95716
Sweeney-Cox Syndrome	Micrognathia, Asplenia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly...	OMIM:617746
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, D...	OMIM:616901
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr...	OMIM:606071
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Dental crowding, Short neck,...	ORPHA:2789
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Anteverted nares, Thin up...	OMIM:247200
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse...	ORPHA:476126
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Hepatosplenomegaly,...	ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Splenomegaly, Mi...	OMIM:301072
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Inguinal hernia, Prominent nasal...	ORPHA:357058
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Decreased response to growth...	OMIM:615866
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Coxa vara, H...	OMIM:313400
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Depressed nasal ridge, Palmoplantar keratoderma, Hypodontia, Shagreen ...	ORPHA:1816
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Short neck, Microg...	OMIM:305450
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge	OMIM:614564
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Neonatal deat...	OMIM:612289
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossification, Cra...	OMIM:618476
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal...	OMIM:211600
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Hernia, Advanced ...	ORPHA:261494
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su...	ORPHA:93325
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, R...	OMIM:615512
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial ...	OMIM:251230
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Respiratory failure, Jaundice	ORPHA:890
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp...	OMIM:620193
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Increased connective tissue, Hyperlo...	ORPHA:258
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon...	OMIM:310200
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:612843
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, Palmoplantar keratoderma, Smoo...	ORPHA:79396
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Abnormality of the dentition, Short neck, Wide mouth, Enamel hypoplasia, ...	OMIM:615802
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:619386
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Wide nasal bridge, Clinodact...	OMIM:619149
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Costello Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Short neck, Abnormality of the dentiti...	ORPHA:3071
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor...	OMIM:604320
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Anteverted nares, Apnea, Recurrent pn...	OMIM:616260
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Lateral Meningocele Syndrome	Dental crowding, Short neck, Micrognathia, High palate, Vertebral fusion, Cryptorchidism, Scleros...	OMIM:130720
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Prominent nose, Delayed ep...	OMIM:210710
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p...	OMIM:312863
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutaneous finger synd...	OMIM:211380
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplastic sacrum, Rhizomeli...	OMIM:614813
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Omphalocele, Sclerotic cranial sutures, Abnormal hand morphology, Osteol...	ORPHA:371428
Silver-Russell Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Short distal pha...	OMIM:180860
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Apnea, Short neck, Micrognathia, Microves...	OMIM:300855
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Downturned corners of mouth, Pulmonary artery atresia, Short phalanx of...	OMIM:616894
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Asthma, Cranial hyperostosis, Imbalanced hemoglobin synth...	ORPHA:330015
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font...	OMIM:617802
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thin upper lip vermilion, Delayed cranial suture closure, Severe generalized ost...	OMIM:210730
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Death in infancy	OMIM:272300
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Anteverted nares, Craniosynostosis, Depressed...	OMIM:123790
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Premature loss of teeth, Absence of subcutaneous fat, Corneal scar...	OMIM:610965
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Depressed nasal bridge, Joint h...	OMIM:300990
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Short philtru...	ORPHA:2896
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys...	ORPHA:85194
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Abnormal ...	ORPHA:818
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr...	OMIM:105650
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Hip dislocation, Dental ...	OMIM:300867
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	ORPHA:280365
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Short philtrum, Hypop...	ORPHA:567
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, General...	ORPHA:363400
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vert...	ORPHA:744
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i...	OMIM:619769
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypov...	OMIM:620326
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly	OMIM:132450
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Decreased response to growth hormone stimulation test, Abn...	ORPHA:289494
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Death in...	OMIM:133540
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Shoul...	OMIM:603689
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Advanced erupt...	ORPHA:404448
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Hepatomegaly, Anisocytosis, ...	OMIM:618278
