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Gene: Schip1 MGI:1353557

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

schwannomin interacting protein 1

Synonyms:

SCHIP-1

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 Schip1 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 Schip1 (0 diseases)
Human diseases predicted to be associated with Schip1 (755 diseases)

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

The table below shows human diseases predicted to be associated to Schip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, High palate, Clinodactyly of the 5th ...	ORPHA:217340
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Cleft palate, Micrognathia	ORPHA:2015
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphysea...	OMIM:614524
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di...	ORPHA:1513
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognath...	ORPHA:1832
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Pectus excavatum, High palate, Short nose, Convex nasal ridge	ORPHA:1695
Mosaic Trisomy 14	Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Abnormal rib mor...	ORPHA:1703
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha...	ORPHA:166272
Peho-Like Syndrome	Tapered finger, Retrognathia, Lissencephaly, Short nose, Pachygyria, Polymicrogyria	OMIM:617507
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Craniof...	OMIM:122860
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Pectus excavatum, Pectu...	OMIM:300676
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, High palate, Toe clinodactyly, Short nose	ORPHA:261120
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Abnormal epiphysis morphology, Abnormal ...	ORPHA:90653
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Frontonasal Dysplasia 1	Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas...	OMIM:136760
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morphology, Cleft pal...	ORPHA:2145
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ...	OMIM:156510
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Pectu...	ORPHA:261295
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:619736
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Wide anterior fontanel, Abnor...	ORPHA:163649
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Short long bone, Short nose, Thoracic hypoplasia, Brachyd...	ORPHA:221054
Distal Duplication 18Q	Anteverted nares, Choanal atresia, Prominent nasal bridge, Micrognathia, Carious teeth, Arachnoda...	ORPHA:1716
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Atelosteogenesis, Type Iii	Radial bowing, Depressed nasal bridge, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Tombs...	OMIM:108721
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Depressed nasal ridge, Coxa va...	ORPHA:2831
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Camptodactyly	OMIM:246560
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Micrognathia, Lateral clavicle hook...	ORPHA:1801
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Achondrogenesis Type 1B	Anteverted nares, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, ...	ORPHA:93298
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip	ORPHA:2776
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed ...	ORPHA:1327
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Micrognathia, Short thorax, Short foot, Narrow chest, S...	ORPHA:93299
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Postaxial hand polydactyly, Hip dislocation...	OMIM:241800
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib ca...	OMIM:608154
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, High ...	ORPHA:85279
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Coxa vara, Cleft palate, Abnormal...	ORPHA:1988
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev...	ORPHA:950
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Abnormal rib morphology, Clavicular sclerosis, ...	ORPHA:2790
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Multiple pterygia, Micrognathia	OMIM:601809
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, High palate, Clinodactyly of the 5th finger, Short nose	ORPHA:217385
Rhiny	Short nose, Anteverted nares	OMIM:180360
Keipert Syndrome	Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop...	ORPHA:2662
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t...	OMIM:618506
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal...	ORPHA:969
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c...	OMIM:600920
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Lujan-Fryns Syndrome	Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ...	ORPHA:776
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Recon Progeroid Syndrome	Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under...	OMIM:620370
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho...	ORPHA:2835
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate, Micrognathia	ORPHA:2598
Van Maldergem Syndrome 1	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Anter...	OMIM:601390
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib m...	ORPHA:2097
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, H...	OMIM:265050
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abn...	ORPHA:83
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Genu rec...	ORPHA:915
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Hip dysplasia, High palate, Clinodactyly of the 5...	OMIM:617991
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Short nose, Meckel diverticulum	ORPHA:163961
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares	ORPHA:46
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar dislocation, Sho...	ORPHA:93328
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Narrow chest, Flaring of...	OMIM:200600
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o...	ORPHA:1307
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Micrognathia, Bulbous nose, Clinodactyly, Wide nasal bridge, Glossoptosis, High...	OMIM:613604
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Micrognathia...	ORPHA:93267
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto...	ORPHA:171839
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia	ORPHA:1514
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Abnormality of neuronal migration,...	ORPHA:1895
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Pachygyria, Subcortical band heterotopia	OMIM:618737
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr...	OMIM:156530
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars...	OMIM:614613
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis involving tar...	OMIM:166300
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of th...	OMIM:271665
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Wide nasal ...	OMIM:618577
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Metaphyseal cupping, ...	OMIM:613320
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones...	ORPHA:1798
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Malabsorption, Hiatus hernia...	ORPHA:50
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Elb...	ORPHA:3258
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal pha...	OMIM:300863
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Sh...	OMIM:108720
