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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar flattening, Clinodactyly of the... ORPHA:217340
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micrognathia, Bell-... OMIM:614524
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, High palate, Short foot, Short nose OMIM:300577
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Deviation of finger, Anteve... ORPHA:2412
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose OMIM:137550
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal... ORPHA:1248
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Short nose... OMIM:614753
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxilla, Depressed nasal brid... ORPHA:1529
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation,... ORPHA:1513
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, G... OMIM:614078
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Convex nasal ridge, Pectus excavatum, High palate, Short nose ORPHA:1695
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Micrognathia, Promine... ORPHA:1703
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Del... ORPHA:166272
Peho-Like Syndrome
Retrognathia, Polymicrogyria, Short nose, Pachygyria, Lissencephaly, Tapered finger OMIM:617507
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial osteosclerosis... OMIM:122860
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Prominent nasal bridge, Pectus excavat... OMIM:300676
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, High palate, Short nose ORPHA:261120
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification... OMIM:269250
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Hypoplasia of the maxilla, Bro... OMIM:136760
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology... ORPHA:90653
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micrognathia, Malar flattening, Brachydactyly, Split hand, Abnormal rib morpho... ORPHA:2145
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Pectus carinat... ORPHA:261295
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Short nose, Clinodactyly of t... OMIM:619736
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Bulbous... ORPHA:2180
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Depressed nasal bridge, Narrow chest, Short nose, Anteverted nares, Micrognathia,... ORPHA:163649
Atelosteogenesis, Type Iii
Depressed nasal bridge, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bo... OMIM:108721
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Hypoplasia of the maxilla, Bro... OMIM:252100
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Brachydactyly, Short long bone, Shor... ORPHA:221054
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Anteverted nares, M... ORPHA:1716
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Genu v... OMIM:620099
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, B... ORPHA:2831
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Kyphomelic Dysplasia
Narrow chest, Micrognathia, Undulate ribs, Missing ribs, Bowing of the long bones, Anterior rib c... ORPHA:1801
Achondrogenesis Type 1B
Narrow chest, Short thorax, Anteverted nares, Micrognathia, Abnormal rib morphology, Short foot, ... ORPHA:93298
Achondrogenesis Type 1A
Narrow chest, Short thorax, Anteverted nares, Micrognathia, Multiple rib fractures, Short nose, S... ORPHA:93299
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Microglossia, Micrognathia, S... OMIM:241800
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... ORPHA:950
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, High pa... ORPHA:85279
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Retrognathia, Short nose OMIM:613670
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Abnormal rib morphology, Pectus excavatum,... OMIM:602196
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morphol... ORPHA:2790
Rhiny
Anteverted nares, Short nose OMIM:180360
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax OMIM:601809
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... ORPHA:2370
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Clinodactyly of the 5th finger, High palate, Short nose, Wide nose ORPHA:217385
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Prominence of the premaxilla, Delayed closure of the anterior ... OMIM:614886
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Clinodactyly of the 5th finger, Rocker bottom foot, Delayed eruption of permane... OMIM:618506
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... ORPHA:969
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Arachno... ORPHA:776
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Anteverted nares, Sho... OMIM:618961
Recon Progeroid Syndrome
Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Long thumb, Prominence of th... OMIM:620370
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Radial head subluxation, Anal atresia, H... OMIM:601390
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Pectus excavatum, Sho... ORPHA:2835
Weiss-Kruszka Syndrome
Prominent nasal tip, Clinodactyly of the 5th finger, Proximal placement of thumb, Short nose, Pro... ORPHA:502430
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... ORPHA:2097
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormal mandible morphology ORPHA:401942
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Short nose ORPHA:2598
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed... ORPHA:83
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, High palate, Short... OMIM:617991
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Flattened epiphysis, Advanced ossific... OMIM:251450
