Gene Summary

Name:
collagen, type XI, alpha 2
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating triglyceride level Col11a2tm1b(KOMP)Wtsi HET Early adult 2.56×10-07
increased circulating bilirubin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.52×10-07
decreased mean corpuscular volume Col11a2tm1b(KOMP)Wtsi HET Early adult 3.64×10-06
increased startle reflex Col11a2tm1b(KOMP)Wtsi HET Early adult 6.25×10-06
increased circulating unsaturated transferrin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.69×10-05
decreased cardiac output Col11a2tm1b(KOMP)Wtsi HET Early adult 2.78×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Col11a2 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.

The table below shows human diseases predicted to be associated to Col11a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inade... OMIM:613673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Short Stature, Brussels Type
Microretrognathia, Growth delay, Abnormal facial shape, Triangular face, Short stature, Delayed e... ORPHA:2867
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Flat face, Short foot, Wide nasal bridge, Short metacarpal, B... OMIM:614078
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Chromosome 3Pter-P25 Deletion Syndrome
Anteverted nares, Prominent metopic ridge, Postaxial polydactyly, Postnatal growth retardation, W... OMIM:613792
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Chromosome 15Q26-Qter Deletion Syndrome
Short middle phalanx of finger, Wide nasal bridge, Low-set ears, Triangular face, Short stature, ... OMIM:612626
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Hypoplasia of the maxilla, Flat face, Ulnar deviation of the... ORPHA:1529
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Triangular face, Abnormality of the metacarpal bon... ORPHA:2496
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Round face, Short nose, Growth delay, Pneumonia, Low-set ears, Retrognathia, Anteverted nares, Ch... OMIM:614069
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Decreased motor nerve conduction velocity, Short nose, Macrotia, Postnatal growth r... OMIM:615419
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Granddad Syndrome
Underdeveloped nasal alae, Triangular face, Prominent nasal septum, Protruding ear, Intrauterine ... OMIM:138920
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Growth delay, Triangular face, Abnormality of femoral epiphysis, Sensorineural hearing impairment... OMIM:601351
Steel Syndrome
Dislocated radial head, Sensorineural hearing impairment, Short stature, Wide nasal bridge OMIM:615155
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Bulbous nose, Thick nasal alae, Triangular face, Coarse facial features, Prominent nose ORPHA:293707
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Polydactyly, Abnormal facial shape, Wide nasal bridge, Low-set ears, Triangular fac... OMIM:301022
Arthrogryposis, Distal, Type 2B1
Camptodactyly of finger, Rocker bottom foot, Prominent nasolabial fold, Absent phalangeal crease,... OMIM:601680
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Triangular face, Hearing impairment, EEG abnormality, Short st... ORPHA:1713
Craniofacial-Deafness-Hand Syndrome
Flat face, Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla OMIM:122880
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Abnormality of the outer ear, Sandal gap, Clinodactyly of the 5th fin... ORPHA:217340
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Round face, Short nose, Anteverted nares, Low-set, poster... ORPHA:1716
Kbg Syndrome
Round face, Underdeveloped nasal alae, Macrotia, Finger clinodactyly, Persistent open anterior fo... ORPHA:2332
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Short stature, Micrognathia, Anteverted nares ORPHA:2015
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed closure of the anterior fontanelle, Polydactyly, Postnatal growth retardation, Triangular... ORPHA:231140
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose, Flat face, Growth delay, Camptodactyly, Low-set ears, Posteriorly rotat... OMIM:613604
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Silver-Russell Syndrome 3
Finger clinodactyly, Triangular face, Low-set ears, Syndactyly, Short stature, Retrognathia OMIM:616489
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Triangular face, Ulnar deviation of the wrist... OMIM:618435
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Myopathy, Congenital, Progressive, With Scoliosis
Triangular face, Low-set ears, Posteriorly rotated ears, Hearing impairment, Depressed nasal ridg... OMIM:618578
Distal 17P13.1 Microdeletion Syndrome
EEG with spike-wave complexes, Abnormal facial shape, Limitation of knee mobility, Triangular fac... ORPHA:319171
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Micrognathia, Microtia, Triangular face ORPHA:939
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Macrotia, Low-set, posteriorly rotated ears, Mandibular progna... ORPHA:1110
Fountain Syndrome
Broad distal phalanx of finger, Sensorineural hearing impairment, Short stature, Coarse facial fe... OMIM:229120
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation, Short stature ORPHA:2380
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Mulchandani-Bhoj-Conlin Syndrome
2-3 toe syndactyly, Severe short stature, Triangular face, Posteriorly rotated ears, Clinodactyly... OMIM:617352
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Round face, Short phalanx of finger, Conductive hearing impairment, Flat face, Epiph... OMIM:132450
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Posteriorly rotated ears, Low-set ears, Delayed cranial suture cl... ORPHA:1832
Chromosome 10Q26 Deletion Syndrome
Convex nasal ridge, Limited elbow extension, Craniosynostosis, Toe syndactyly, Postnatal growth r... OMIM:609625
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Conductive hearing impairment, Flat face, Polydactyly, Low-set ears, Hypoplastic isch... OMIM:616910
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Natal tooth, Short 1st metacarpal, Abnormality o... OMIM:201050
Leukodystrophy, Hypomyelinating, 10
Short nose, Bulbous nose, Abnormal facial shape, Triangular face, Low-set ears, Hearing impairmen... OMIM:616420
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Postnatal growth retardation, Triangular face, Sandal gap, Sp... ORPHA:96148