Tetrasomy 9P	Joint dislocation, Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners...	ORPHA:3310
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplastic iliac wing, Short ...	OMIM:208500
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Asplenia, Micrognathia, Lobulated tongue, Accessory spleen, ...	OMIM:249000
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Sho...	OMIM:614188
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Pulmonary embolism, Joint stiffness, Osteoarthritis, Pla...	ORPHA:1345
Costello Syndrome	Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ...	OMIM:218040
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Recurr...	ORPHA:2745
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Tapered finger, Abnormality of the dentition, Thick lower lip vermi...	ORPHA:261652
Hennekam-Beemer Syndrome	Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Thick lower lip vermilion...	ORPHA:2135
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,...	OMIM:610442
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Convex nasal ridge, M...	OMIM:600383
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve...	ORPHA:99646
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed na...	ORPHA:1465
Snakebite Envenomation	Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding, Hypopituitarism, Thromb...	ORPHA:449285
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Depressed nasal bridge, Micrognathia, Sp...	OMIM:261515
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Hepatic steatosis, Decreased liver function	ORPHA:70472
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Depressed nasal bridge, Decreased response to growth h...	OMIM:618223
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Hepatomegaly, Respiratory failure, Stillbirth, Tongue fasciculations, Decreased...	OMIM:614922
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Immunodeficiency 9	Death in infancy, Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Rec...	OMIM:612782
Wiedemann-Rautenstrauch Syndrome	Short neck, Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy...	OMIM:264090
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit...	ORPHA:2315
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T...	OMIM:612651
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc...	ORPHA:2785
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory...	OMIM:220110
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hepatomegaly, Hyperlordosis, Respiratory tract infection, Atelec...	ORPHA:365
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Abnormal dental...	ORPHA:191
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, ...	ORPHA:500150
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nose, Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Short neck, Joint...	ORPHA:2995
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp...	ORPHA:1824
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Pallister-Hall Syndrome	Hemivertebrae, Depressed nasal ridge, Gonadotropin deficiency, Abnormal lung lobation, Bifid uvul...	ORPHA:672
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Cholelithiasis, Enamel hypoplasia	OMIM:240300
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh...	OMIM:601358
Ogden Syndrome	Microretrognathia, Inguinal hernia, Everted upper lip vermilion, Broad hallux, Underdeveloped nas...	ORPHA:276432
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Hepatomegaly, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25...	OMIM:619802
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypocalcification of de...	ORPHA:169090
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor...	OMIM:620186
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Clubbing, Bronchiectasis, ...	OMIM:612387
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Depressed nasa...	ORPHA:647
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi...	ORPHA:254361
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Death in childhood, Wormian ...	OMIM:309400
Aspartylglucosaminuria	Mandibular prognathia, Anterior beaking of lumbar vertebrae, Abnormal vertebral morphology, Hepat...	ORPHA:93
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Supernume...	ORPHA:1812
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis,...	ORPHA:2886
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atel...	OMIM:620233
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Hepatomegaly, Bone-marrow foam cells, Splenomega...	OMIM:607625
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Nonproducti...	ORPHA:2902
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Anemia, Death in childhood	OMIM:615838
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Fucosidosis	Cervical platyspondyly, Recurrent respiratory infections, Wide nose, Lumbar hyperlordosis, Depres...	OMIM:230000
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, He...	ORPHA:46059
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orofacial cleft, Cleft palate...	OMIM:601701
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp...	OMIM:135900
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent respiratory infections, Abnormal natural...	OMIM:615617
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis	ORPHA:251004
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Limitation of joint mobility, Flexion contractur...	ORPHA:171719
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia	OMIM:601345
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Lipoatrophy, Splenomeg...	ORPHA:2348
Cranioectodermal Dysplasia 2	Cholangitis, Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Hepatomegaly, Elevated hepatic transaminase, Kyphoscoliosis, Acantho...	ORPHA:14
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Boutonneuse Fever	Elevated hepatic transaminase, Abnormal skin morphology of the palm, Cervical lymphadenopathy, Ly...	ORPHA:83313
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Prominent metopic r...	ORPHA:1272
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Respiratory failure, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val...	OMIM:304150