Aarskog-Scott Syndrome
Genu recurvatum, Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Del... ORPHA:915
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Abnormality of the calcaneu... ORPHA:163966
Marshall-Smith Syndrome
Prominence of the premaxilla, Bullet-shaped middle phalanges of the hand, High palate, Short nose... OMIM:602535
3Mc Syndrome 2
Wide nasal bridge, Caudal appendage, Depressed nasal tip, Prominent nasal bridge, Limited elbow m... OMIM:265050
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose, Prominent metopic ridge ORPHA:46
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Mic... ORPHA:93267
Achondrogenesis, Type Ia
Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphology, Bell-shap... OMIM:200600
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Short 1st metacarpal, Elbow dislocation, Short nose, Micrognathia, Malar ... ORPHA:93328
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Brachydactyly, Cam... OMIM:613604
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microgloss... ORPHA:1307
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Pectus carinatum, Toe syndactyly, Anteverted nares, Micrognathia, Short c... ORPHA:171839
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Pachygyria, Bulbous nose, Hypoplasia of the maxilla, Subcortical band heterotopia OMIM:618737
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Micrognathia, Bell-shaped thorax, Broad phalanx, Anterior rib cupping, High pal... OMIM:271665
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Finger syndactyly, Short nose ORPHA:1514
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Anteverted nares, Micrognathia, Abnor... ORPHA:1895
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Ulnar de... OMIM:618577
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Genu valgum, Long thorax, Postaxial polydactyly, Overhanging nasal tip OMIM:619142
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose ORPHA:163961
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Malar flattening, Brachydactyly,... OMIM:614613
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of the zygoma... ORPHA:1798
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... OMIM:156530
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Aglossia, Micrognathia, Malar flattening, Ch... OMIM:241310
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Wide ... OMIM:613320
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolys... OMIM:166300
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n... ORPHA:439822
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Abnormal mandible mo... ORPHA:83451
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypopl... OMIM:300863
Cenani-Lenz Syndrome
Synostosis of joints, High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syn... ORPHA:3258
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Wormian bones, 2-5 finger cutaneous syndactyly, Bra... OMIM:601224
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Elbow dislocation, Pterygium, Anteverted nares, Abnormal femur morphology... ORPHA:93329
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, High palate, Low hanging colu... OMIM:617752
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Sandal gap, Finger syndactyl... ORPHA:178303
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Genu valgum, Malar flattening, Delayed eruption of teeth ORPHA:2972
Miller-Dieker Syndrome
Lissencephaly, Clinodactyly of the 5th finger, Anteverted nares, Short nose ORPHA:531
Aicardi Syndrome
Small hand, Block vertebrae, Polymicrogyria, Intestinal polyposis, Prominence of the premaxilla, ... ORPHA:50
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Short nose, Camptodactyly of finger ORPHA:1495
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, D... OMIM:619356
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Short thorax, Anteverted nares, Missing ribs, Abnormal rib morphology, Posteri... ORPHA:1797
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Non-Distal Duplication 13Q
Narrow chest, Micrognathia, Arachnodactyly, Postaxial hand polydactyly, High palate, Short nose ORPHA:1702
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, High palate, 2-5 toe syndactyly, Hip... OMIM:206920
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocati... ORPHA:628
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Camptodactyly of fing... ORPHA:2635
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Wide nose, Brachydactyly... OMIM:614261
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Achondrogenesis
Narrow chest, Anteverted nares, Micrognathia, Short thorax, Short nose ORPHA:932
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges o... ORPHA:2547
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormal distal phalanx morphology of finger, Prominent nasal bridg... ORPHA:2673
Harel-Yoon Syndrome
Pectus carinatum, Micrognathia, Hip dysplasia, Mandibular prognathia, Short nose OMIM:617183
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, High palate, Shor... OMIM:218000
Aicardi Syndrome
Block vertebrae, Polymicrogyria, Anteverted nares, Gray matter heterotopia, Prominence of the pre... OMIM:304050
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Pectus carinatum, Broad thumb, Clinodactyly, Hyperplasia of the maxilla, Long hallux, Prominent n... OMIM:620194
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, High palate, Hypoplasia of the maxilla, ... OMIM:615546
Perlman Syndrome
Wide nasal bridge, High, narrow palate, Retrognathia, Anteverted nares, Micrognathia, Short nose ORPHA:2849