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Abnormal facial shape, Triangular face, Protruding ear, Long face, EEG abnormality, Short stature... ORPHA:85329
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Disproportionate short-limb short stature, Wide anterior font... OMIM:259420
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Abnormal facial shape, Clinodactyly, Small hand, Short foot, Short 5t... OMIM:300577
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Congenital hip dislocat... ORPHA:1458
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Large earlobe, ... OMIM:155050
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Triangular face, Facial asymmet... ORPHA:1131
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Short metatarsal, Bulbous nose, Macrotia, Shortening of all phalanges of... ORPHA:77258
Short Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Macrotia, Enlarged epiphyses, Wide nasal br... OMIM:269880
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Adenylosuccinate Lyase Deficiency
Short nose, Abnormal facial shape, Low-set ears, Anteverted nares, Prominent metopic ridge ORPHA:46
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Round face, Bulbous nose, Short nose, Macrotia, Mandibular prognathia, Camptodactyly, Wide nasal ... ORPHA:369891
Chromosome 16P13.3 Duplication Syndrome
Short nose, Bulbous nose, Short phalanx of finger, Camptodactyly, Low-set ears, Protruding ear, L... OMIM:613458
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Congenital hip dislocation, Bulbous nose, Bowing of the long bones, Triangula... OMIM:612940
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Meier-Gorlin Syndrome 5
Small earlobe, Hypoplasia of the capital femoral epiphysis, Elbow dislocation, Triangular face, L... OMIM:613805
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Triangular face, Postnatal growth retardation, Facial asy... ORPHA:231144
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Three M Syndrome 1
Short 5th finger, Hypoplastic pelvis, Growth delay, Mandibular prognathia, Postnatal growth retar... OMIM:273750
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Low-set, posteriorly rotated ears, Abnormality of the metacarpal bones... ORPHA:2370
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Congenital finger flexion contractures, Macrotia, Triangular face, Optic atrophy, Arachnodactyly,... ORPHA:1154
Peroxisome Biogenesis Disorder 13A (Zellweger)
Delayed closure of the anterior fontanelle, Abnormal facial shape, Triangular face, Micrognathia,... OMIM:614887
Short Stature Syndrome, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Short stature, Triangular face OMIM:601350
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Short metatarsal, Bulbous nose, Short phalanx of finger, Triangular face, Clin... OMIM:170390
Three M Syndrome 2
Prominent calcaneus, Delayed eruption of teeth, Short 5th finger, Severe short stature, Prominent... OMIM:612921
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration ORPHA:713
Al Kaissi Syndrome
Abnormality of the pinna, Postnatal growth retardation, Wide nasal bridge, Low-set ears, Posterio... OMIM:617694
Three M Syndrome 3
Hip dysplasia, Prominent calcaneus, Growth delay, Prominent nasal tip, Triangular face, Slender l... OMIM:614205
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Short distal phalanx of finger, Hearing impairment, Sh... OMIM:302950
20Q11.2 Microduplication Syndrome
Limited elbow extension, Short nose, Prominent metopic ridge, Low-set, posteriorly rotated ears, ... ORPHA:363659
Silver-Russell Syndrome 5
Intrauterine growth retardation, Birth length less than 3rd percentile, Triangular face OMIM:618908
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Postnatal growth retardation, Triangular face, Low-set ears, Delayed cranial sutur... OMIM:616603
Acromicric Dysplasia
Round face, Abnormality of femur morphology, Short nose, Bulbous nose, Abnormality of epiphysis m... ORPHA:969
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Growth delay, Abnormal facial shape, Short stature, Depressed nasal bridge ORPHA:438178
Metaphyseal Acroscyphodysplasia
Short toe, Abnormality of femur morphology, Flat face, Bowing of the long bones, Cone-shaped epip... ORPHA:1240
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Camptodactyly, Triangular face, Short stature, Hallux valgus OMIM:618436
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Growth delay, Abnormality of the pinna, Triangular face, Low-set ears, Optic atrophy,... OMIM:613457
Kbg Syndrome
Round face, Underdeveloped nasal alae, Macrotia, Triangular face, Vertebral fusion, Radial deviat... OMIM:148050
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Enlarged naris, Anteverted nares, Micrognathia, Low-set, posteriorly rotated ears, Abnormal facia... ORPHA:371364
Mulibrey Nanism
Enamel hypoplasia, Growth delay, Hypoplastic frontal sinuses, Wide nasal bridge, Triangular face,... OMIM:253250
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Abnormality of epiphysis morphology, Metacarpal osteolysis, Wide nasal b... ORPHA:2774
Stickler Syndrome, Type Iv
Genu valgum, Flat face, Sensorineural hearing impairment, Epiphyseal dysplasia, Short stature, Ir... OMIM:614134
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Rocker bottom foot, Bulbous nose, C... ORPHA:2616
Silver-Russell Syndrome 2
Delayed closure of the anterior fontanelle, 2-3 toe syndactyly, Triangular face, Clinodactyly of ... OMIM:618905
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Abnormality of finger, Abnormality of epiphysis morphology, Thick... ORPHA:3051
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Craniosynostosis, Bulbous nose, Short nose, Rhizomelia, Growth delay, Sev... OMIM:614114
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Rhizomelia, Mandibular prognathia, Flat face, Sh... ORPHA:2831
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Sensorineural hearing impairment, Short nose, Narrow nasal bridge OMIM:618379
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Autosomal Recessive Stickler Syndrome
Genu valgum, Abnormality of epiphysis morphology, Flat face, Sensorineural hearing impairment, Sh... ORPHA:250984
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Wide nasal bridge, Facial asymmetry, Delayed pubert... ORPHA:1825
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Low-set, posteriorly rotated ears, Flat face, Bowing of the long bones, Sa... ORPHA:2725