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Sho...	OMIM:601224
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Overhanging nasal tip	OMIM:619142
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi...	ORPHA:93329
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxil...	ORPHA:178303
Clark-Baraitser Syndrome	Anteverted nares, Depressed nasal bridge, Sandal gap, Clinodactyly, High palate, Short nose, Low ...	OMIM:617752
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Genu valgum	ORPHA:2972
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Cleft p...	ORPHA:1797
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Camptodactyly of finger, Micrognathia	ORPHA:1495
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening, Coronal cr...	OMIM:241310
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares, Lissencephaly	ORPHA:531
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Postaxial hand polydactyly, High palate, Narrow chest, Short nose	ORPHA:1702
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Anteverted nares, Fractured radius, Micrognathia, Beaded rib...	OMIM:616897
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot ...	OMIM:206920
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Long thor...	ORPHA:2635
Achondrogenesis	Anteverted nares, Micrognathia, Short thorax, Narrow chest, Short nose	ORPHA:932
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Simplified gyral pattern, Clef...	OMIM:614261
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ...	ORPHA:1458
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypo...	ORPHA:2673
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Duodena...	ORPHA:2547
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Depressed nasal bridge...	ORPHA:628
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Short nose	OMIM:617183
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Block vertebrae, Proximal placement of thumb, Hia...	OMIM:304050
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, H...	OMIM:218000
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Wide nasal bridge, Short nose, Retrognathia	ORPHA:2849
Van Maldergem Syndrome 2	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneo...	OMIM:615546
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl...	OMIM:257850
Verheij Syndrome	Branchial cyst, Vertebral fusion, Anteverted nares, Broad nasal tip, Clinodactyly, Hip dislocatio...	OMIM:615583
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Pectus excavatum, Abnormality of the elbow, Short nose, Brachyda...	ORPHA:2701
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Esophageal atresia, Trac...	OMIM:619859
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no...	OMIM:170390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Pectus excavatum, Short toe, Anterior open-bite m...	OMIM:617877
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Prominent nose, Micrognathia, Pectus carinatum, High palate, Broad thumb, Clinodac...	OMIM:620194
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Wide nasal bridg...	OMIM:620157
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Renpenning Syndrome	Mandibular prognathia, Prominent nose, Abnormal thumb morphology, High, narrow palate, Pectus exc...	ORPHA:3242
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:216550
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Wide nasal bridge, Metopic synostosis, Short nose, Meckel ...	OMIM:190440
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Cleft palate, Malar flattenin...	ORPHA:79113
Chromosome 6Q11-Q14 Deletion Syndrome	Prominent nasal bridge, Broad nasal tip, Micrognathia, High palate, Short nose	OMIM:613544
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ...	ORPHA:474
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Con...	ORPHA:93262
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr...	ORPHA:763
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ...	ORPHA:2409
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose	ORPHA:93945
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Micrognathia, M...	ORPHA:3082
Pierpont Syndrome	Wide nose, Broad nasal tip, Short toe, Short foot, Short finger, Short palm, Prominent fingertip ...	OMIM:602342
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of...	ORPHA:1234
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Broad hallux, Micrognathia, Broad nasal tip, Sandal gap, Cli...	OMIM:618529
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge...	ORPHA:50945
Kagami-Ogata Syndrome	Long clavicles, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla...	OMIM:608149
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Anteverted nares, Depressed nas...	OMIM:612921
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Orofaciodigital Syndrome Iii	Pectus excavatum, Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, ...	OMIM:258850
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Cleft palate, Bell-sha...	OMIM:608022
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Hypoplasia of the maxilla,...	OMIM:305400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Malar prominence, Micrognathia, Pectus excavatum, Abnormal rib morp...	ORPHA:2522
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Vertebral fusion, 2-3 toe syndactyly, ...	ORPHA:313892
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hyp...	OMIM:215140
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Pectus carinatum, Slender nose, Short nose, Micrognathia	OMIM:615419
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri...	OMIM:309520
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Cubitus valgus, ...	OMIM:269300
Peho Syndrome	Tapered finger, Retrognathia, Short nose, Pachygyria, Polymicrogyria	OMIM:260565
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Lobulated tongue, Clinodactyly of t...	OMIM:613443
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft palate, Polydactyly, Narrow chest, Short nose	OMIM:613885
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal wide...	OMIM:182212
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide ant...	ORPHA:2021
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Abnormal cortical gyration, Hypoplasia of t...	OMIM:610829
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Pectus carinatum, High palate, Advanced eruption of teeth, Thick nasal...	ORPHA:192
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis...	ORPHA:560
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morpho...	ORPHA:1295
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, High palate, Thoracic kyphos...	OMIM:300232
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Micrognathia	OMIM:615042
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphysea...	ORPHA:1914
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Depressed nasal bridge, Micrognathia, High palate, Short nose	OMIM:614744
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, High palate, Prominent fingertip pads, Short nose	OMIM:300558
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Prominent nose,...	ORPHA:2769
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Short tubular bones of the hand, Micrognathia, Coxa valga, Wide anterio...	ORPHA:85184
Martsolf Syndrome 1	Short metacarpal, Thoracic scoliosis, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the ...	OMIM:212720