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g... OMIM:618529
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Anterior open-bite malocclusion, A... OMIM:617877
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Anteverted nares, Brachydactyly, Pectus excavatum, Short nose, Abnormality of the ... ORPHA:2701
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Anteverted... OMIM:616897
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Abnormal metacarpal morphology, H... ORPHA:1452
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Postaxial hand polydactyly ORPHA:1389
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Branchial cyst, Retrognathia,... OMIM:615583
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Peg-shaped maxillar... ORPHA:199306
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Tr... OMIM:616367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... OMIM:614069
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Micrognathia, Malar ... OMIM:620157
Renpenning Syndrome
High, narrow palate, Broad columella, Prominent nose, Abnormal thumb morphology, Malar flattening... ORPHA:3242
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo... OMIM:166250
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Micrognathia, Prominent nasal bridge, High palate, Short nose OMIM:613544
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Micrognathia, Malar flattening, Short nose,... ORPHA:79113
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
X-Linked Intellectual Disability, Porteous Type
Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal metacarpal morphology, Bra... ORPHA:93262
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Meckel diverticulum, Metopic synostosis, Craniosynostosis... OMIM:190440
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Malar flattening, Short nose,... OMIM:602342
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Talon cusp, Retrognathia, Microg... ORPHA:2409
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, N... ORPHA:3082
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under... ORPHA:1234
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Three M Syndrome 2
Thin ribs, Short 5th finger, Depressed nasal bridge, Pectus carinatum, Dental malocclusion, Slend... OMIM:612921
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Mic... OMIM:608149
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Depressed nasal bridge, Abnormal ep... ORPHA:50945
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Thoracic hypoplasia, Polymicrogyria, Micrognathia,... OMIM:608022
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Short sternum, Postaxial hand polydactyly,... OMIM:258850
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia ORPHA:93950
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Micrognathia, Barrel-shaped chest, Neonatal death, Dia... OMIM:215140
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, High palate,... OMIM:182212
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micrognathia, Conve... ORPHA:2522
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Short nose OMIM:614744
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Pectus carinatum, Micrognathia, Short nose OMIM:615419
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of... OMIM:305400
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Thoracic kyphosco... ORPHA:313892
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Anterior rib cupping, Flattened epiphysis, High palate, Broad nasal tip, Small epiphys... OMIM:300232
Holoprosencephaly 9
Choanal atresia, Abnormal cortical gyration, Hypoplasia of the premaxilla, Hypoplasia of the maxi... OMIM:610829
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent... OMIM:309520
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho... OMIM:613443
Coffin-Lowry Syndrome
Craniofacial hyperostosis, High palate, Short metacarpal, Wide nose, Pectus carinatum, Hypoplasia... ORPHA:192
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Abnormal diaphysis morphology, Campto... ORPHA:2021
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, ... OMIM:269300
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Peho Syndrome
Retrognathia, Polymicrogyria, Pachygyria, Short nose, Tapered finger OMIM:260565
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty... ORPHA:93259
Meckel Syndrome, Type 8
Depressed nasal ridge, Narrow chest, Polydactyly, Short nose, Cleft palate OMIM:613885
Martsolf Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Broad femoral neck, Short toe... OMIM:212720
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic... ORPHA:560
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Genu valgum, Abnormal ... ORPHA:1295
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Depressed nasal bridge OMIM:167730
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Anteverted nares, Epiphy... ORPHA:1914
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Short nose OMIM:615042
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Depressed nasal ridge, Hypoplasia of the maxilla, Abnormality of ... ORPHA:79345
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Anteverted nares, Prominent nasal bridge, High palate, Short nose OMIM:300558
Even-Plus Syndrome
Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, High... OMIM:616854
Marshall Syndrome
Radial bowing, Micrognathia, Knee osteoarthritis, Absent frontal sinuses, Small proximal tibial e... OMIM:154780
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Depressed nasal ridge, Bifid femur, Failure of eruption of permanent teeth, El... ORPHA:2769