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Sp... ORPHA:90037
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Short distal phalanx of finger, Hallux valgus, Depressed... ORPHA:1327
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Cutaneous syndactyly, Overlapping toe, Abnormal facial shape, Wide nasal bri... OMIM:618316
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Short stature, Triangular face ORPHA:29
Potocki-Lupski Syndrome
Mandibular prognathia, Prominent nasal tip, Triangular face, Hearing impairment, EEG abnormality,... OMIM:610883
Facial Paresis, Hereditary Congenital, 3
Short nose, Low-set ears, Posteriorly rotated ears, Sensorineural hearing impairment, Facial pals... OMIM:614744
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Short nose, Conductive hearing impairment, Short distal phalanx of finger, Brachydac... OMIM:616331
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Growth delay, Protruding ear, Short stature, Recurrent pneum... ORPHA:1495
Partington Syndrome
Camptodactyly, EEG abnormality, Triangular face OMIM:309510
Osteogenesis Imperfecta, Type V
Wormian bones, Anterior radial head dislocation, Triangular face, Short stature, Dentinogenesis i... OMIM:610967
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Triangular face, Facial asymmetry, Short stature, Prominent fingert... ORPHA:231137
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Dislocated radial head, Triangular face, Protruding ear, Short stature, Arachnodac... OMIM:614856
Legius Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Triangular face OMIM:611431
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Macrotia, Abnormal facial shape, Postaxial polydactyly, Triangular face, Long face ORPHA:544254
Ring Chromosome 8 Syndrome
Round ear, Short nose, Anteverted nares, Deviation of finger ORPHA:1450
Silver-Russell Syndrome 4
Birth length less than 3rd percentile, Triangular face OMIM:618907
Russell-Silver Syndrome, X-Linked
Intrauterine growth retardation, Triangular face OMIM:312780
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Nicolaides-Baraitser Syndrome
Wide nasal base, Short metatarsal, Short phalanx of finger, Growth delay, Triangular face, Sandal... OMIM:601358
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Rhizomelia, Flat face, Severe short stature, Sensorineural hearing impairme... OMIM:215100
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Flat face, Growth delay, Camptodactyly, Abnormal facial shape, Hearing impairment, Syndactyly, Pu... OMIM:616006
Arthrogryposis, Distal, Type 5
Limited wrist extension, Absent phalangeal crease, Congenital finger flexion contractures, Triang... OMIM:108145
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Cone-shaped epiphysis, Abnormal facial shape, Sensorineural hearing im... ORPHA:71267
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Sandal gap,... OMIM:311300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Bulbous nose, Triangular face, Low-set ears, Posteriorly rotated ears, Tapered finger, Intrauteri... OMIM:616801
Xq12-Q13.3 Duplication Syndrome
Recurrent upper respiratory tract infections, Hypsarrhythmia, 2-3 toe syndactyly, Triangular face... ORPHA:314389
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flat face, Bowing of the long bones, Wide nasal bridge, Posteriorly rotated ears, Short long bone... OMIM:224410
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Round face, Short nose, Short stature, Depressed nasal ridge, Anteverted nares ORPHA:1355
Nabais Sa-De Vries Syndrome, Type 2
Bulbous nose, Triangular face, Low-set ears, Posteriorly rotated ears, Clinodactyly of the 5th fi... OMIM:618829
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad thumb, Bulbous nose, Macrotia, Overfolded helix, Abnormal facial shape, Triangular face, Lo... ORPHA:481152
Acrocephalopolydactyly
Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Brachydactyly, Microtia ORPHA:221054
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Otofacioosseous-Gonadal Syndrome
Short hallux, Wormian bones, Genu valgum, Underdeveloped nasal alae, Flat face, Low-set ears, Pos... OMIM:601976
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Disproportionate short stature, Short metatarsal, Hypoplastic pelvis, Mandibular prognathia, Grow... OMIM:614813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face ORPHA:231147
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Low-set, posteriorly rotated ears, Short stature, Micrognathia, D... ORPHA:1695
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Short stature, ... OMIM:109120
Keutel Syndrome
Underdeveloped nasal alae, Recurrent otitis media, Recurrent sinusitis, Tracheal atresia, Short d... ORPHA:85202
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Proportionate short stature, Camptodactyly, Down-sloping shoulders, Dental malocclusi... OMIM:227330
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Laryngotracheomalacia, Aplasia/hypoplasia involving bones of the extremities, Dela... ORPHA:93346
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Wide nasal bridge, Low-set ears, Short stature, Anteverted nares, Depressed nasal bridge OMIM:616430
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Larsen-Like Syndrome
Absent nasal bridge, Wide anterior fontanel, Conductive hearing impairment, Flat face, Recurrent ... OMIM:608545
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Short nose, Elbow dislocation, Rhizomelia, Abnormali... ORPHA:93329
Intellectual Developmental Disorder, Autosomal Dominant 59
Mild short stature, Flat face, Abnormal facial shape, Low-set ears, Protruding ear, Short foot, B... OMIM:618522
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Round face, Bulbous nose, Macrotia, Triangular face, Low-set ears, Clinodactyly, Depressed nasal ... OMIM:616789
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Acrodysostosis
Epiphyseal stippling, Short metatarsal, Mandibular prognathia, Abnormality of the metacarpal bone... ORPHA:950
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Abruzzo-Erickson Syndrome
Short toe, Toe syndactyly, Radioulnar synostosis, Macrotia, Conductive hearing impairment, Flat f... ORPHA:921
Insulin-Like Growth Factor I, Resistance To
Abnormal facial shape, Wide nasal bridge, Low-set ears, Triangular face, Sandal gap, Clinodactyly... OMIM:270450