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cle...	OMIM:614701
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Dysplasia of the femoral head, High...	OMIM:616854
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Broad nasal tip, Hypoplasia of the maxilla, Abnormal ossification...	ORPHA:79345
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Holoprosencephaly 7	Bilateral cleft palate, Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartil...	OMIM:610828
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract infection...	ORPHA:391372
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Sandal gap, Micrognathia, Tapered finger, Pectus excava...	OMIM:617061
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Clinodactyl...	ORPHA:485405
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Cleft pala...	OMIM:615716
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, Small han...	ORPHA:3121
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Depressed nasal bridge, Hypoplastic ischia	OMIM:616910
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose, Polymic...	OMIM:618774
Opsismodysplasia	Depressed nasal bridge, Tapered finger, Pectus excavatum, Squared iliac bones, Hypoplastic pubic ...	ORPHA:2746
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of the maxill...	ORPHA:481152
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,...	OMIM:219200
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Clinodactyly of the 5th finger, Malar flattening, ...	ORPHA:1699
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Abnormal sternum morphology,...	ORPHA:457395
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Conv...	ORPHA:207
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me...	ORPHA:93351
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Intestinal malrota...	ORPHA:401935
3C Syndrome	Finger syndactyly, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Missing ribs, Hi...	ORPHA:7
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Hyperplasia of the maxilla	OMIM:617616
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Cleft ...	OMIM:200610
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M...	OMIM:227330
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Short nose	ORPHA:496790
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, C...	OMIM:249620
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, High palate, Short clavicles, Osteolytic d...	OMIM:608612
Fg Syndrome 5	Metopic synostosis, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se...	ORPHA:90652
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho...	ORPHA:210548
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, High palate, Wormian bones, Malar fla...	OMIM:601853
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Broad hallux, Periventricular heterotopia, Bulbous nose...	OMIM:614105
Fetal Trimethadione Syndrome	Depressed nasal bridge, High palate, Short nose, Micrognathia	ORPHA:1913
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Protruding tongue, Micrognathia, Malabsorpti...	OMIM:242860
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Micrognat...	OMIM:211750
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos...	OMIM:224690
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Hip contracture, Joint dislocation, Shoulder flexion contracture, Rocker b...	OMIM:193700
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Long fingers, Wi...	ORPHA:3309
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Thoracic kyp...	OMIM:620250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Prominent nose, Joi...	OMIM:300280
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab...	ORPHA:2791
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Dentinogenesis imperfecta, Pectus carinatum, Wormian bones, Short ...	OMIM:259440
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Deviation of the 5th toe, Pect...	ORPHA:391408
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr...	ORPHA:168549
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Micrognathia, Pectus excava...	OMIM:614437
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Overlapping toe, Micrognathia, Clinodactyly, Cutaneous ...	OMIM:617822
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Intestinal malrotation, Narrow nose, Sandal gap, Carious teeth, Long nose, Pectus...	OMIM:617602
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Overlapping toe, Wide nasal bridge, Pectus carinatum, High...	OMIM:619383
Desmosterolosis	Depressed nasal bridge, Intestinal malrotation, Abnormal cortical gyration, Micrognathia, Abnorma...	ORPHA:35107
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Bulbous nose, Clinodactyly, Wide nasal...	ORPHA:369891
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth to...	OMIM:601559
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lo...	OMIM:616462
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Choanal atresia, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib mor...	ORPHA:2759
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert...	OMIM:268310
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at...	ORPHA:884
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowin...	OMIM:608940
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ...	OMIM:272460
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:300534
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Coxa valga, Periventricular heterotopia, Hammertoe, Hip dys...	OMIM:619833
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Hyperplasia of the maxilla	OMIM:613671
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Short n...	ORPHA:2083
Cooper-Jabs Syndrome	Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal ri...	ORPHA:1488
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno...	ORPHA:1790
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Retrognathia, Brachyd...	OMIM:618265
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Cleft palate, Micrognathia	OMIM:601076
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Carious teeth, Pectus excavatum, Small hand, Hypoplasia of ...	ORPHA:1786
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Clinodactyly of the 5th finger	ORPHA:228396
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Micrognathia, S...	OMIM:145420
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Esophageal atresia,...	OMIM:610536
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Anal stenosis, Depressed nasal bridge, Wide nasal bridge	ORPHA:782
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla	OMIM:618587
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Metatarsus adductus, Recurrent upper respi...	ORPHA:293939
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Prominent nose, Overl...	OMIM:618316
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Opsismodysplasia	Short metacarpal, Depressed nasal bridge, Anteverted nares, Anterior rib cupping, Metaphyseal cup...	OMIM:258480
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Anteverted nares, Cleft soft palate, Depressed nasal bridge, Micrognathia, Clinoda...	OMIM:616331
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Bulbous nose, Macroglossi...	ORPHA:261144
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand polydactyly, C...	ORPHA:2166