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Retrognathia, Bulbous nose, Micrognathia, ... OMIM:617061
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Pectus carinatum, Velopharyngeal insufficiency, Intestinal malrotation, Anteve... OMIM:614701
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Short nose, Delayed cranial suture closure ORPHA:1129
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Polymicrogyria, Anteverted nares, High palate, Sho... OMIM:618774
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa... OMIM:302950
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Retrognathia, Bulbous nose, Clin... ORPHA:485405
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Short nose, Shortening of all distal phalanges of the fingers... OMIM:615716
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Intestinal malrotation, Prominent nasal bridge, Limited elbow ext... ORPHA:401935
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Narrow chest, Ab... ORPHA:3121
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Polymicrogyria, Anteverted nares, Malar flattening, Pa... OMIM:219200
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Depressed nasal tip, M... OMIM:610828
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Convex nasal ridge,... ORPHA:207
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Broad hallux, Bulbous nose, Anteverted ... ORPHA:481152
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Opsismodysplasia
Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Brachydactyly, ... ORPHA:2746
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Trisomy 12P
Wide nasal bridge, Micrognathia, Malar flattening, Short nose, Clinodactyly of the 5th finger, An... ORPHA:1699
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibial metaphyseal... ORPHA:457395
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Fetal Trimethadione Syndrome
Depressed nasal bridge, High palate, Micrognathia, Short nose ORPHA:1913
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Delayed eruption of... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Upper limb undergrow... ORPHA:93351
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Preaxial hand polydactyly, Intestinal polyposis, Lymphoid nodular hyperpl... ORPHA:210548
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Anteverted nares, Micrognathia, Cleft palate OMIM:617616
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Narrow chest, Clinodactyly, Anteriorly placed anus, Anteverted nares, Mic... OMIM:217980
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Pectus carinatum, Micrognathia, Hip dysplasia, Mandibular prognathia, Short nose ORPHA:496790
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose, Metopic synostosis OMIM:300581
Tetrasomy 5P
Wide nasal bridge, Overlapping toe, Micrognathia, Anteverted nares, Short hallux, Long fingers, C... ORPHA:3309
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Anteverted nares, Prominent nas... OMIM:227330
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Clinodactyly of the 5t... OMIM:249620
3C Syndrome
Wide nasal bridge, High, narrow palate, Depressed nasal bridge, Finger syndactyly, Intestinal mal... ORPHA:7
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Progressive clavicular acroosteolysis, Micrognathia, Short clavic... OMIM:608612
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Craniofacial hyperostosis, Delayed... ORPHA:2484
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Hor... OMIM:200610
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Malar flattening, Wormian bones, Craniosynostosis, High palate, Wide anterior f... OMIM:601853
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypoplastic ischia, Short nose, Polydactyly OMIM:616910
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil... OMIM:300280
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Retrognathia, Anteverted nares, Protruding tongue, Bowing of ... ORPHA:561
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Joint contracture of the hand, Shoulder flexion contracture, Joint dislocation... OMIM:193700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Bulbous nose, Camptodactyly, Macroglossi... ORPHA:369891
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Retrognathia, Thoracic kyphosis, Micrognathia, Narrow palate, Hypoplasia of te... OMIM:620250
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality of the wrist, Wide nose, Radioul... ORPHA:2319
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excava... OMIM:259440
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Anteverted nares, Micrognathia, Down-sloping shoulders, Slender toe... ORPHA:391408
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bo... OMIM:601559
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Pectus carinatum, Broad columella, Delayed cranial suture closure, Overlapping... OMIM:619383
Otodental Syndrome
Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth, Abnormal molar morphol... ORPHA:2791
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Broad hallux, Bulbous nose, Anteverted nares, Periventricular heterotopia... OMIM:614105
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Sandal gap, Narrow maxilla, Intestinal malrotation, Narrow nose, Arachnodactyly, A... OMIM:617602
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar flattening, Sinu... OMIM:242860
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Apl... OMIM:609945
Alkuraya-Kucinskas Syndrome
Lissencephaly, Depressed nasal bridge, Clinodactyly, Overlapping toe, Overlapping fingers, Microg... OMIM:617822
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe... OMIM:300534