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Mandibular prognathia, Camptodactyly, Postnatal growth retardation, Ab... OMIM:193700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Macrotia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly, Micrognathia, Tapered finger OMIM:617061
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Triangular face, Abnormality of femoral epiphysis, Hearing impairment, Short stature, Brachydactyly ORPHA:3218
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Large earlobe, Absent tragus, Overfolded... ORPHA:79113
Stickler Syndrome Type 1
Abnormality of vertebral epiphysis morphology, Short nose, Abnormality of epiphysis morphology, S... ORPHA:90653
Hennekam-Beemer Syndrome
Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Pneumonia, Wide nasal bridg... ORPHA:2135
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Short nose, Macrotia, Low-set, posteriorly rotated ears, Abnormality of the elbow,... ORPHA:2701
Global Developmental Delay With Speech And Behavioral Abnormalities
Hearing impairment, Recurrent otitis media, Micrognathia, Triangular face OMIM:619243
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Flat face, Sensorineural hearing ... ORPHA:35173
15q26 overgrowth syndrome
Craniosynostosis, Bulbous nose, Mandibular prognathia, Triangular face, Sensorineural hearing imp... DECIPHER:81
Intellectual Developmental Disorder With Neuropsychiatric Features
Triangular face, Depressed nasal bridge OMIM:617532
Short Syndrome
Abnormal dental enamel morphology, Short palm, Severe short stature, Wide nasal bridge, Triangula... ORPHA:3163
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Bulbous nose, Absent nasal bridge, Short nose, Microretr... ORPHA:261211
Ruijs-Aalfs Syndrome
Bulbous nose, Down-sloping shoulders, Triangular face, Clinodactyly, Short stature, Prominent nas... OMIM:616200
Pierpont Syndrome
Short toe, Short nose, Short finger, Short palm, Short foot, Posteriorly rotated ears, Hearing im... OMIM:602342
Otodental Dysplasia
Pulp calcification, Taurodontia, Long face, Sensorineural hearing impairment, Anteverted nares OMIM:166750
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Triangular face, Low-set ears, Clinodactyly of the 5th... ORPHA:397590
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Bulbous nose, Postnatal growth retardation, Hearing impairment, Short stature, Broad n... OMIM:612947
Alazami Syndrome
Postnatal growth retardation, Triangular face, Low-set ears, Slender long bone, Wide nose ORPHA:319671
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Short nose, Toe syndactyly, Growt... OMIM:206920
Ravine Syndrome
Abnormality of the larynx, Abnormal auditory evoked potentials ORPHA:99852
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... ORPHA:2145
Polyendocrine-Polyneuropathy Syndrome
Short stature, Progressive hearing impairment, Postnatal growth retardation OMIM:616113
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Short nose, Low-set, posteriorly rotated ears, Toe clinodactyly, Micrognathia, De... ORPHA:261120
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Decreased motor nerve conduction velocity, Decreased sensory nerve c... OMIM:218000
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... OMIM:251450
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Congenital hip dislocation, Recurrent upper respiratory tract infections, Short finge... OMIM:300209
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Round face, Short nose, Hypoplasia of teeth, Proportionate short stature, Macrotia, Down-sloping ... ORPHA:391408
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Meier-Gorlin Syndrome 3
Micrognathia, Microretrognathia, Slender long bone, Tracheomalacia, Laryngomalacia, Low-set ears,... OMIM:613803
Intellectual Developmental Disorder, X-Linked 30
Flat face, Anteverted nares, Short nose, Macrotia OMIM:300558
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Bulbous nose, Low-set, posteriorly rotated ears, Growth dela... ORPHA:261311
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthritis, Anteverted nares,... OMIM:184840
Cebalid Syndrome
Short nose, Flat face, Abnormality of the pinna, Low-set ears, Posteriorly rotated ears, Hearing ... OMIM:618774
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Abnormality of the pinna, Low-set ears, Clinodactyly... OMIM:301026
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Postnatal growth retardation, Low-set ears, Metaphyseal dysplasia, Intrauterine growt... OMIM:614732
3Q27.3 Microdeletion Syndrome
Small earlobe, Slender nose, Convex nasal ridge, Mandibular prognathia, Triangular face, Low-set ... ORPHA:397695
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Bulbous nose, Chronic otitis media, Abnormal facial shape, Postnatal growth retardation, Low-set ... ORPHA:480907
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Abnormal thumb morphology, Abnormality of femur morphology, Abnormali... ORPHA:1842
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Short nose, Choanal atresia, Short distal phalanx of finger, Hearing impair... ORPHA:1914
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Flat face, Short columella, Mandibular prognathia, Abnorma... ORPHA:1248
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Optic nerve hypoplasia, Triangular face ORPHA:65288
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Flat face, Bowing of the long bones, Facial asym... ORPHA:2097
Al-Raqad Syndrome
Short nose, Flat face, Sandal gap, Low-set ears, Brachydactyly OMIM:616459
Kniest Dysplasia
Enlarged joints, Round face, Hypoplastic pelvis, Conductive hearing impairment, Recurrent otitis ... OMIM:156550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Popov-Chang syndrome
Recurrent otitis media, Abnormal facial shape, Triangular face, Clinodactyly of the 5th finger, S... OMIM:618428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Squared iliac bones, Round face, Short nose, Metaphyseal cupping, Low-set ears, Hy... OMIM:613320
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Conductive hearing impairment, Short 1st metacarpal, Triangular face, A... OMIM:609053
Relapsing Fever
Increased total bilirubin, Hypotension, Leukocytosis, Elevated circulating creatinine concentrati... ORPHA:91547
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Oval face, Short nose, Macrotia, Abnormal facial shape, Postnatal growth retardation, Wide nasal ... OMIM:300749