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Depressed nasal bridge, Congenital diaphragmatic hernia, Sho...	OMIM:616364
Listeriosis	Back pain, Brain abscess, Respiratory distress, Stiff neck, Osteomyelitis, Liver abscess, Abscess...	ORPHA:533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sacral dimple, Inguinal hernia, Aplastic anemia, Prominent...	OMIM:223370
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Carious teeth, Splenomegaly, Kyphosis, Flexion contr...	ORPHA:90324
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Scoliosis, Right unilambdoid synostosis, Spina ...	OMIM:616602
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Multiple joint contra...	ORPHA:1662
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Large fontanelles, Cleft palate, Short ribs, Lambdoidal cran...	OMIM:603116
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me...	OMIM:608328
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Hip dislocation, Talipes equinovarus, Hernia, Wormian b...	OMIM:616603
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Elevated circulating aspartate aminotransfera...	ORPHA:2088
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ...	OMIM:136140
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Bronchitis, Microg...	ORPHA:125
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects...	OMIM:259100
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n...	OMIM:256000
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Anteverted nares, Broad femoral neck, Increased...	OMIM:619727
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Respiratory failure	ORPHA:1861
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ...	OMIM:610978
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Decreased proportion of transitional B cells, Decreased proportion of C...	ORPHA:331235
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Prominent metopic ridge, Depressed nasal...	ORPHA:576
Loeys-Dietz Syndrome 4	Joint laxity, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, High, narrow palate, Emphysem...	OMIM:614816
Tibial Muscular Dystrophy	Respiratory failure, Distal upper limb muscle weakness, Weakness of long finger extensor muscles	ORPHA:609
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Trisomy 10P	Thumb contracture, Wide cranial sutures, Absent gallbladder, Anteverted nares, Depressed nasal br...	ORPHA:171929
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:352665
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Sandal gap, Anteverted nares, Depressed nasa...	OMIM:616835
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck...	ORPHA:264450
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Lymphopenia	OMIM:616395
Bronchogenic Cyst	Back pain, Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology,...	ORPHA:2357
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Ankle clonus, Proximal muscle weakness in upper limbs, Respiratory failure	OMIM:613954
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Death in adolescence, Death in childhood	OMIM:560000
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Silver-Russell Syndrome	Sandal gap, Dental crowding, Micrognathia, Cryptorchidism, Upper limb asymmetry, Downturned corne...	ORPHA:813
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Vertebral segment...	OMIM:312870
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, B...	OMIM:618644
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea, Micrognathia, Short nose, Delayed cranial suture closure	ORPHA:1129
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Kyphoscoliosis, Conical tooth, Scarring, Supernumerary n...	OMIM:308300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter...	OMIM:613845
Wilson Disease	Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, H...	OMIM:277900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteolysis, Larg...	ORPHA:90153
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Delayed closure of ...	ORPHA:357074
Curry-Jones Syndrome	Wormian bones, Duplication of thumb phalanx, Lip pit, Unicoronal synostosis, Preaxial hand polyda...	OMIM:601707
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Respiratory failure, Bone marrow hypocellularity, In...	ORPHA:445038
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Large h...	ORPHA:3220
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile...	ORPHA:731
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Decreased response to growth hormone stimulation test, Elevated circulating luteinizin...	OMIM:300845
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho...	ORPHA:3194
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Abnormality of the dentiti...	OMIM:605822
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Short neck, Cutaneous syndactyly, Respiratory failure, Hypo...	OMIM:617666
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating luteinizing hormon...	OMIM:609441
Kilquist Syndrome	Mandibular prognathia, Choanal atresia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide...	OMIM:619080
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Equinus calcaneus, Respiratory insufficiency, Cholestasis, Respiratory failur...	ORPHA:746
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J...	ORPHA:353281
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ...	OMIM:263520
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Thin upper lip vermilion, Metatarsus adductus, Cubitus val...	OMIM:611962
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Respiratory distress, N...	ORPHA:209905
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Morquio Syndrome C	Platyspondyly	OMIM:252300
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Proximal placement of thumb...	OMIM:261540
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar kerat...	ORPHA:2309
Charge Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof...	ORPHA:138
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Ectopic posterior pituitary, Depressed nasal bridge, Decreased respon...	ORPHA:226307