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, C2-C3 subluxation, Tarsal synostosis, Short metacarpal, ... OMIM:272460
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Narrow ches... ORPHA:50814
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Anal atresia, Short... ORPHA:884
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Choanal stenosis, Short nose, Cr... ORPHA:1790
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Hypoplasia of the maxilla ORPHA:782
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose OMIM:300143
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Dental malocclusion, Clinoda... OMIM:616331
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing rib... ORPHA:2759
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Depressed nasal bridge, Clinodactyly, Delayed eruption of teeth, ... OMIM:615866
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Wide nose, Hypo... OMIM:211380
Apert Syndrome
Bifid uvula, Choanal atresia, Broad thumb, Toe syndactyly, Finger syndactyly, Delayed eruption of... ORPHA:87
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Prominence of the premaxilla, A... OMIM:614437
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Ant... OMIM:145420
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Micrognathia, Periventricular heterotopia, Acetabular dysplasia, Coxa val... OMIM:619833
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta OMIM:601216
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Choanal atresia, Preaxial hand polydactyly, Anteverted nares, Micrognathia, Malar... OMIM:610536
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Abnormal hip bone morphology, Anteverted nares, ... ORPHA:1488
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Brachyd... ORPHA:2083
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:293939
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Convex nasal ridge, Short nose OMIM:200130
Acrofacial Dysostosis, Catania Type
Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hypoplasia of the zygomatic bone... ORPHA:1786
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia, Anteverted nares ORPHA:228396
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Desmosterolosis
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Depressed nasal bridge, Abnormality of th... ORPHA:35107
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Brachydactyly, Craniosynostosis, Cleft ... OMIM:618265
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Intestinal malrotation, Overlapping toe, Overlapping f... OMIM:618316
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Long hallux,... OMIM:600002
Raine Syndrome
Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Natal tooth, Thoracic hypoplasia,... OMIM:259775
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Arachnodactyly, Adducted thumb, Camptodactyly, High palate, ... OMIM:615539
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Wide nasal bridge, Tapered toe, Shoulder flexion contracture, Slender long bone, Retro... OMIM:620369
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco... OMIM:613870
Baraitser-Winter Syndrome 1
Wide nasal bridge, Lissencephaly, Retrognathia, Anteverted nares, Duplication of phalanx of hallu... OMIM:243310
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Opsismodysplasia
Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Posterior rib cupping, Short nose, Ant... OMIM:258480
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Clinodactyly of the 5th finger, Sho... OMIM:618828
Shprintzen-Goldberg Syndrome
High, narrow palate, Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Elbow dislocation... ORPHA:2462
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Stenosis of the medullary c... ORPHA:93324
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Camptodactyly, Short... OMIM:610015
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Macroglossia, Mandibular prognathia, Short nose, Prominent ... ORPHA:261144
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology ORPHA:1354
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Narrow chest, Overlapping toe, Micrognathia, Wide n... OMIM:213980
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Sprengel anomaly, Cleft palate, Abnormal rib morphology OMIM:601076
Distal Deletion 10Q
Clinodactyly, Micrognathia, High palate, Anal atresia, Hip dislocation, Short nose, Prominent fin... ORPHA:96148
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Aganglionic megacolon, Trach... ORPHA:59315
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Clinodactyly, Slender long bone, Elbow dislocation, Hypoplasia of the ... OMIM:613805
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Absent nares, Postaxial hand ... ORPHA:2166
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Volvulus, Micrognathia, Short nose OMIM:617802
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Aganglionic megacolon, Sprengel anomaly, Short nose... ORPHA:894
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Distal Deletion 9P
Wide nasal bridge, High, narrow palate, Brachydactyly, Short nose, Cleft palate, Enlarged thorax ORPHA:1642
Mucopolysaccharidosis Type 4
Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... ORPHA:582
Intellectual Developmental Disorder, Autosomal Dominant 1
Macroglossia, Depressed nasal ridge, Sandal gap, Retrognathia, Short thorax, Short nose, Bulbous ... OMIM:156200
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Retrognathia, Anteverted nares, Limi... ORPHA:363659
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Anteverted nares, Short nose, Tapered finger OMIM:619854