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Flat face, Growth delay, Camptodactyly, Abnormality of the pinna, Wide nasal bridge, ... OMIM:617333
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Postnatal growth retardation, Triangular face, Brachydactyly, Short long bone,... OMIM:619184
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cree Mental Retardation Syndrome
Rocker bottom foot, Triangular face, Low-set ears, Posteriorly rotated ears, Cutaneous finger syn... OMIM:606851
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Flat face, Low-se... ORPHA:2655
Chung-Jansen Syndrome
Round face, Short nose, Macrotia, Clinodactyly, Tapered finger, Micrognathia, Anteverted nares OMIM:617991
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... OMIM:255980
Ohdo Syndrome
Short nose, Hypoplasia of teeth, Wide nasal bridge, Clinodactyly of the 5th finger, Hearing impai... OMIM:249620
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ears,... ORPHA:2994
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Polycythemia, Unconjugated hyperbilirubinemia, Hyp... OMIM:613280
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Triangular face, Large face, Anteverted nares, Depressed nasal bridge OMIM:614883
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Rocker bottom foot, Profound hearing impairment, Short nose, Congenital hip ... ORPHA:3078
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Short nose, Low-set ears, Clinodactyly of the 5th finger, Wide nose ORPHA:217385
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Abnormal facial shape, Sandal gap, Posteriorly rotated ears, Short stature, Optic dis... OMIM:300887
Wiedemann-Steiner Syndrome
Depressed nasal tip, Short phalanx of finger, Flat face, Growth delay, Short middle phalanx of fi... OMIM:605130
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Flat face, Epiphyseal stippling, Wide nasal bridge OMIM:614859
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Postnatal growth retardation, Triangular face, Low-set ears, S... ORPHA:813
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Contractures of the interphalangeal joint of ... ORPHA:1927
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Short nose, Camptodactyly, Wide nasal bridge, Low-set ears, Posteriorly rotated ears... OMIM:618529
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Chronic otitis media, Triangular face, Hearing impairment, Protruding ear, Long fa... ORPHA:261250
Perlman Syndrome
Thickened helices, Round face, Short nose, Wide nasal bridge, Low-set ears, Posteriorly rotated e... ORPHA:2849
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Enlarged joints, Flat face, Bowing of the legs, Short stature, Dispropor... ORPHA:156728
Paganini-Miozzo Syndrome
Low-set ears, Mandibular prognathia, Microtia, Triangular face OMIM:301025
Cole-Carpenter Syndrome 2
Wormian bones, Lambdoidal craniosynostosis, Microretrognathia, Narrow iliac wing, Postnatal growt... OMIM:616294
Short Stature, Microcephaly, And Endocrine Dysfunction
Convex nasal ridge, Triangular face, Clinodactyly, Sensorineural hearing impairment, Long face, S... OMIM:616541
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Round face, Sensorineural hearing impairment, Postnatal growth r... OMIM:617093
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Anteverted nares, Overfolded helix, Finger syndactyly, Down-sloping shoulders, Triang... ORPHA:1974
Infantile Sialic Acid Storage Disease
Splenomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Vacuolated lymphocytes OMIM:269920
Distal Monosomy 7Q36
Bulbous nose, Macrotia, Flat face, Symphalangism affecting the phalanges of the hand, Clinodactyl... ORPHA:1636
Distal Monosomy 3P
Postaxial hand polydactyly, Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, ... ORPHA:1620
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Elbow flexion contractu... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Short nose, Overlapping toe, Narrow pelvis bone, Abnormal facial shape, Short m... OMIM:616723
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Silver-Russell Syndrome 1
Craniofacial disproportion, Short distal phalanx of the 5th finger, Short middle phalanx of the 5... OMIM:180860
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Short nose, Radioulnar synostosis, Short columella, Bowing of t... ORPHA:171839
Feingold Syndrome 1
4-5 toe syndactyly, Depressed nasal tip, 2-3 toe syndactyly, Wide nasal bridge, Low-set ears, Pos... OMIM:164280
Coffin-Siris Syndrome 9
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Growth delay, Abnormality of... OMIM:615866
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Wide anterior fontanel, Growth delay, Postnatal growth retardation,... OMIM:614541
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Short nose, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hal... ORPHA:93258
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Oculocerebrodental Syndrome
Enamel hypoplasia, Short 5th finger, Conductive hearing impairment, Thick nasal alae, Abnormal fa... ORPHA:557003
Intellectual Developmental Disorder, X-Linked 98
Round face, Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Hypsarrhythmia, Gr... OMIM:300912
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Short 5th finger, Postnatal growth retardation, Triangular face, Triangular ... ORPHA:73230
Partington Syndrome
EEG abnormality, Triangular face ORPHA:94083
Acrodysostosis 2 With Or Without Hormone Resistance
Round face, Short metatarsal, Short nose, Mild short stature, Short phalanx of finger, Mandibular... OMIM:614613
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Abnormality of the ear, Triangular face OMIM:225060
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Concave nasal ridge, Abnormal facial shape, Postnatal growth retardati... ORPHA:73272
Microcephaly-Capillary Malformation Syndrome
Short nose, Short distal phalanx of finger, Low-set ears, Hearing impairment, Clinodactyly, Short... OMIM:614261
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Hypopla... ORPHA:163966
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Flat face, Abnormality of the pinna, Postnatal growth retardation, Low-set ears, Hear... OMIM:612394
Cutis Laxa, Autosomal Recessive, Type Iid
Bulbous nose, Macrotia, Camptodactyly, Wide nasal bridge, Low-set ears, Triangular face, Protrudi... OMIM:617403
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal bones, Bulbous... OMIM:215150