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio...	ORPHA:353277
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Flexion contractur...	OMIM:263650
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Short femoral nec...	OMIM:617159
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of the dentition, Respiratory failure, Abnormality of ...	ORPHA:88618
Menkes Disease	Bowing of the long bones, Osteomyelitis, Inguinal hernia, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Depressed nasal bridge, Cartilaginous ossificati...	OMIM:245150
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo...	ORPHA:70578
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cryptorchidism, Neonatal asphyxia, Cleft palate, Hypoplasia of t...	ORPHA:2728
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Respirato...	ORPHA:308552
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Single naris, Respiratory f...	OMIM:615636
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ...	ORPHA:3455
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Enlarged ovaries, Antevert...	ORPHA:769
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology	ORPHA:2238
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Joint laxity, Microretrognathia, Arachn...	OMIM:601776
Usher Syndrome Type 2	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:231178
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod...	ORPHA:2044
Cornelia De Lange Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Micromeli...	ORPHA:199
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac...	ORPHA:1652
Leigh Syndrome	Multiple joint contractures, Respiratory failure, Neutropenia, Hepatic failure, Abnormal pattern ...	ORPHA:506
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Familial Multiple Lipomatosis	Bowing of the long bones, Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Hepatomegaly	OMIM:610678
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Emphysema...	ORPHA:558
Fanconi Renotubular Syndrome 5	Genu valgum, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenoc...	OMIM:618913
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa...	OMIM:606170
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasi...	OMIM:244400
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Thick...	OMIM:613804
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Cough, Emphysema, Abnormal salivary gland morphology, Hepatomegaly, ...	OMIM:181000
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Parietal Foramina 1	Encephalocele, Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Nocardiosis	Respiratory distress, Brain abscess, Osteomyelitis, Liver abscess, Pneumonia, Productive cough, L...	ORPHA:31204
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Inguinal hernia, Wide anterior fontanel, Pneu...	ORPHA:90349
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bri...	ORPHA:1519
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopen...	OMIM:620365
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Hepatomegaly, Macroorchidism, Anteverted nares, D...	OMIM:208400
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Tapered...	OMIM:601088
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Bronchitis, Follicular hyperp...	OMIM:619381
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate,...	OMIM:188400
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmo...	ORPHA:542323
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Abnormal dental enamel morphology, Cheilitis, Hepatitis, Abnorm...	ORPHA:1334
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Abnormal rib morphology, R...	ORPHA:93317
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cryptorchidism, Gonad...	OMIM:615465
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Palmar hyperline...	OMIM:617337
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure, Limb joint contracture	OMIM:620327
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypopituitarism, Depressed nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Reduced...	OMIM:613038
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,...	ORPHA:2211
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Stiff neck, Crackles, Atelectasis, Leukocyto...	ORPHA:319213
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Sotos Syndrome	No permanent dentition, Flexion contracture, Abnormal vertebral morphology, Joint laxity, Cryptor...	ORPHA:821
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Knobloch Syndrome 2	Encephalocele, Recurrent respiratory infections, Micrognathia, Abnormal pulmonary interstitial mo...	OMIM:618458
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Elevated hepatic transaminase, Epistaxis, Pneumonia, Dyspnea, Le...	ORPHA:340
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Narrow mouth, Complete dupli...	ORPHA:59315
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Epistaxis, Cough, Mediastinal lymphadenopathy, Atelectasis, ...	ORPHA:73263
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Osteomyelitis, Liver abscess, Cough, Splenomegaly, Lymphadenitis, Atelectasis, Recu...	OMIM:306400
Odontomicronychial Dysplasia	Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit...	ORPHA:1811
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Respiratory failure, Death in childhood	OMIM:619847
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters, Pterygium	ORPHA:79403
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Osteoarthritis, Abnormality of the gingiva, Gingivitis, Microdontia, Ab...	ORPHA:285
Cystinosis	Rickets, Portal hypertension	ORPHA:213
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Coffin-Siris Syndrome 12	Micrognathia, High palate, Joint laxity, Anteverted nares, Depressed nasal bridge, Short thumb, C...	OMIM:619325
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hepatomegaly, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failu...	OMIM:252010
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho...	OMIM:609015
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Wide nose, Abnormal dental enamel morphology, Congenital dia...	ORPHA:2556