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Thoracic hypoplasia, Short proximal phala... OMIM:616638
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Microretrognathia, Bulbous nose, Overlapping toe, Short nose, Pectus excavatum... OMIM:618571
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Malar flattening, Short sternum,... OMIM:222448
Cohen Syndrome
High, narrow palate, Hypoplasia of the maxilla, Finger syndactyly, Sandal gap, Aplasia/Hypoplasia... ORPHA:193
Kyphomelic Dysplasia
Depressed nasal bridge, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Pterygium, Dumbbel... OMIM:211350
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic anus, Sprengel anomaly, Ab... ORPHA:2345
Meier-Gorlin Syndrome 4
Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Micrognathia, Patellar aplasia, La... OMIM:613804
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Depressed nasal bridge, Mandibular prognathia, Short nose, Small epiphyses, Genu valgum, Limited ... OMIM:271510
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Barrel-shaped chest, Multicentric ossi... OMIM:223800
Dysosteosclerosis
Short diaphyses, Narrow chest, Broad femoral neck, Natal tooth, Flared metaphysis, Delayed erupti... OMIM:224300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad nasal tip, Short ... OMIM:239300
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Abnormality of the calcaneus, Anteverted nares, Micrognathia, Median cl... ORPHA:40366
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Micrognathia, Triphalan... ORPHA:3078
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Metaphyseal dysplasia, Craniosynostosis, Short nose OMIM:614732
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Sandal gap, Retrognathia, Abnormal dent... ORPHA:1812
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture OMIM:118650
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Toe syndactyly, Anteverted nare... ORPHA:819
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Hamartoma of to... OMIM:616300
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal hip bone morphology, Micrognathia, Abnormal rib morphology, Abnormali... ORPHA:1486
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxil... OMIM:608156
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Lissencephaly, Joint contracture of the hand, Delayed eruption of teeth, Pachy... OMIM:247200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowin... ORPHA:3035
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Delayed crania... ORPHA:794
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Mi... ORPHA:364577
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... OMIM:101800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Clinodactyly, Short nose, Syndactyly OMIM:618087
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femora... OMIM:616723
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Pterygium Colli, Isolated
Short nose OMIM:177990
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Sagittal cranio... OMIM:123500
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Neonatal death, Radial head subluxation,... OMIM:146510
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Polymicrogyria, Bulbous nose, Prominent... OMIM:609460
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, Slender metacarp... OMIM:620601
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Micrognathia, Multiple pterygi... OMIM:312150
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Cerebrofaciothoracic Dysplasia
Narrow chest, Rib fusion, Sprengel anomaly, Bifid ribs, Short nose, Cleft palate, Wide nose ORPHA:1394
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, High palate, Short nose, Pro... ORPHA:314655
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... OMIM:186500
Toluene Embryopathy
Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Tapered finger ORPHA:1920
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Broad thumb, Enlarged thorax, Micrognathia, Prominent nasal bridge, Broad hall... ORPHA:251071
Pfeiffer Syndrome Type 3
Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depressed nasal brid... ORPHA:93260
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Mandibular prognathia, Depressed nas... OMIM:616007
Cerebrofacioarticular Syndrome
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Caudal appendage, Anteriorly placed ... ORPHA:314679
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Broad clavicle... OMIM:269500
Tarp Syndrome
Wide nasal bridge, Meckel diverticulum, Clinodactyly, Anteverted nares, Micrognathia, Glossoptosi... OMIM:311900
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi... OMIM:613803
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Depressed na... OMIM:129400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Lissencephaly, Congenital hip dislocation, Carious teeth, Broad nasal tip, Polymicrogyria, Anteve... ORPHA:357074
Myhre Syndrome
Bifid uvula, Hypoplasia of the maxilla, Mandibular prognathia, Abnormal epiphysis morphology, Cra... ORPHA:2588
Acromesomelic Dysplasia 1
Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epi... OMIM:602875
5Q14.3 Microdeletion Syndrome
Anteverted nares, Toe syndactyly, Short nose ORPHA:228384
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Narrow nasal bridge, Mi... ORPHA:1225
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Malar flattening, Long finger... ORPHA:357001
Ear-Patella-Short Stature Syndrome
High, narrow palate, Aplastic clavicle, Bifid uvula, Hypoplasia of the maxilla, Abnormal epiphysi... ORPHA:2554