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Tolchin-Le Caignec Syndrome
Vestibular dysfunction, Macrotia, Wide nasal bridge, Low-set ears, Triangular face, Clinodactyly ... OMIM:618971
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Os... OMIM:618618
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Square pelvis bone, Bowing of the long bones, Cone-shaped ... ORPHA:166272
Brooks-Wisniewski-Brown syndrome
Bulbous nose, Triangular face, Low-set ears, Cupped ear, Posteriorly rotated ears, Protruding ear... OMIM:300612
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia, Autoimmune hemolytic anemia ORPHA:90036
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Microretrognathia, Aganglionic megacolon, Abnormality of the pinna, Wide nasal bridge... OMIM:613603
Hand And Foot Deformity With Flat Facies
Flat face, Contractures of the interphalangeal joint of the thumb, Metacarpophalangeal joint cont... OMIM:139750
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses of the phal... OMIM:250215
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Weiss-Kruszka Syndrome
Short nose, Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of he... OMIM:618619
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Ankle clonus, Absent brainstem auditory responses, Sensorineural hearing ... ORPHA:52368
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Bulbous nose, Mandibular prognathia, 2-3 toe syndactyly, Postnatal growth retardation, Low-set ea... ORPHA:2324
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Flat face, Abnormal facial shape, Laryngomalacia, Sensorineural hearing ... ORPHA:464288
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic ilia... OMIM:300863
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Abnormality of the elbow, Slender long bones with narrow diaphyses, Triangul... ORPHA:536471
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontanel, Mesomelic/rhizomel... ORPHA:2347
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Short nose, Underdeveloped nasal alae, Macrotia, Overfolded helix, Growt... ORPHA:2083
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Growth delay, Wide nasal brid... OMIM:614886
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Preaxial hand polydactyly, Broad thumb, Flat face, Mandibular prognathia, Abnor... OMIM:101120
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Laryngotracheomalacia, Accessory c... ORPHA:503
Dermotrichic Syndrome
Short nose, Proportionate short stature, Macrotia, Aganglionic megacolon, EEG abnormality, Depres... ORPHA:99688
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Short nose, Underdeveloped nasal alae, Macrotia, Overlapping toe, Growth delay, Po... OMIM:613026
Achondrogenesis Type 1B
Disproportionate short stature, Short nose, Flat face, Severe short stature, Aplasia/Hypoplasia o... ORPHA:93298
Gms Syndrome
Short nose, Proportionate short stature, Short palm, Low-set ears, Small hand, Microtia, Depresse... OMIM:138770
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Short distal pha... ORPHA:2662
Marbach-Rustad Progeroid Syndrome
Convex nasal ridge, Wormian bones, Delayed eruption of primary teeth, Femur fracture, Growth dela... OMIM:619322
Thoracomelic Dysplasia
Genu valgum, Round face, Elbow dislocation, Flat face, Diaphyseal thickening, Abnormality of the ... ORPHA:1803
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Growth delay, Triangular face, Cupped ear, Narrow face, Protruding ear, Long face, Short stature ORPHA:93947
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Depressed nasal bridge, Wide ant... OMIM:228520
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Abnormality of the pinna, Low-set ears, Short stature, Broad nasal tip OMIM:613544
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Short palm, Choanal atresia, Narrow iliac wing, Short foot, Triangul... OMIM:300712
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Triangular face, ... ORPHA:1292
Leopard Syndrome 1
Cubitus valgus, Mandibular prognathia, Triangular face, Low-set ears, Posteriorly rotated ears, D... OMIM:151100
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Elbow dislocation, Proxim... ORPHA:3250
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Conductive hearing impairment, Flat face, Severe sho... ORPHA:2780
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Short nose, Conductive hearing impairment, Short 5th metacarpal, Sandal gap, Low-set e... OMIM:617877
Microcephaly-Deafness-Intellectual Disability Syndrome
Facial asymmetry, Low-set ears, Cupped ear, Sensorineural hearing impairment, Protruding ear, Sho... ORPHA:2533
Kniest Dysplasia
Laryngotracheomalacia, Delayed epiphyseal ossification, Abnormal cartilage collagen, Depressed na... ORPHA:485
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Short stature, Prominent nasal bridge ORPHA:1200
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Upper limb undergrowth, Broad thumb, Micrognathia, Recurrent otitis... ORPHA:529962
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Contractures of the interphalangeal joint of the thumb, Bulbous nose, Short nose, Aganglionic meg... OMIM:613870
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Short nose, Radioulnar synostosis, Preaxial foot polydactyly, Low-set... ORPHA:1988
Mental Retardation, Autosomal Dominant 20
Low-set ears, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Wt Limb-Blood Syndrome
Radioulnar synostosis, Short phalanx of finger, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Growth delay, Wide nasal bridge, Severe sensorineural hearing ... ORPHA:500
Mental Retardation, Autosomal Dominant 1
Bulbous nose, Short nose, Abnormality of the pinna, Abnormality of the outer ear, Postnatal growt... OMIM:156200
Marshall Syndrome
Radial bowing, Small proximal tibial epiphyses, Short nose, Micrognathia, Wide tufts of distal ph... OMIM:154780
Cenani-Lenz Syndrome
Oligodactyly, Convex nasal ridge, Abnormal dental enamel morphology, Hypoplasia of the radius, To... ORPHA:3258
Miller-Dieker Syndrome
Short nose, Growth delay, EEG abnormality, Clinodactyly of the 5th finger, Anteverted nares ORPHA:531
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Interictal EEG abnormality, Short nose, Finger joint hypermobility, EEG with focal... ORPHA:544503
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Triangular face, Hearing impairment, Optic atrophy, Intrauterine growth retardation, Hip dislocat... OMIM:618651