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Cellulitis, Lymphadeniti...	ORPHA:51636
1P36 Deletion Syndrome	Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, Clinodactyly of the 5...	ORPHA:1606
Infantile Krabbe Disease	Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:206436
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ...	ORPHA:2273
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers,...	ORPHA:284979
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane...	ORPHA:261537
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro...	OMIM:615948
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer...	OMIM:618329
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Fused teeth, High palate, Shor...	OMIM:300896
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth, Breast ...	ORPHA:1231
Marfan Syndrome	Genu recurvatum, Dental crowding, Equinus calcaneus, Micrognathia, Incisional hernia, Flexion con...	OMIM:154700
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis of permanent ...	ORPHA:1401
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Hypophosphatemic rickets, Rachitic rosary	OMIM:612089
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Peripheral pulmonary artery stenosis, Genu recurvatum,...	ORPHA:90348
Usher Syndrome	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:886
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Leukopenia, C...	ORPHA:797
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Hermansky-Pudlak Syndrome	Epistaxis, Abnormal dental enamel morphology, Dyspnea, Pulmonary fibrosis, Neutropenia	ORPHA:79430
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane...	ORPHA:261552
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Re...	OMIM:617248
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Juvenile rh...	OMIM:266270
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorc...	OMIM:618653
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contracture, Calcane...	ORPHA:2152
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Oral leu...	OMIM:167210
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Hepatomegaly, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in...	OMIM:610505
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Rickets	OMIM:616026
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increa...	ORPHA:18
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Primary hyperparathyroidism, Multiple lipomas, Pancreatitis, Chondrocalcinosis	OMIM:600740
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Dental crowding, Delayed eruption of primary teeth, Widely spaced teeth, Neutropenia, Hype...	OMIM:617799
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:611926
Cystinosis, Nephropathic	Hepatomegaly, Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets,...	OMIM:219800
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph...	OMIM:219100
Fabry Disease	Dyspnea, Thick lower lip vermilion, Chronic pulmonary obstruction, Abnormal femur morphology, Res...	ORPHA:324
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Respiratory distress, Multiple joint contractures, Prominent n...	ORPHA:79318
Viss Syndrome	Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Emphysema,...	OMIM:619472
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Hepatoblastoma, Abnormality of the dentition, Supe...	ORPHA:733
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Tented upper l...	ORPHA:273
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato...	ORPHA:646
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger, Anemia	OMIM:208060
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate...	ORPHA:2250
Johanson-Blizzard Syndrome	Single transverse palmar crease, Downturned corners of mouth, Hepatic fibrosis, Death in childhoo...	OMIM:243800
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tachypnea, Anomalous pulmonary ...	ORPHA:555874
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Cryptorchidism, Anosmia,...	OMIM:603457
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridg...	OMIM:614437
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Respiratory failure	ORPHA:679
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Pu...	ORPHA:805
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:615607
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Hepatoblastoma,...	OMIM:175100
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose...	OMIM:229400
Gardner Syndrome	Neoplasm of the pancreas, Hepatoblastoma, Abnormality of the dentition, Supernumerary tooth, Odon...	ORPHA:79665
Relapsing Polychondritis	Atelectasis, Dyspnea, Limitation of joint mobility, Hepatitis, Arthritis, Recurrent aphthous stom...	ORPHA:728
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Osteomalacia, Stippled calcification of the should...	ORPHA:51608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch, Adenoma sebaceum, Pulmonary lymphangio...	OMIM:191100
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Lymphadenopathy, Restrictiv...	ORPHA:538
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Gaisböck Syndrome	Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Increased hemat...	ORPHA:90041
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Reduced bone mineral density	ORPHA:47159
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition	ORPHA:2036
Familial Hypocalciuric Hypercalcemia	Lipoma, Pancreatitis, Osteomalacia, Chondrocalcinosis	ORPHA:405
Medulloblastoma	Back pain, Elevated hepatic transaminase, Delayed cranial suture closure, Neoplasm of the lung	ORPHA:616
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Mowat-Wilson Syndrome	Delayed eruption of teeth, Pulmonary artery sling, Supernumerary nipple, Cryptorchidism, Pulmonar...	OMIM:235730
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Pulmonary fibrosis, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sp3.

No publications found that use IMPC mice or data for Sp3.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sp3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sp3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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