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Waardenburg Syndrome Type 1	Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft...	ORPHA:894
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia...	ORPHA:59315
Distal Deletion 10Q	Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod...	ORPHA:96148
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Interphalangeal thum...	OMIM:613870
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Anteverted nares, Arachnodactyly, Camptodactyly of finger, Micrognathia...	ORPHA:2462
Eiken Syndrome	Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Long thumb, Cl...	OMIM:600002
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Clavicular sclerosis, Micrognathia, Absent frontal sinuse...	OMIM:224300
Baraitser-Winter Syndrome 1	Anteverted nares, Pachygyria, Duplication of phalanx of hallux, Wide nasal bridge, Lissencephaly,...	OMIM:243310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Overlappi...	OMIM:213980
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Camptodactyly, Neonatal death, Short...	OMIM:610015
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose	OMIM:617802
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Simplified gyral pattern, Clinodact...	OMIM:618828
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest	ORPHA:1354
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atr...	OMIM:259775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Narrow chest, Hypo...	ORPHA:96334
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Persistent open anterior fontanelle, Arachnodactyly, High palate, Camptodactyly, Short nose, Addu...	OMIM:615539
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Cervical C2/C3...	ORPHA:2345
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Pectus excavatum, Wide nasal b...	ORPHA:363659
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Pectus excavatum, Bulbous nose, Wide nasal bridge, Cleft pala...	OMIM:618571
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Short nose, Clinodactyly	OMIM:618087
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Patellar aplasia...	OMIM:613804
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru...	OMIM:211350
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing...	OMIM:223800
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micr...	ORPHA:193
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st...	OMIM:222448
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i...	ORPHA:3078
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Clavicular pseudarthrosis, Bulbo...	OMIM:156200
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Perisylvian pol...	OMIM:616638
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Short nose	OMIM:614732
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology,...	ORPHA:582
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Abnormal hip ...	ORPHA:1486
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger...	ORPHA:2710
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Pectus excavatum, Cleft pa...	ORPHA:1812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Aganglionic megacolon, Broad nasal tip, Tapered finger, Short toe, Wide na...	OMIM:239300
Distal Deletion 9P	High, narrow palate, Wide nasal bridge, Cleft palate, Enlarged thorax, Short nose, Brachydactyly	ORPHA:1642
Nablus Mask-Like Facial Syndrome	Anteverted nares, Depressed nasal bridge, Short hallux, Tapered finger, Hypoplasia of the maxilla...	OMIM:608156
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Flat capital femo...	OMIM:271510
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption...	ORPHA:819
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal...	ORPHA:364577
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, Craniosynosto...	OMIM:616723
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin...	ORPHA:794
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Abnormal rib morph...	ORPHA:3035
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Ap...	ORPHA:958
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Gray ...	OMIM:247200
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Pterygium Colli, Isolated	Short nose	OMIM:177990
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Anteverted nar...	OMIM:101800
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Depressed nasal ridge, Clef...	OMIM:312150
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Hypoplastic nasal septum, Cutaneous finger syn...	OMIM:186500
Toluene Embryopathy	Tapered finger, Short nose, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:1920
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bulbous...	OMIM:609460
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Micrognathia, High palate, Pol...	ORPHA:314655
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ...	ORPHA:251071
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/ste...	ORPHA:314679
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Hypoplasia ...	OMIM:613803
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, High, narrow...	ORPHA:2554
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypo...	OMIM:311900
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Ulnar deviation o...	ORPHA:1358
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Hypoplasia of the nasal bone, Epiphyseal stippling	OMIM:118650
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious...	OMIM:129400
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Underdeveloped nasal a...	OMIM:616007
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, High palate, Lambdoi...	OMIM:123500
Cerebrofaciothoracic Dysplasia	Wide nose, Rib fusion, Cleft palate, Sprengel anomaly, Narrow chest, Bifid ribs, Short nose	ORPHA:1394
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga	OMIM:109120
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Submu...	ORPHA:2588
19P13.13 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Sandal gap, Pectus excavatum, Long fingers, Clinodactyl...	ORPHA:357001
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, D...	OMIM:269500
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ...	OMIM:244460
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal bridge, Narr...	OMIM:617925
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares,...	OMIM:146510
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose	OMIM:616420
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept...	OMIM:303600
Radio-Renal Syndrome	Depressed nasal bridge, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormal rib...	ORPHA:3015
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of the hand, Br...	OMIM:277600
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, 2-3 toe syndactyly, Bilateral choanal...	OMIM:106260
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Micrognathia, Carious teeth, Underdeveloped nasal alae, Wide n...	OMIM:613026
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n...	ORPHA:357074
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Depressed nasal ridge, Clef...	OMIM:253290
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Depressed nasal bridge, Thoracic hypoplasia, Dumbbell-shaped long bone, Hypoplasti...	OMIM:151210
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge, Intestinal malrotation	ORPHA:2143