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Short nose, Pleural effusion, Flat face, Adducted thumb, Wide nasal b... OMIM:616897
Campomelic Dysplasia
Micrognathia, Flat face, Hypoplastic inferior ilia, Bowing of the long bones, Tracheomalacia, Lar... ORPHA:140
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Baraitser-Winter Syndrome 1
Short nose, Overfolded helix, Duplication of phalanx of hallux, Postnatal growth retardation, Wid... OMIM:243310
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Short nose, Genu recurvatum, Low-set, posteriorly rotated ears, Slender long bone... ORPHA:1185
Achondrogenesis Type 1A
Short nose, Flat face, Severe short stature, Aplasia/Hypoplasia of the lungs, Short foot, Microgn... ORPHA:93299
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Congenital hip dislocation, Sho... ORPHA:457279
Transaldolase Deficiency
Wide anterior fontanel, Triangular face, Low-set ears, Intrauterine growth retardation, Depressed... OMIM:606003
Bruck Syndrome
Wormian bones, Bowing of the long bones, Triangular face, Pterygium, Short stature ORPHA:2771
Gaucher Disease, Perinatal Lethal
Short nose, Triangular face, Low-set ears, Intrauterine growth retardation, Retrognathia, Microgn... OMIM:608013
Peho-Like Syndrome
Retrognathia, Optic atrophy, Short nose, Hypsarrhythmia OMIM:617507
Distal Trisomy 5Q
Carious teeth, Craniosynostosis, Hypoplasia of the radius, Short nose, Macrotia, Flat face, Hypop... ORPHA:96097
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Proportionate short stature, Short distal phalanx o... ORPHA:79345
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper respiratory tract inf... ORPHA:391372
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Convex nasal ridge, Limited elbow extension, Bifid distal phalanx of toe, Underdev... OMIM:618419
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Short nose, Rhizomelia, Irregular iliac crest, Short s... ORPHA:168549
Lethal Congenital Contracture Syndrome 9
Adducted thumb, Triangular face, Low-set ears, Pulmonary hypoplasia, Intrauterine growth retardat... OMIM:616503
Trisomy 12P
Abnormality of the antihelix, Short nose, Flat face, Wide nasal bridge, Low-set ears, Clinodactyl... ORPHA:1699
Pituitary Hormone Deficiency, Combined, 1
Short nose, Delayed cranial suture closure, Short stature, Anteverted nares, Severe postnatal gro... OMIM:613038
Simosa Craniofacial Syndrome
Depressed nasal tip, Underdeveloped nasal alae, Flat face, Abnormality of the pinna, Wide nasal b... OMIM:182150
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Wide anterior fontanel, Flat face, Split hand, Sh... ORPHA:1860
Peroxisome Biogenesis Disorder 7A (Zellweger)
Posteriorly rotated ears, Flat face, Epiphyseal stippling, Low-set ears OMIM:614872
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Increased size of nasopharyngea... ORPHA:457395
Rhiny
Anteverted nares, Short nose OMIM:180360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Flat face, Pneumonia, Low-set ears, Short stature, Sinusitis, Microgn... OMIM:242860
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Short femur, Upper limb undergrowth, Laryngotracheomalacia, Aplasia/hypoplasia invol... ORPHA:94068
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Kyphomelic Dysplasia
Disproportionate short stature, Flat face, Bowing of the long bones, Flat acetabular roof, Abnorm... ORPHA:1801
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Postnatal growth retardation, Flat acetabular roof, Toe cli... OMIM:615777
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Trisomy 10P
Low voltage EEG, Abnormal hip joint morphology, Camptodactyly, Abnormal auditory evoked potential... ORPHA:171929
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Symphalangism affecting the phalanges of the hand, Micrognat... ORPHA:2547
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Bulbous nose, Short nose, Hearing impairment, Optic nerve hypoplasia, Clinodac... OMIM:618828
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Bulbous nose, Camptodactyly, Triangular face, Micrognathia, Depressed nasal bri... OMIM:309590
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Short nose, Microretrognathia, Low-set, post... ORPHA:3380
Chops Syndrome
Round face, Short nose, Laryngomalacia, Hearing impairment, Aspiration pneumonia, Short stature, ... OMIM:616368
Achondrogenesis
Short nose, Flat face, Severe short stature, Aplasia/Hypoplasia of the lungs, Micrognathia, Antev... ORPHA:932
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
2-3 toe syndactyly, Abnormal facial shape, Abnormality of the pinna, Sandal gap, Triangular face,... ORPHA:477817
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Disproportionate short stature, Broad toe, Delayed ossificatio... OMIM:609616
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Underdeveloped nasal alae, Macrotia, Micro... ORPHA:1968
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow internal auditory canal, Sens... ORPHA:794
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Abnormal facial shape, Postnatal growth retardation, Hearing impairment, Long toe, Slender finger... OMIM:613355
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Short nose, Wide nasal bridge, Broad nasal tip OMIM:614207
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Growth delay, Irregular epiphyses, Abnormal auditory evoked potentials, Sensorineural hearing imp... OMIM:619260
12Q14 Microdeletion Syndrome
Abnormality of the nares, Triangular face, Clinodactyly of the 5th finger, Short stature, Intraut... ORPHA:94063
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Flat face, Mandibular ... ORPHA:710
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Short stature, Spina bifida occulta, Micrognathia, Narrow nasal br... ORPHA:1514
Marshall Syndrome
Genu valgum, Short nose, Hypoplasia of the maxilla, Flat face, Hypoplastic frontal sinuses, Wide ... ORPHA:560
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Wide nasal bridge, Sensorineura... ORPHA:1522
Fetal Trimethadione Syndrome
Short nose, Overfolded helix, Low-set ears, Abnormality of the helix, Intrauterine growth retarda... ORPHA:1913
Partial Deletion Of The Short Arm Of Chromosome 7
Flexion contracture of thumb, Mild short stature, Aplasia of the distal phalanx of the 5th finger... ORPHA:261911