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Microretrognathia, Camptodactyly of finger, Bulbous nose, Anteverted nares, Absen... ORPHA:261211
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Malar flattening, Arachnodactyly, Short nose OMIM:616420
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Depressed nasal bridge, Narrow chest, Radial bo... OMIM:151210
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
Andersen-Tawil Syndrome
Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Bulbous nose, Persistence of primary te... ORPHA:37553
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed closure of the anterior fontanel... OMIM:244460
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Hamartoma of tongue, Horizo... OMIM:617925
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Malar flattening, Conca... OMIM:613038
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia, Brac... ORPHA:1358
Frontorhiny
Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Hypoplastic frontal sinu... ORPHA:391474
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose OMIM:170100
Radio-Renal Syndrome
High, narrow palate, Depressed nasal bridge, Retrognathia, Micrognathia, Hypoplasia of the radius... ORPHA:3015
Coffin-Lowry Syndrome
Thick nasal septum, High palate, Rectal prolapse, Short nose, Wide nose, Short metacarpal, Pectus... OMIM:303600
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Genu valgum, Horizontal inferior border of scapula, Metaphyseal dysplasia, ... ORPHA:239
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Wide nasal bridge, Femoral bowing, Micrognathia, Bowing of the long bones, Wormian bones OMIM:617952
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Bowel diverticulosis, Recurrent sinusitis, Osteoarthritis, Hyperextensibility ... OMIM:130000
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Underdeveloped nasal alae, 3-4 toe syndactyly, Narrow nose, Narrow n... OMIM:164200
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Broad ribs, Brach... OMIM:277600
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Micrognathia, Multiple pterygi... OMIM:253290
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Overlapping toe, Cutan... OMIM:613026
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Depressed nasal bridge, Narrow chest, Thoracic hypoplasia, Lateral clavicle hoo... OMIM:617895
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Metaphyseal sclerosis, Genu valgum, Delayed pubic bone ossification, ... ORPHA:2976
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Short nose, Dimp... ORPHA:1791
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly... ORPHA:306542
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Bowing of the long bo... ORPHA:2050
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel, Short nose ORPHA:2143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Eruption failure, Partial absence of thumb, Micrognathia, 2-3 toe synd... ORPHA:476126
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Mandibular prognathia, Hypoplasia of the maxilla OMIM:601499
Warburg Micro Syndrome 3
Polymicrogyria, Micrognathia, Ankle clonus, Clinodactyly of the 5th finger, Narrow palate, Short ... OMIM:614222
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Sandal gap, Underdeveloped nasa... OMIM:616835
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short hard pala... OMIM:180700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Slender finger, Small hand, Broad thumb, Dental malocclusion, Broad hallux, Abnormal hip bone mor... ORPHA:251028
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Short nose OMIM:616459
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Craniofacial hyperostosis, Abnormal hip bone morphology, Prominent nasal bridge... ORPHA:3068
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Recurrent upper respiratory tract infections, Carious teeth, Pectus carin... OMIM:253000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Slender long bone, Malar flattening, Long nose, High palate, Pectus excav... OMIM:618590
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... OMIM:166210
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th... ORPHA:2879
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Broad hallux, Aganglionic megacolon, Anal atre... OMIM:614749
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, High palate, Retrognathia ORPHA:456328
Au-Kline Syndrome
Bifid uvula, Bifid nasal tip, Dental malocclusion, Retrognathia, Underdeveloped nasal alae, Short... OMIM:616580
Lethal Congenital Contracture Syndrome 10
Narrow palate, Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Micrognathia, Thora... OMIM:617022
Cat-Eye Syndrome
Anal atresia, Hip dysplasia, Abnormal rib morphology ORPHA:195
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Prominent nasal bridge, Hypoplasia of the ulna, Hypopl... ORPHA:96097
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynostosis, Toe syn... OMIM:101400
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Abnormal nasopharynx morphology, Long clavicles, Short nose... OMIM:269150
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Underdeveloped nasal al... OMIM:615485
Plaa-Associated Neurodevelopmental Disorder
Pectus carinatum, Abnormal cortical gyration, Postaxial foot polydactyly, Micrognathia, Long fing... ORPHA:521426
Microlissencephaly-Micromelia Syndrome
Lissencephaly, 11 pairs of ribs, Adducted thumb, Short nose ORPHA:50810
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Micro Syndrome
Wide nasal bridge, Lissencephaly, Anteverted nares, Micrognathia, Pachygyria, High palate, Short ... ORPHA:2510
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Fibrous syngnathia, Micr... ORPHA:1300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Finger clinodactyly, Malar flattening, Pectus excavatum of inferior stern... OMIM:601353
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis imperfecta, Micr... OMIM:616294
Trisomy 1Q
Depressed nasal bridge, Toe syndactyly, Microretrognathia, Short thorax, Camptodactyly of finger,... ORPHA:261344
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Depressed nasal ridge, Triphalangeal thumb, Short nose, Cleft palate ORPHA:1912
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Short nose ORPHA:99688
Tetrasomy 18P
Abnormality of neuronal migration, Short nose ORPHA:3307
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Short nose OMIM:611936
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Slender long bone, Micrognathia, Tibial bowing, Wormian bon... OMIM:259420
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti... OMIM:225500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... ORPHA:95699
Stickler Syndrome
Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Hip dislocation, Short nose, Protru... ORPHA:828
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Tapered finger, High palate, Low hang... OMIM:615803
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Short nose OMIM:300887
Split Lower Lip
Narrow maxilla OMIM:183400
Mosaic Trisomy 8
Narrow chest, Broad nasal tip, Camptodactyly of finger, Anteverted nares, Micrognathia, Patellar ... ORPHA:96061
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Prominent nose, Micrognathia, Narrow nasal... ORPHA:363528
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Metatarsus valgus, Abnormality... ORPHA:261236
Diamond-Blackfan Anemia 8
Wide nasal bridge, Short nose OMIM:612563
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Coronal craniosynostosis, Aplasia/Hypo... ORPHA:2095
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Short nose OMIM:620292
Cowden Syndrome 5
Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Pectus excavatum, ... OMIM:615108
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis... ORPHA:536467
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Taurodontia, Short sternum, Hi... OMIM:157980
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Abnormal cortical gyration, Micrognathia, Postaxial polydactyly, Long fingers, ... OMIM:617527
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Micrognathia, Prominent nasal bridge, Down-sloping shoulders... ORPHA:1974
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Retrognathia, High palate, Hip dislocation, Short nose OMIM:618005
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Anteverted nares, Short nose, Syndac... OMIM:616430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Depressed nasal bridge, Anteverted nares, Ankle clonus, Hypoplasia o... OMIM:615398
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Bulbous nose, Anteverted nares, Micrognathia, Abnorma... ORPHA:46059
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:1915
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, An... ORPHA:1507
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Slender long bone, Anteverted nares, Cubitus valgus, Short nose ORPHA:1185
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Hip dysplasia, Finger joint hypermobility, Metacarpophalangeal joint contrac... ORPHA:544503
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Finger syndactyly, Short thorax, Camptodactyly of finger, Anteverted nare... ORPHA:2311
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short nose, Short thorax ORPHA:2983
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Micrognathia, Hypoplasia of the maxilla, Enterocolitis OMIM:301108
Orofaciodigital Syndrome Type 3
Bifid uvula, Postaxial foot polydactyly, Hamartoma of tongue, Bulbous nose, Thoracic kyphosis, Sh... ORPHA:2752
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Advanced eruption of teeth, Broad columella, Short nose OMIM:617865
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Retrognathia, Thoracic hypoplasia, Overlapping toe, Anteverted nares, Lon... ORPHA:254528
Omodysplasia 1
Axillary pterygium, Wide nasal bridge, Depressed nasal bridge, Popliteal pterygium, Short tibia, ... OMIM:258315
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia o... ORPHA:90154
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Short sternum, Short no... OMIM:257300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bowing, Ho... OMIM:613091
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Micrognathia, Prominent nasal bridge, Pachygyria, High palate... OMIM:300749
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Cli... ORPHA:2399
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Bulbous nose, Clinodactyly of the 5th finger, Short nose, Tap... OMIM:618430
Weill-Marchesani Syndrome 2
Narrow palate, Hypoplasia of the maxilla, Broad phalanges of the hand, Depressed nasal bridge, Sh... OMIM:608328
Barber-Say Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Velopharyngeal insuffi... OMIM:209885
Cowden Syndrome 6
Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Pectus excavatum, ... OMIM:615109
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent nasal bridge, Protruding tongue, Pachygyria, Short nose, Simplified ... OMIM:619179
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Micrognathia, Bowing ... ORPHA:536471
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, High palate, Retrognathia, Neonatal death OMIM:300219
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Anteriorly placed anus, Abnormal rib morphology ORPHA:280195
Acrocallosal Syndrome