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Anal stenosis, Wide nasal bridge	OMIM:601499
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence of thumb, Pectus excavat...	ORPHA:476126
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Pectus excavatum, Slender long bone, High palate, Malar flatte...	OMIM:618590
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Pectu...	OMIM:130000
Warburg Micro Syndrome 3	Micrognathia, Narrow palate, Ankle clonus, Clinodactyly of the 5th finger, Short nose, Polymicrog...	OMIM:614222
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, Cli...	OMIM:164200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Wide nose, Broad hallux, Prominent nasal bridge, Micrognathia, Slender f...	ORPHA:251028
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Cleft palate, Di...	ORPHA:1791
Al-Raqad Syndrome	Short nose, Sandal gap, Brachydactyly	OMIM:616459
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, High palate, Short palm, Duplication of the distal phalanx of hand, Dislocated radi...	OMIM:180700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Prominent nasal bridge, Abnormal rib morphology, Tracheoesophageal fis...	ORPHA:3068
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micrognathia, Aplasia of the ulna, High, narrow palate, ...	ORPHA:2879
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft pal...	OMIM:614749
Meier-Gorlin Syndrome 6	Microretrognathia, Depressed nasal bridge, Anteverted nares, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, High palate, Thin ribs	ORPHA:456328
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Wide nasal bridge, Femoral bowing, Thin ribs, Wormian bones	OMIM:617952
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia,...	OMIM:617895
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Wide nasal ridge, Prominent nasal bridge, Underdevelope...	OMIM:616580
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,...	OMIM:166210
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Ab...	ORPHA:96097
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Prominent nose, Metaphyseal sclerosis, Abnormal mandible cond...	ORPHA:2976
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Anal atresia	ORPHA:195
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption	OMIM:152800
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Short nose, Lissencephaly, Adducted thumb	ORPHA:50810
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Micrognathia, Narrow palate, Femoral bowing, Macroglossi...	OMIM:617022
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,...	OMIM:601353
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Fibrous syngnathia, Split hand,...	ORPHA:1300
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Triphalangeal thumb, Short nose, Short distal phalanx of finger	ORPHA:1912
Micro Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Lissencephaly, Short nose, Pachyg...	ORPHA:2510
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Narrow greater sciatic n...	ORPHA:508533
Tetrasomy 18P	Short nose, Abnormality of neuronal migration	ORPHA:3307
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Depressed nasal bridge, Arachnodactyly, Camptodacty...	ORPHA:261344
Bainbridge-Ropers Syndrome	Anteverted nares, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Depressed nasal b...	OMIM:615485
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Abnormal cortical gyration, Microgna...	ORPHA:521426
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Short nose	ORPHA:99688
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Thin ribs, Slender long...	OMIM:259420
Split Lower Lip	Narrow maxilla	OMIM:183400
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon...	ORPHA:239
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap	OMIM:300887
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Pectus excavatum, Abnormality ...	ORPHA:261236
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Furrowed tongue, ...	OMIM:615108
Cole-Carpenter Syndrome 2	Microretrognathia, Wide cranial sutures, Pectus excavatum, Thin ribs, High palate, Lambdoidal cra...	OMIM:616294
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Simplified gyral patt...	OMIM:615803
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Broad nasal tip, Patellar apl...	ORPHA:96061
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Hig...	ORPHA:363528
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal de...	OMIM:253000
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Coronal craniosynostosis, Abnormal metacarpal morphology, Aplasia/Hypo...	ORPHA:2095
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hip dislocation, Wide nasal bridge, High palate, Short nose, Retrognathia	OMIM:618005
Momo Syndrome	Delayed eruption of teeth, Dental malocclusion, Wide nasal bridge, Taurodontia, High palate, Shor...	OMIM:157980
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Narrow chest, Abno...	ORPHA:95699
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Cleft palate, Micrognathia	ORPHA:1915
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Short ...	OMIM:616430
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Ankle clonus,...	OMIM:615398
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Abnormal cortical gyration, Long fingers...	OMIM:617527
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Short thorax, Genu valgum	ORPHA:2983
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Anteverted nares, Slender long bone, Cubitus valgus, Short nose	ORPHA:1185
Autosomal Recessive Robinow Syndrome	Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Synostosis of carpal bones, Finge...	ORPHA:1507
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Multiple joint dislocation, Pectus carinatum, High palate, An...	ORPHA:536467
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi...	ORPHA:46059
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Depressed nasal bridge, Anteverted nares, Camp...	ORPHA:2311
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella	OMIM:617865
Omodysplasia 1	Short humerus, Depressed nasal bridge, Increased fibular diameter, Micrognathia, Limited knee fle...	OMIM:258315
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Simplified gyral patter...	OMIM:300749
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shap...	ORPHA:73230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalange...	ORPHA:544503
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Overlapping to...	ORPHA:254528
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Furrowed tongue, ...	OMIM:615109
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Hypoplasia of the maxilla, Short metatarsal, Elbow flex...	OMIM:608328
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, Short sternum, M...	OMIM:257300
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,...	OMIM:618430
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas...	ORPHA:2399
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Simplified gyral pattern, Wide nasal bridge, Short nos...	OMIM:619179
Acrocallosal Syndrome	Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Bifid uvula, Microretrognathi...	OMIM:200990
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Retrognathia, High palate, Thin ribs	OMIM:300219
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Perisylvian polymicrogyria, Abnormal rib morphology	ORPHA:280195
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Micrognathi...	OMIM:230740
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	High palate, Short nose, Dental malocclusion, Micrognathia	ORPHA:329178
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Recurrent upper respiratory tract infections, Genu valgum, Macro...	ORPHA:583
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ...	ORPHA:2031
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Wide nasal bridg...	OMIM:613603
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the temporomandibular joint, Micrognathia, Metaphyseal widening...	ORPHA:536471
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Bartsocas-Papas Syndrome 1	Syndactyly, Anal stenosis, Short metacarpal, Hypoplastic scapulae, Pterygium, Micrognathia, Hypop...	OMIM:263650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Short nose	ORPHA:284169
Orofaciodigital Syndrome Type 3	Hamartoma of tongue, Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Postaxial foot p...	ORPHA:2752
Down Syndrome	Aganglionic megacolon, Depressed nasal bridge, Sandal gap, Protruding tongue, Depressed nasal rid...	ORPHA:870
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Slender long bone, P...	OMIM:612731
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Prominent nasal bridge, Camptodactyly...	ORPHA:2215
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Clinodactyly, Dental malocclu...	OMIM:616894
Congenital Disorder Of Glycosylation, Type Il	Short nose, Depressed nasal bridge, Hip dislocation	OMIM:608776
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Long nose, Bulbous nose, High palate, Short sternum, Clinodactyly of...	OMIM:620113
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, T...	OMIM:613458
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Thickened cortex of long bones, Abnormal rib morphology, Small hand, Depressed n...	ORPHA:488434
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Coxa vara, Pectus carinatum, Short palm, Clinodactyly of the 5...	ORPHA:3107
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Micrognathia, Carious teet...	ORPHA:177907
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Depressed nasal bridg...	OMIM:614188
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Micrognathia, ...	OMIM:115150
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Depressed nasal bridge, Thoracolumbar ky...	ORPHA:1299
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Mic...	OMIM:244450
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Orofaciodigital Syndrome Type 4	Joint dislocation, Micrognathia, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia o...	ORPHA:2753
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Femora...	OMIM:231070
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Pectus excavatum, Pectus carinatum, High palate, Clinodac...	ORPHA:65286
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Recurrent joint dislocation, Craniosynostosis, Tapered finger, Malrotation of ...	ORPHA:2953
Trisomy 18	Microretrognathia, Choanal atresia, Camptodactyly of finger, Esophageal atresia, Postaxial hand p...	ORPHA:3380
Trisomy 10P	Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Micrognathia, ...	ORPHA:171929
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Clinodactyly, Cleft palate, Anterior...	ORPHA:3338
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Recurrent sinusit...	OMIM:604173
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Craniosynostosis, Pos...	OMIM:605627
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Delayed cranial suture closure, Tapered finger, Pe...	OMIM:601088
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Micrognathia, ...	OMIM:613848
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Short thumb, Abnormal rib ...	ORPHA:2876
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Malabsorption, Underdeveloped nasal alae, Anteriorly placed anus, Abno...	ORPHA:2315
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Proximal placement of th...	ORPHA:261112
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, H...	OMIM:613457
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prom...	ORPHA:251061
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Beaded ri...	OMIM:616229
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bulbous nose, 2-3...	OMIM:618454
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, High palate,...	OMIM:614080
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdev...	OMIM:300912
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, High palate, Hypopl...	OMIM:180849
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Anteverted nares, Depressed nasal bridge, Pe...	ORPHA:97360
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Pectus carinatum, Narrow ches...	ORPHA:175
Cadds	Short nose, Micrognathia	ORPHA:369942
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Overlapping toe, Prominent nasal bridge, Hypoplasia of t...	OMIM:139210
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Increased femo...	OMIM:619005
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate...	OMIM:271640
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Protruding tongue, Absent fronta...	OMIM:301040
Zttk Syndrome	Depressed nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Submucous cleft hard palate,...	OMIM:617140
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate...	ORPHA:457279
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Craniosynostosis, Bowing...	ORPHA:89936
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs, Abnormal rib morphology, Aplas...	ORPHA:3301
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Shortenin...	OMIM:614207
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Abnormality of neuronal migration	ORPHA:2772
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Furrowed tongue, ...	OMIM:158350
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Neonatal death, Short nose, Retrognathia,...	OMIM:608013
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Craniosynostosis, Micrognathia, Bulbous nose, Clinodactyly, Clinodactyly ...	OMIM:614114
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Anteverted nares, Depressed nasal bridge, Overla...	ORPHA:264450
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Trisomy 13	High, narrow palate, Postaxial hand polydactyly, Abnormal rib morphology, Cleft palate, Abnormal ...	ORPHA:3378
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Hamartomatous stomach polyps, Wi...	OMIM:109400
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Hyperparathyroidism, Transient Neonatal	Wide cranial sutures, Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal spurs, W...	OMIM:618188
Weiss-Kruszka Syndrome	Prominent metopic ridge, Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th f...	OMIM:618619
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Abnormal rib morphology, Tracheoesophageal f...	ORPHA:1834
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Dislocated radial ...	ORPHA:2044
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia o...	ORPHA:861
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, P...	ORPHA:1101
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Overlappin...	OMIM:612394
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Protruding tongue	OMIM:105830
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Clinodactyly of the ...	OMIM:300373
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Cleft palate, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnorma...	OMIM:118100
Scarf Syndrome	Barrel-shaped chest, Prominent nasal bridge, Wide nasal bridge, Coronal craniosynostosis, Pectus ...	OMIM:312830
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal...	ORPHA:2167
Monosomy 9Q22.3	Delayed eruption of teeth, Pectus excavatum, Abnormal rib morphology, Polydactyly, Metopic synost...	ORPHA:77301
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Malar flattening, Short nose, ...	OMIM:229400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Geleophysic Dysplasia 1	Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, Short foot, ...	OMIM:231050
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depres...	OMIM:114290
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Short nose, Polymicrogyria, Clinodactyly of the 4th toe,...	OMIM:614225
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Missing ribs, Pyloric stenosis, Pectus ex...	OMIM:147791
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa valga, Abnormal zygomat...	ORPHA:3342
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology	ORPHA:2475
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Protruding tongue, Micrognathia, Overlapping fingers, Short nose, Retrognathia, Adduct...	OMIM:608779
Cardiofaciocutaneous Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal morphology of ulna, Pectus excavatum, Submucou...	ORPHA:1340
Short-Rib Thoracic Dysplasia 12	Natal tooth, Brachydactyly, Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, Bo...	OMIM:269860
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Anteverted nares, Overlapping toe, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Distal Deletion 19P	Hypoplasia of the maxilla, Long toe, Arachnodactyly, Cleft palate	ORPHA:96129
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Short nose, Joint contrac...	OMIM:602398
Alg9-Cdg	Microretrognathia, Villous atrophy, Hitchhiker thumb, Depressed nasal bridge, Prominent metopic r...	ORPHA:79328
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Slender finger, Small hand, Wide...	ORPHA:1449
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cleft palate, Short no...	ORPHA:280200
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Anteverte...	ORPHA:373
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Tapered finger, Pectus excavatum, Abnormality of the elbow, Wide ...	ORPHA:319182
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Micrognathia, Preaxial hand polydac...	ORPHA:261318
Tarp Syndrome	Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pec...	ORPHA:2886
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Tibial bowing, Anteriorly placed anus, High palate, C...	ORPHA:798
Aymé-Gripp Syndrome	Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered fi...	ORPHA:1272
Pyknoachondrogenesis	Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wi...	ORPHA:3003
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate...	ORPHA:2282
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Peho Syndrome	Malar flattening, Short nose, Anteverted nares, Tapered finger	ORPHA:2836
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Po...	OMIM:263520
Macrocephaly/Autism Syndrome	Depressed nasal bridge, High palate, Short nose	OMIM:605309
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Pectus c...	OMIM:609942
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation...	ORPHA:2308
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Clinodactyl...	ORPHA:1465
Hurler Syndrome	Abnormal clavicle morphology, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, ...	ORPHA:93473
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Clinodactyly of the 5th...	ORPHA:52
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Pectus carinatum, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsa...	OMIM:276820
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Pyloric stenosis, Macroglossi...	ORPHA:261494
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs...	OMIM:157170
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Brachydactyly, ...	OMIM:601358
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Anteverted nares, Sinusitis, Xerostomia	ORPHA:238468
White-Kernohan Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Anteriorly placed anus, Hip ...	OMIM:619426
Campomelia, Cumming Type	Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Cleft palate, Club...	ORPHA:1318
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Prominent metopic ridge	ORPHA:79134
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cubit...	OMIM:617157
Schwartz-Jampel Syndrome	Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Supernumerary ...	ORPHA:800
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Micrognathia, Tapered...	OMIM:309590
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Vo...	ORPHA:2970
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Metopic synostosis	OMIM:613735
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
C Syndrome	Joint dislocation, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus...	ORPHA:1308
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Short middle phalanx of fi...	OMIM:301030
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Exaggerated me...	OMIM:312870
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Clinodactyly...	OMIM:301044
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge, Pectus carinatum	OMIM:617988
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Micrognathia, Underd...	OMIM:618332
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Clinod...	ORPHA:1519
Aspergillosis	Sinusitis, Abnormal rib morphology, Nasal congestion, Abnormal long bone morphology, Abnormal eso...	ORPHA:1163
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anal stenosis, Brachydactyly, Anteverted nares, Proportionate shortening of al...	ORPHA:280633
Adenylosuccinase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares	OMIM:103050
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Toe syn...	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Toe syndactyly, Absence of Stensen duct, Choanal atresia, Broad ...	OMIM:129900
Occipital Horn Syndrome	Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Hiatus hernia, Coxa va...	OMIM:304150
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Po...	OMIM:607330
Ogden Syndrome	Congenital hip dislocation, Micrognathia, High palate, Clinodactyly of the 5th finger, Microretro...	OMIM:300855
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of th...	ORPHA:500150
Helsmoortel-Van Der Aa Syndrome	Prominent fingertip pads, Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Carious te...	OMIM:615873
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, High palate, Short palm, Clinodactyly of the 5t...	OMIM:613406
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Retrognathia, Short nose, Malabsorption	OMIM:601675
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Bent Bone Dysplasia Syndrome 2	Depressed nasal bridge, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Sh...	OMIM:620076
Fontaine Progeroid Syndrome	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Craniosynostosis, Micrognathia, Protru...	OMIM:612289
Chops Syndrome	Anteverted nares, High, narrow palate, Cervical C2/C3 vertebral fusion, Short nose, Brachydactyly	OMIM:616368
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r...	OMIM:610682
Deeah Syndrome	Overlapping fingers, Malabsorption, Narrow palate, High palate, Prominent nasal tip, Short nose, ...	OMIM:619004
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal fe...	ORPHA:666
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped...	ORPHA:920
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Supernumerary tooth, Postaxial hand polydactyly, A...	OMIM:617088
Kleefstra Syndrome Due To 9Q34 Microdeletion	Macroglossia, Short nose, Anteverted nares, Protruding tongue	ORPHA:96147
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Broad nasal ...	ORPHA:268261
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Humeroradial synostosis, A...	ORPHA:3404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Pallister-Hall Syndrome	Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Ante...	ORPHA:672
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint dislocation, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Pect...	OMIM:601776
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Micrognathia, Prominent nose, Rib exostoses, Clinodacty...	OMIM:150230
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus adductus, Osteopathia striata,...	ORPHA:513456
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, High palate, Short nose, Convex nasal ridge	OMIM:300661
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Anteverte...	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Dominant Beta-Thalassemia	Bowing of the long bones, Depressed nasal bridge, Malar prominence, Genu valgum, Hyperplasia of t...	ORPHA:231226
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Gray matter ...	OMIM:618820
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Malabsorption, Carious teeth, Wide nasal brid...	ORPHA:93
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Hypoplasia of the maxilla, Carious teeth, Tracheoesophageal f...	ORPHA:1775
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Antever...	ORPHA:818
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose, Micrognathia	ORPHA:293948
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Aganglionic megacolon, Short palm, Short nose, Brachydactyly	ORPHA:3339
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Short nose	ORPHA:2719
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Pectus carinatum, Abnormal sternum morphology, Finger syndactyly...	ORPHA:2911
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Xerostomia, Abnormal rib morphology, Abnorma...	ORPHA:2907
Primrose Syndrome	Hip contracture, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the max...	OMIM:259050
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micrognathia, Clinodactyly, Sh...	OMIM:618460
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Postaxial hand polydactyly, Hypoplasia of the small intestin...	OMIM:200995
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Ma...	ORPHA:444077
Ctcf-Related Neurodevelopmental Disorder	Broad hallux phalanx, Anteverted nares, Sandal gap, Craniosynostosis, Broad nasal tip, 2-3 toe sy...	ORPHA:363611
Beta-Thalassemia Major	Bowing of the long bones, Depressed nasal bridge, Malar prominence, Genu valgum, Hyperplasia of t...	ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Sandal gap, Broad nasal tip, Long fingers, Wide nasal...	OMIM:620330
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
Peters-Plus Syndrome	Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limited elbow movement, Sho...	OMIM:261540
Geleophysic Dysplasia 2	Cone-shaped epiphysis, Short nose, Short foot, Short palm	OMIM:614185
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morphology, Tracheoesophageal fistula,...	ORPHA:887
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous nose, Tapered fin...	OMIM:619522
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla	OMIM:313500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Pectus carinatum, Macroglossia, Thoracic kyphosis, Short nose	ORPHA:505248
Degcags Syndrome	Syndactyly, Toe syndactyly, Jejunal atresia, Prominent nasal bridge, Anteverted nares, Protruding...	OMIM:619488
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Anal stenosis, Wide nasal bridge, Anal atresia	OMIM:180500
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Anteverted nares, Intes...	ORPHA:2729
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, A...	ORPHA:667
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Carious teeth, Eso...	ORPHA:2908
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic...	OMIM:619503
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Genu valgum, Short nose, Convex nasal ridge	OMIM:619321
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, 2-3 toe syndactyly, Equinus calcaneus	ORPHA:522077
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Adenoiditis, Malabsorption, Avascular ne...	ORPHA:581
Dextrocardia	Congenital hip dislocation, Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation	ORPHA:1666
Pallister-Killian Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Camptodactyly of 2nd-5th finger...	OMIM:601803
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, High, narrow palate, Short uvula, Bulbous nose, Wide nasal bridge, Depressed na...	OMIM:619475
Peters Plus Syndrome	Intestinal fistula, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Short...	ORPHA:709
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Esophageal atresia, ...	OMIM:192350
Charge Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Abnormal soft palate morpholo...	ORPHA:138
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia...	ORPHA:534
Williams Syndrome	Micrognathia, Rectal prolapse, Clinodactyly of the 5th finger, Abnormal dental enamel morphology,...	ORPHA:904
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Williams-Beuren Syndrome	Colonic diverticula, Hallux valgus, Anteverted nares, Depressed nasal bridge, Down-sloping should...	OMIM:194050
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, C...	OMIM:164210
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog...	ORPHA:141099
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,...	OMIM:118450
Charge Syndrome	Hypoplasia of the ulna, Anal stenosis, Choanal atresia, Down-sloping shoulders, Micrognathia, Abs...	OMIM:214800
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Abnormality of neuronal migration	ORPHA:991
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia	ORPHA:49
Townes-Brocks Syndrome	Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d...	ORPHA:857
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge	OMIM:606721

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 Schip1

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 Schip1.

No publications found that use IMPC mice or data for Schip1.

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MGI Allele	Allele Type	Produced
Schip1^{tm462823(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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