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta, Unilateral vestibular Schwannoma, Sensorineural heari... OMIM:603641
Distal Monosomy 15Q
Genu valgum, Finger clinodactyly, Growth delay, Short finger, Postnatal growth retardation, Trian... ORPHA:1596
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Short nose, Overfolded helix, Conductive hearing impairment, Atresia o... OMIM:610536
Subaortic Stenosis--Short Stature Syndrome
Short toe, Round face, Short nose, Short phalanx of finger, Broad toe, Flat face, Growth delay, W... OMIM:271960
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short nose, Low-set, posteriorly rotated ears, Severe sensorineural hearing impairme... ORPHA:2983
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Delayed closure of the anterior fontanelle, Abnormal facial shape, Severe intrauterine growth ret... ORPHA:96182
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Low-set ears, Slender finger, Ulnar deviation of finger, Micrognathi... ORPHA:1895
Autosomal Dominant Omodysplasia
Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Pat... ORPHA:93328
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Short nose, Hypoplastic pelvis, Rhizomelia, Flat face, Hypoplasia of th... OMIM:602613
Potocki-Shaffer Syndrome
Wormian bones, Short nose, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous syndactyly bet... OMIM:601224
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Tetrasomy 5P
Short hallux, Short nose, Wide anterior fontanel, Overlapping toe, Flat face, Postnatal growth re... ORPHA:3309
Marshall-Smith Syndrome
Craniosynostosis, Short nose, Conductive hearing impairment, Bowing of the long bones, Choanal at... ORPHA:561
Thanatophoric Dysplasia Type 2
Flat face, Hearing impairment, Aplasia/Hypoplasia of the lungs, Short stature, Abnormality of the... ORPHA:93274
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Abnormality of the ulna, Conductive hearing impairment, Low-set,... ORPHA:1307
Menke-Hennekam Syndrome 2
Cutaneous syndactyly of toes, Overlapping toe, Recurrent upper respiratory tract infections, Flat... OMIM:618333
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Multiple joint dislocation, Hip subluxation, Laryngotracheomalacia, Metaphyseal irregularity, Del... ORPHA:93360
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Small epiphyses, D... OMIM:611717
Floating-Harbor Syndrome
Carious teeth, Triangular face, Short clavicles, Short thumb, Broad fingertip, Hypoplasia of the ... ORPHA:2044
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Mandibular prognathia, Camptodactyly, Abnormal facial shape, Laryngomalacia, S... ORPHA:435938
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Convex nasal ridge, Abnormality of the pinna, Triangular face, Low-set ears,... OMIM:609069
Meier-Gorlin Syndrome 6
Hip dysplasia, Short nose, Underdeveloped nasal alae, Conductive hearing impairment, Microretrogn... OMIM:616835
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Hyperbilirubinemia, Steatorrhea, Calcinosis, Pal... OMIM:613471
Clark-Baraitser Syndrome
Short nose, Abnormal facial shape, Sandal gap, Clinodactyly, Depressed nasal bridge OMIM:617752
Noonan Syndrome
Thickened helices, Radioulnar synostosis, Low-set, posteriorly rotated ears, Triangular face, Cli... ORPHA:648
Orofaciodigital Syndrome Xv
Flat face, Postaxial polydactyly, Wide nasal bridge, Broad hallux, Anteverted nares OMIM:617127
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hip dysplasia, Bulbous nose, Choanal atresia, Abnormality of the pinna, Triangular face, Low-set ... OMIM:616975
Fetal Hydantoin Syndrome
Short nose, Low-set, posteriorly rotated ears, Abnormality of the pinna, Short distal phalanx of ... ORPHA:1912
Arboleda-Tham Syndrome
Small earlobe, Craniosynostosis, Mandibular prognathia, 3-4 finger cutaneous syndactyly, Triangul... OMIM:616268
Nizon-Isidor Syndrome
Bulbous nose, Anteverted nares, Triangular face, Long fingers, Prominent fingertip pads, Prominen... OMIM:618872
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly, Portal hypertension OMIM:251880
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Tarsal synostosis, C2-C3 subluxation, Sensorineural hearing impairment, Limite... OMIM:272460
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Hand polydactyly, Short nose, Taurodontia, Toe syndactyly, Con... ORPHA:819
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Broad nasal tip, Arachnodactyly, Prominent nasal bridge, Severe pos... OMIM:615485
Renpenning Syndrome 1
Bulbous nose, Macrotia, Mandibular prognathia, Camptodactyly, Wide nasal bridge, Triangular face,... OMIM:309500
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Abnormality of fibula mor... ORPHA:2557
Jaberi-Elahi Syndrome
Short nose, Abnormal facial shape, Low-set ears, Protruding ear, Optic atrophy, Depressed nasal b... OMIM:617988
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Abnormal metacarpal morphology ORPHA:166100
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Donnai-Barrow Syndrome
Wide anterior fontanel, Short nose, Posteriorly rotated ears, Sensorineural hearing impairment, D... ORPHA:2143
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Apert Syndrome
Convex nasal ridge, Delayed eruption of teeth, Broad thumb, Toe syndactyly, Finger syndactyly, Co... ORPHA:87
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Sensorineur... OMIM:144750
Combined Oxidative Phosphorylation Deficiency 26
Triangular face OMIM:616539
Baller-Gerold Syndrome
Short nose, Conductive hearing impairment, Growth delay, Bowing of the long bones, Aplasia/Hypopl... ORPHA:1225
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Triangular face, Coxa vara, Short stature, Dentinogenesis imperfecta OMIM:610968
Marfanoid-Progeroid-Lipodystrophy Syndrome
Narrow nasal ridge, Craniosynostosis, Hyperextensibility of the finger joints, Triangular face, L... OMIM:616914
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Depressed nasal ridge OMIM:613885
Peroxisome Biogenesis Disorder 3B
Flat face, Sensorineural hearing impairment, Abnormal facial shape, Depressed nasal ridge OMIM:266510
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Respiratory tract infection, Overlapping toe, Mandibular prognathia, Triangu... OMIM:618975
Premature Aging Syndrome, Penttinen Type
Wormian bones, Delayed eruption of teeth, Hypoplasia of the maxilla, Brachydactyly, Slender long ... OMIM:601812
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction