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 mean corpuscular volume Col11a2tm1b(KOMP)Wtsi HET Early adult 3.67×10-06
preweaning lethality, incomplete penetrance Col11a2tm1b(KOMP)Wtsi HOM   Early adult 0.00196
increased startle reflex Col11a2tm1b(KOMP)Wtsi HET Early adult 6.25×10-06
increased lean body mass Col11a2tm1b(KOMP)Wtsi HET Early adult 8.90×10-05
increased circulating unsaturated transferrin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.70×10-05
decreased circulating triglyceride level Col11a2tm1b(KOMP)Wtsi HET Early adult 2.37×10-07
decreased cardiac output Col11a2tm1b(KOMP)Wtsi HET Early adult 2.78×10-05
increased circulating bilirubin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.48×10-07

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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.

Electrocardiogram (ECG)

Waveform Image

22 Images

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
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Short Stature, Brussels Type
Triangular face, Growth delay, Short stature, Microretrognathia, Delayed epiphyseal ossification,... ORPHA:2867
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Flat face, Coronal craniosynostosis, Hearing impairment, Short metacarpal, Wide na... OMIM:614078
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Flat face, Narrow face, Sensorineural hearing impairment, Aplasia/Hypoplas... ORPHA:1529
Chromosome 3Pter-P25 Deletion Syndrome
Triangular face, Broad nasal tip, Anteverted nares, Low-set ears, Tapered finger, Wide nasal brid... OMIM:613792
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Chromosome 15Q26-Qter Deletion Syndrome
Triangular face, Brachydactyly, Intrauterine growth retardation, Low-set ears, Wide nasal bridge,... OMIM:612626
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Triangular face, Low-set ears, Slender nose, Micrognathia, Decreased motor nerve conduction veloc... OMIM:615419
Mesomelia-Synostoses Syndrome
Clinodactyly of the 5th finger, Micrognathia, Abnormality of the humerus, Genu valgum, Triangular... ORPHA:2496
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Triangular face, Sensorineural hearing impairment, Growth delay, Short stature, Abnormality of fe... OMIM:601351
Steel Syndrome
Dislocated radial head, Sensorineural hearing impairment, Short stature, Wide nasal bridge OMIM:615155
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Granddad Syndrome
Triangular face, Intrauterine growth retardation, Underdeveloped nasal alae, Protruding ear, Prom... OMIM:138920
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Triangular face, Bulbous nose, Thick nasal alae, Coarse facial features, Prominent nose ORPHA:293707
Mullegama-Klein-Martinez Syndrome
Triangular face, Low-set ears, Bulbous nose, Sensorineural hearing impairment, Clinodactyly of th... OMIM:301022
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Growth delay, Depressed nasal bridge, Round face, Retrognathia, Anteverted nares, S... OMIM:614069
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Toe syndactyly, Anteverted nares, Sandal gap, Clinodactyly of the 5... ORPHA:217340
Arthrogryposis, Distal, Type 2B1
Triangular face, Abnormality of the ear, Calcaneovalgus deformity, Rocker bottom foot, Wide nasal... OMIM:601680
Silver-Russell Syndrome 3
Triangular face, Low-set ears, Short stature, Retrognathia, Finger clinodactyly, Syndactyly OMIM:616489
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Short stature, Anteverted nares, Short nose ORPHA:2015
Distal Trisomy 18Q
Triangular face, Deviation of finger, Clinodactyly of the 5th finger, Carious teeth, Micrognathia... ORPHA:1716
Craniofacial-Deafness-Hand Syndrome
Flat face, Sensorineural hearing impairment, Hypoplasia of the maxilla, Short nose OMIM:122880
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, Intrauterine growth retardation, Low-set ears, Bulbous nose, Hearing... OMIM:613604
Kbg Syndrome
Triangular face, EEG abnormality, Underdeveloped nasal alae, Cutaneous syndactyly, Persistent ope... ORPHA:2332
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
17P11.2 Microduplication Syndrome
Triangular face, EEG abnormality, Micrognathia, Low-set, posteriorly rotated ears, Short stature,... ORPHA:1713
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Triangular face, Delayed closure of the anterior fontanelle, Clinodactyly of the 5th finger, Poly... ORPHA:231140
Arthrogryposis, Distal, Type 2B2
Triangular face, Clinodactyly, Brachydactyly, Sandal gap, Overlapping fingers, Tapered finger, Br... OMIM:618435
Myopathy, Congenital, Progressive, With Scoliosis
Triangular face, Low-set ears, Depressed nasal ridge, Micrognathia, Posteriorly rotated ears, Hea... OMIM:618578
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
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
Short Stature, Dauber-Argente Type
Triangular face, Delayed eruption of teeth, Long toe, Decreased fibular diameter, Arachnodactyly,... OMIM:619489
3-Hydroxyisobutyric Aciduria
Triangular face, Microtia, Intrauterine growth retardation, Micrognathia ORPHA:939
Distal 17P13.1 Microdeletion Syndrome
Triangular face, Limitation of knee mobility, EEG with spike-wave complexes, Arachnodactyly, Prom... ORPHA:319171
Legg-Calvé-Perthes Disease
Joint dislocation, Short stature, Cartilage destruction ORPHA:2380
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Depressed nasal ridge, Low-set ears, Micrognathia, Mandibular ap... ORPHA:1832
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Triangular face, Genu varum, Abnormal hip bone morphology, Intrauterine growth retardation, Cario... ORPHA:1110
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:616649
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Flat face, Conductive hearing impairment, Short phalanx of finger, Sho... OMIM:132450
Leukodystrophy, Hypomyelinating, 10
Triangular face, Low-set ears, Bulbous nose, Hearing impairment, Arachnodactyly, Abnormal facial ... OMIM:616420
Chromosome 10Q26 Deletion Syndrome
Triangular face, Clinodactyly, Toe syndactyly, Craniosynostosis, Low-set ears, Flared nostrils, S... OMIM:609625
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Mulchandani-Bhoj-Conlin Syndrome
Triangular face, Clinodactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Severe short ... OMIM:617352
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Adenylosuccinate Lyase Deficiency
Anteverted nares, Low-set ears, Prominent metopic ridge, Abnormal facial shape, Short nose ORPHA:46
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Craniosynostosis, Conductive hearing impairment, Sensorineural hear... OMIM:201050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Intrauterine growth retardation, Flat face, Low-set ears, Conductive hearing ... OMIM:616910
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Triangular face, Clinodactyly, EEG abnormality, Low-set ears, Bulbous nose, Hearing impairment, W... ORPHA:369891
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elliptocytosis... OMIM:109270
Mental Retardation, X-Linked 91
Clinodactyly, Short 5th finger, Cubitus valgus, Small hand, Abnormal facial shape, Short foot, Sh... OMIM:300577
Osteogenesis Imperfecta, Type Iii
Triangular face, Neonatal short-limb short stature, Wormian bones, Tibial bowing, Micrognathia, P... OMIM:259420
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short distal phalanx of finger, Depressed nasal bridge, Short columella, Dental ma... OMIM:155050
Distal Monosomy 10Q
Abnormality of the outer ear, Clinodactyly, Sandal gap, Clinodactyly of the 5th finger, Tapered f... ORPHA:96148
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Triangular face, Long nose, EEG abnormality, Short stature, Protruding ear, Long face, Abnormal f... ORPHA:85329
Silver-Russell Syndrome Due To 11P15 Microduplication
Triangular face, Intrauterine growth retardation, Clinodactyly of the 5th finger, Severe intraute... ORPHA:231144
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Delayed eruption of teeth, Flat face... ORPHA:1458
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Low-set ears, Tapered finger, Short phalanx of finger, Long fingers, Hip dislocatio... OMIM:613458
Short Syndrome
Triangular face, Clinodactyly, Intrauterine growth retardation, Underdeveloped nasal alae, Delaye... OMIM:269880
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Cli... ORPHA:2370
Cutis Laxa, Autosomal Recessive, Type Iib
Triangular face, Narrow nasal ridge, Bowing of the long bones, Intrauterine growth retardation, B... OMIM:612940
Trichorhinophalangeal Syndrome Type 1 And 3
Triangular face, Shortening of all phalanges of fingers, Bulbous nose, Short metacarpal, Clinodac... ORPHA:77258
Peroxisome Biogenesis Disorder 13A (Zellweger)
Triangular face, Delayed closure of the anterior fontanelle, Micrognathia, Abnormal nasal bridge ... OMIM:614887
Three M Syndrome 1
Triangular face, Slender long bone, Intrauterine growth retardation, Clinodactyly of the 5th fing... OMIM:273750
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Triangular face, Deviation of finger, Optic atrophy, Arachnodactyly, Macrotia, Congenital finger ... ORPHA:1154
Short Stature Syndrome, Brussels Type
Triangular face, Short stature, Microretrognathia, Delayed epiphyseal ossification OMIM:601350
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia, Increased total bilirubin OMIM:616299
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Hearing impairment, Epiphyseal stippling, Short distal phalanx of finger, Depressed nasa... OMIM:302950
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Iron deficiency anemi... OMIM:616278
X-Linked Mandibulofacial Dysostosis
Triangular face, Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, L... ORPHA:1131
Three M Syndrome 2
Triangular face, Clinodactyly, Anteverted nares, Intrauterine growth retardation, Delayed eruptio... OMIM:612921
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Fatty Acyl-Coa Reductase 1 Deficiency
Growth delay, Short stature, Depressed nasal bridge, Macrotia, Abnormal facial shape, Short nose ORPHA:438178
Silver-Russell Syndrome 5
Triangular face, Birth length less than 3rd percentile, Intrauterine growth retardation OMIM:618908
Acromicric Dysplasia
Brachydactyly, Short palm, Bulbous nose, Abnormality of epiphysis morphology, Severe short statur... ORPHA:969
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Cutis Laxa, Autosomal Dominant 3
Triangular face, Wormian bones, Intrauterine growth retardation, Low-set ears, Adducted thumb, De... OMIM:616603
Arthrogryposis, Distal, Type 2B3
Triangular face, Overlapping fingers, Short stature, Hallux valgus, Camptodactyly OMIM:618436
Stickler Syndrome, Type Iv
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Flat face, Sensorineural hea... OMIM:614134
20Q11.2 Microduplication Syndrome
Triangular face, Short palm, Flat face, Clinodactyly of the 5th finger, Microtia, Wide nasal brid... ORPHA:363659
Three M Syndrome 3
Triangular face, Prominent calcaneus, Clinodactyly of the 5th finger, Growth delay, Short stature... OMIM:614205
Chromosome 14Q11-Q22 Deletion Syndrome
Triangular face, Low-set ears, Growth delay, Micrognathia, Depressed nasal bridge, Wide nose, Opt... OMIM:613457
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Reticulocyt... OMIM:235700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Triangular face, EEG abnormality, Tapered distal phalanges of finger, Intrauterine growth retarda... ORPHA:371364
Potocki-Lupski Syndrome
Triangular face, EEG abnormality, Micrognathia, Short stature, Mandibular prognathia, Dental malo... OMIM:610883
Spherocytosis, Type 1
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:182900
Nicolaides-Baraitser Syndrome
Triangular face, Brachydactyly, Short palm, Abnormality of epiphysis morphology, Severe short sta... ORPHA:3051
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Large face, Flat face, Depressed nasal ridge, Rhizomelia, Deviation of finger, Sho... ORPHA:2831
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
3M Syndrome
Triangular face, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplasia of the ulna, Intrauterine... ORPHA:2616
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Hip dysplasia, Short nose, Narrow nasal bridge OMIM:618379
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Severe sensorineural hearing impai... ORPHA:363417
Kbg Syndrome
Triangular face, Clinodactyly, Underdeveloped nasal alae, Short stature, Vertebral fusion, Macrot... OMIM:148050
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Triangular face, Abnormality of epiphysis morphology, Carpal osteolysis, Metacarpal osteolysis, W... ORPHA:2774
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Delayed puberty, Sensorineural hearing impairment, ... ORPHA:1825
Al Kaissi Syndrome
Triangular face, Broad nasal tip, Clinodactyly, Intrauterine growth retardation, Low-set ears, Wi... OMIM:617694
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Autosomal Recessive Stickler Syndrome
Flat face, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Micrognathia, S... ORPHA:250984
Silver-Russell Syndrome 2
Triangular face, Intrauterine growth retardation, 2-3 toe syndactyly, Delayed closure of the ante... OMIM:618905
Meier-Gorlin Syndrome 5
Triangular face, Clinodactyly, Small earlobe, Low-set ears, Intrauterine growth retardation, Micr... OMIM:613805
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Multicentric Carpotarsal Osteolysis Syndrome
Triangular face, Metatarsal osteolysis, Carpal osteolysis, Bilateral elbow dislocations, Metacarp... OMIM:166300
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Hearing impairment, Cond... OMIM:616331
Facial Paresis, Hereditary Congenital, 3
Low-set ears, Sensorineural hearing impairment, Micrognathia, Depressed nasal bridge, Posteriorly... OMIM:614744
Hereditary Elliptocytosis
Reticulocytosis, Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:288
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Triangular face, Low-set ears, Cutaneous syndactyly, Long toe, Overlapping fingers, Wide nasal br... OMIM:618316
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Micrognathia, Mandibular prognathia, Short toe, Short nose, Brachydactyly,... ORPHA:439822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor ORPHA:713
Mosaic Variegated Aneuploidy Syndrome 2
Triangular face, Clinodactyly, Craniosynostosis, Intrauterine growth retardation, Low-set ears, B... OMIM:614114
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Disproportionate short stature, Mandibula... OMIM:619636
Camptodactyly Syndrome, Guadalajara Type 1
Narrow face, Abnormality of dental eruption, Mandibular prognathia, Hallux valgus, Short toe, Sho... ORPHA:1327
Nabais Sa-De Vries Syndrome, Type 2
Triangular face, Low-set ears, Bulbous nose, Clinodactyly of the 5th finger, Tapered finger, Micr... OMIM:618829
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th finger, Micrognathia, Small hand, Short mandibular rami, Triangular face,... OMIM:170390
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Round ear, Short nose ORPHA:1450
Partington Syndrome
Triangular face, Camptodactyly, EEG abnormality OMIM:309510
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Osteogenesis Imperfecta, Type V
Triangular face, Wormian bones, Abnormality of pelvic girdle bone morphology, Anterior radial hea... OMIM:610967
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Short stature, Anteverted nares, Short nose OMIM:616430
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Triangular face, Clinodactyly of the 5th finger, Narrow nose, Short stature, Postnatal growth ret... ORPHA:231137
Silver-Russell Syndrome 4
Triangular face, Birth length less than 3rd percentile OMIM:618907
Russell-Silver Syndrome, X-Linked
Triangular face, Intrauterine growth retardation OMIM:312780
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Short stature, Triangular face ORPHA:29
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Growth delay, Micrognathia, Short stature, Protruding ear, Campt... ORPHA:1495
Syngap1-Related Developmental And Epileptic Encephalopathy
Triangular face, Anteverted ears, Macrotia, Postaxial polydactyly, Long face, Abnormal facial shape ORPHA:544254
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammon... ORPHA:247598
Legius Syndrome
Low-set, posteriorly rotated ears, Triangular face, Micrognathia OMIM:611431
Mulibrey Nanism
Triangular face, Intrauterine growth retardation, Enamel hypoplasia, Thickened cortex of long bon... OMIM:253250
Nicolaides-Baraitser Syndrome
Triangular face, Wide nasal base, Brachydactyly, Intrauterine growth retardation, Short metacarpa... OMIM:601358
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Cone-shaped epiphysis, Short stature... ORPHA:71267
Osteogenesis Imperfecta, Type Xiii
Triangular face, Wormian bones, Dislocated radial head, Arachnodactyly, Short stature, Protruding... OMIM:614856
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short stature, Round face, Anteverted nares, Short nose ORPHA:1355
Arthrogryposis, Distal, Type 5
Triangular face, Clinodactyly, Limited wrist extension, Arachnodactyly, Short stature, Protruding... OMIM:108145
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Severe short stature, Sensorineural hearing impairment, Rhizomelia, Epiphyseal stippli... OMIM:215100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Triangular face, Intrauterine growth retardation, Bulbous nose, Low-set ears, Tapered finger, Pro... OMIM:616801
Xq12-Q13.3 Duplication Syndrome
Triangular face, Recurrent upper respiratory tract infections, 2-3 toe syndactyly, Hypsarrhythmia... ORPHA:314389
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Multiple impacted tee... OMIM:311300
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Triangular face, Low-set ears, Bulbous nose, Broad thumb, Broad hallux, Hypoplasia of the maxilla... ORPHA:481152
Non-Distal Trisomy 10Q
Convex nasal ridge, Micrognathia, Low-set, posteriorly rotated ears, Depressed nasal bridge, Shor... ORPHA:1695
Otospondylomegaepiphyseal Dysplasia
Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, Micrognathia, Disproporti... ORPHA:1427
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Reticulocytosis, Ne... OMIM:618892
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, T... ORPHA:90037
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Flat face, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hyp... OMIM:109120
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Broad nasal tip, Clinodactyly, Cone-shaped epiphysis, Mandibular prognathia, Small hand, Triangul... OMIM:614813
Acrocephalopolydactyly
Brachydactyly, Depressed nasal ridge, Microtia, Genu recurvatum, Short long bone, Short nose ORPHA:221054
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Triangular face, Clinodactyly of the 5th finger, Intrauterine growth retardation, Facial asymmetry ORPHA:231147
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Triangular face, Brachydactyly, Short stature, Abnormality of femoral epiphysis, Hearing impairment ORPHA:3218
Stickler Syndrome Type 1
Abnormality of epiphysis morphology, Sensorineural hearing impairment, Osteoarthritis, Hypoplasia... ORPHA:90653
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Otofacioosseous-Gonadal Syndrome
Carpal synostosis, Wormian bones, Underdeveloped nasal alae, Low-set ears, Flat face, Sensorineur... OMIM:601976
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Flat face, Microtia, Growth delay, Depressed nasal bridge, Camptodactyly, Abnormal facial shape, ... OMIM:616006
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Insulin-Like Growth Factor I, Resistance To
Triangular face, Clinodactyly, Intrauterine growth retardation, Low-set ears, Sandal gap, Wide na... OMIM:270450
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Mandibular prognathia, Short toe, Short nose, Bra... ORPHA:950
Faciodigitogenital Syndrome, Autosomal Recessive
Triangular face, Trismus, Hearing impairment, Clinodactyly of the 5th finger, Microtia, Metatarsu... OMIM:227330
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, E... ORPHA:90044
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Triangular face, Clinodactyly, Bulbous nose, Low-set ears, Depressed nasal bridge, Macrotia, Roun... OMIM:616789
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Ankle flexion contracture, Facial palsy, Absen... OMIM:617519
Autosomal Recessive Omodysplasia
Craniosynostosis, Pterygium, Low-set ears, Rhizomelia, Elbow dislocation, Micrognathia, Abnormali... ORPHA:93329
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Flat face, Wide nasal bridge, Micrognathia, Posteriorly rotated ears, S... OMIM:224410
Larsen-Like Syndrome
Absent nasal bridge, Recurrent otitis media, Bipartite calcaneus, Flat face, Low-set ears, Conduc... OMIM:608545
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:214900
Intellectual Developmental Disorder With Neuropsychiatric Features
Triangular face, Depressed nasal bridge OMIM:617532
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Flat face, Sensorineural hearing impairment, Conductive hearing im... ORPHA:921
16P11.2P12.2 Microdeletion Syndrome
Absent nasal bridge, Long nose, Toe syndactyly, Intrauterine growth retardation, Low-set ears, Bu... ORPHA:261211
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Intellectual Developmental Disorder, Autosomal Dominant 59
Brachydactyly, Short palm, Flat face, Low-set ears, Mild short stature, Protruding ear, Abnormal ... OMIM:618522
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Hearing impairment, Carious teeth, Low-set, posteriorly rotated ears, Short statur... ORPHA:2701
Ruijs-Aalfs Syndrome
Triangular face, Clinodactyly, Bulbous nose, Micrognathia, Down-sloping shoulders, Short stature,... OMIM:616200
Global Developmental Delay With Speech And Behavioral Abnormalities
Triangular face, Recurrent otitis media, Hearing impairment, Micrognathia OMIM:619243
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Mandibular prognathia, Hip dislocation, Short nose, Flat face, Joint d... OMIM:193700
Pierpont Syndrome
Broad nasal tip, Short palm, Hearing impairment, Short stature, Posteriorly rotated ears, Large f... OMIM:602342
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Broad nasal tip, Short palm, Bulbous nose, Short stature, Retrognathia, Short toe, Postnatal grow... OMIM:612947
15q26 overgrowth syndrome
Triangular face, Abnormality of toe, Brachydactyly, Craniosynostosis, Bulbous nose, Low-set ears,... DECIPHER:81
Silver-Russell Syndrome Due To A Point Mutation
Triangular face, Intrauterine growth retardation, Low-set ears, Clinodactyly of the 5th finger, S... ORPHA:397590
Alazami Syndrome
Triangular face, Slender long bone, Low-set ears, Postnatal growth retardation, Wide nose ORPHA:319671
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Short Syndrome
Triangular face, Brachydactyly, Short palm, Severe short stature, Sensorineural hearing impairmen... ORPHA:3163
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Intrauterine growth retardation, Hearing impairment, Epiphyseal stippling, Microti... ORPHA:1914
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Short stature, Postnatal growth retardation OMIM:616113
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Low-set ears, 4-5 metacarpal synostosis, Fibular hypoplasia, F... OMIM:206920
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Short 1... OMIM:251450
Hennekam-Beemer Syndrome
Triangular face, Long nose, Conductive hearing impairment, Clinodactyly of the 5th finger, Microt... ORPHA:2135
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Slender finger, Proportionate short stature, Intrauterine growth retardation, Delay... ORPHA:391408
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Micrognathia, Low-set, posteriorly rotated ears, Depressed nasa... ORPHA:261120
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Low-set ears, Depressed nasal bridge, Epiphyseal dysplasia, Meta... OMIM:614732
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Keutel Syndrome
Recurrent otitis media, Underdeveloped nasal alae, Recurrent sinusitis, Depressed nasal bridge, S... ORPHA:85202
Al-Raqad Syndrome
Brachydactyly, Flat face, Low-set ears, Sandal gap, Short nose OMIM:616459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Recurrent upper respiratory tract infections, Low-set ears, Radial deviation of fin... OMIM:300209
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Wormian bones, Low-set ears, Squared iliac bones, Microtia, Metaphyseal cuppi... OMIM:613320
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Broad nasal tip, Low-set ears, Bulbous nose, Prominent protruding coccyx, Micrognathia, Depressed... ORPHA:480907
Chopra-Amiel-Gordon Syndrome
Triangular face, EEG abnormality, Flared nostrils, Thick nasal alae, Short stature, Postnatal gro... OMIM:619504
20Q13.33 Microdeletion Syndrome
Triangular face, Abnormality of limb bone morphology, Bulbous nose, Prominent crus of helix, Narr... ORPHA:261311
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Sensorineural hearing impairment, Enlarged epiphyses, Anteverted nares,... OMIM:184840
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Decreased sensory nerve conduction velocit... OMIM:218000
Maxillonasal Dysplasia
Depressed nasal ridge, Flat face, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopla... ORPHA:1248
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Intrauterine growth retardation, Convex nasal... ORPHA:2145
3Q27.3 Microdeletion Syndrome
Triangular face, Small earlobe, Low-set ears, Slender nose, Convex nasal ridge, Arachnodactyly, M... ORPHA:397695
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Grant Syndrome
Bowing of the long bones, Large face, Wormian bones, Abnormality of pelvic girdle bone morphology... ORPHA:2097
Cebalid Syndrome
Low-set ears, Depressed nasal ridge, Hearing impairment, Flat face, Depressed nasal bridge, Poste... OMIM:618774
Intellectual Developmental Disorder, X-Linked 30
Flat face, Short stature, Prominent nasal bridge, Macrotia, Anteverted nares, Prominent fingertip... OMIM:300558
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
17P13.3 Microduplication Syndrome
Low-set ears, Clinodactyly of the 5th finger, Congenital hip dislocation, Wide nose, Short nose ORPHA:217385
Ohdo Syndrome
Clinodactyly of the 5th finger, Microtia, Wide nasal bridge, Micrognathia, Hypoplasia of teeth, S... OMIM:249620
Chung-Jansen Syndrome
Clinodactyly, Tapered finger, Micrognathia, Macrotia, Round face, Anteverted nares, Short nose OMIM:617991
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Conjugated hyperbilirubinemia, Fa... OMIM:269920
Otodental Dysplasia
Delayed eruption of teeth, Pulp calcification, Enamel hypoplasia, Sensorineural hearing impairmen... OMIM:166750
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Popov-Chang syndrome
Triangular face, Long nose, Recurrent otitis media, Clinodactyly of the 5th finger, Depressed nas... OMIM:618428
Spondylodysplastic Ehlers-Danlos Syndrome
Radial head subluxation, Optic nerve hypoplasia, Micrognathia, Patellar dislocation, Hallux valgu... ORPHA:536471
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Unconjugated hy... OMIM:613280
Bone Dysplasia, Lethal Holmgren Type
Hearing abnormality, Abnormal thumb morphology, Flat face, Depressed nasal ridge, Rhizomelia, Abn... ORPHA:1842
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Short stature, Optic disc pallor, Posteriorly rotated ears, Abnormal facial shape, Sh... OMIM:300887
Wiedemann-Steiner Syndrome
Flat face, Low-set ears, Clinodactyly of the 5th finger, Tapered finger, Wide nasal bridge, Growt... OMIM:605130
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Upper-limb metaphyseal irregularit... OMIM:618728
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Calcaneovalgus deformity, Severe postnatal growth r... ORPHA:3078
Peroxisome Biogenesis Disorder 11A (Zellweger)
Triangular face, Large face, Depressed nasal bridge, Wide anterior fontanel, Anteverted nares OMIM:614883
Kniest Dysplasia
Recurrent otitis media, Enlarged joints, Abnormal cartilage collagen, Conductive hearing impairme... OMIM:156550
Fanconi Anemia, Complementation Group I
Triangular face, Absent thumb, Intrauterine growth retardation, Conductive hearing impairment, Op... OMIM:609053
Peroxisome Biogenesis Disorder 3A (Zellweger)
Flat face, Epiphyseal stippling, Wide nasal bridge, Low-set ears OMIM:614859
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face, Optic nerve hypoplasia, Low-set ears ORPHA:65288
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Broad nasal tip, Clinodactyly, Low-set ears, Wide nasal bridge, Micrognathia, Shor... OMIM:618529
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Flat face, Triphalangeal thumb, Microtia, Low-set, posteriorly rotated ears, A... ORPHA:2994
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spherocytosis, Anemia, Restric... ORPHA:822
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of somatosenso... ORPHA:320401
Cree Mental Retardation Syndrome
Triangular face, Low-set ears, Rocker bottom foot, Micrognathia, Posteriorly rotated ears, Cutane... OMIM:606851
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Spondylometaphyseal Dysplasia, Pagnamenta Type
Triangular face, Wormian bones, Short 5th metacarpal, Rhizomelia, Short 4th metacarpal, Broad thu... OMIM:619638
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Triangular face, Long nose, Brachydactyly, Intrauterine growth retardation, Short palm, Enamel hy... OMIM:619184
Perlman Syndrome
Low-set ears, Wide nasal bridge, Micrognathia, Posteriorly rotated ears, Round face, Retrognathia... ORPHA:2849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Paganini-Miozzo Syndrome
Triangular face, Microtia, Low-set ears, Mandibular prognathia OMIM:301025
Silver-Russell Syndrome
Triangular face, Intrauterine growth retardation, Low-set ears, Sandal gap, Clinodactyly of the 5... ORPHA:813
Emery-Nelson Syndrome
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Flat face, Depre... ORPHA:1927
Cole-Carpenter Syndrome 2
Triangular face, Lambdoidal craniosynostosis, Wormian bones, Narrow iliac wing, Coronal craniosyn... OMIM:616294
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Intrauterine growth retardation, Flat face, Low-set ear... ORPHA:2655
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Enlarged joints, Flat face, Limited elbow extension, Short stature, Dispropor... ORPHA:156728
Meier-Gorlin Syndrome 3
Triangular face, Genu varum, Intrauterine growth retardation, Low-set ears, Patellar hypoplasia, ... OMIM:613803
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Depressed nasal ridge, Low-set ears, Rhizomelia, Short palm, Met... ORPHA:163966
Andersen-Tawil Syndrome
Triangular face, 2-3 toe syndactyly, Bulbous nose, Low-set ears, Persistence of primary teeth, Wi... ORPHA:37553
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Sensorineural hearing impairment, Intrauterine growth retardation, ... OMIM:617093
16Q24.3 Microdeletion Syndrome
Triangular face, Optic nerve hypoplasia, Micrognathia, Proximal placement of thumb, Chronic otiti... ORPHA:261250
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Low-set ears, Hearing impair... ORPHA:93258
Hepatoportal Sclerosis
Leukopenia, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Anemia, Hyperbilirubi... ORPHA:64743
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Low-set ears, Short femoral neck, Short metacarpal, Microtia, Proximal femoral ... OMIM:616723
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Depressed nasal ridge, Low-set ears, Rhizomelia, Metaphyseal cup... OMIM:300863
Short Stature, Microcephaly, And Endocrine Dysfunction
Triangular face, Long nose, Broad nasal tip, Clinodactyly, Intrauterine growth retardation, Senso... OMIM:616541
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Cone-shaped epiphysis, Mild sho... OMIM:614613
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Low-set ears, Sensorineural hearing impairment, Wide nasal bridge, Growth delay, M... OMIM:614541
Distal Monosomy 7Q36
Large face, Symphalangism affecting the phalanges of the hand, Flat face, Bulbous nose, Clinodact... ORPHA:1636
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Short d... OMIM:614261
Silver-Russell Syndrome 1
Triangular face, Intrauterine growth retardation, Craniofacial disproportion, Clinodactyly of the... OMIM:180860
Oculocerebrodental Syndrome
Clinodactyly, Broad columella, Enamel hypoplasia, Conductive hearing impairment, Sensorineural he... ORPHA:557003
Distal Monosomy 3P
Triangular face, Intrauterine growth retardation, Clinodactyly of the 5th finger, Abnormal vestib... ORPHA:1620
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Stuve-Wiedemann Syndrome 1
Micrognathia, Short tibia, Wide nasal base, Short nose, Bowing of the long bones, Metaphyseal rar... OMIM:601559
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Intrauterine growth retardation, Severe postnatal growth retardation, Delayed erupt... ORPHA:73272
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Autosomal Recessive Faciodigitogenital Syndrome
Triangular face, Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger, Micrognathia, ... ORPHA:1974
Feingold Syndrome 1
Triangular face, 4-5 toe syndactyly, 2-3 toe syndactyly, Low-set ears, Aplasia/Hypoplasia of the ... OMIM:164280
Weiss-Kruszka Syndrome
Horizontal crus of helix, Cupped ear, Low-set ears, Clinodactyly of the 5th finger, Microtia, Sho... OMIM:618619
Lethal Kniest-Like Dysplasia
Brachydactyly, Flat face, Low-set ears, Flared metaphysis, Mesomelic/rhizomelic limb shortening, ... ORPHA:2347
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Square pelvis bone, Short palm, ... ORPHA:166272
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Short palm, Low-set ears, Microtia, M... ORPHA:171839
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Triangular face, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Abnormality of the ear OMIM:225060
Partington Syndrome
Triangular face, EEG abnormality ORPHA:94083
Tolchin-Le Caignec Syndrome
Triangular face, Vestibular dysfunction, Low-set ears, Sensorineural hearing impairment, Clinodac... OMIM:618971
Brooks-Wisniewski-Brown syndrome
Triangular face, Cupped ear, EEG abnormality, Severe postnatal growth retardation, Low-set ears, ... OMIM:300612
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
High-frequency sensorineural hearing impairment, Bulbous nose, Low-set ears, 2-3 toe syndactyly, ... ORPHA:2324
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Intrauterine growth retardation, Underdeveloped nasal alae, Growth delay, Microgna... ORPHA:2083
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose, Low-set ears OMIM:613443
Gms Syndrome
Short palm, Low-set ears, Microtia, Depressed nasal bridge, Small hand, Proportionate short statu... OMIM:138770
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Intrauterine growth retardation, Flat face, Low-set ears, Hearing impairment, Hypoplasia of the c... OMIM:612394
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Short palm, Bulbous nose, Short long bone, Short metac... OMIM:215150
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular face, Slender long bone, Triangular shaped distal phalanges of the hand, Short 5th fin... ORPHA:73230
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Low-set ears, Micrognathia OMIM:617802
Cutis Laxa, Autosomal Recessive, Type Iid
Triangular face, Bulbous nose, Low-set ears, Wide nasal bridge, Macrotia, Retrognathia, Protrudin... OMIM:617403
Keipert Syndrome
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the dista... ORPHA:2662
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Short toe, Metaphyseal wideni... OMIM:250215
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Osteoarthritis, Small hand, Delayed epiphyseal ossification... OMIM:618618
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Hyperbi... ORPHA:79303
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Partial Deletion Of The Short Arm Of Chromosome 7
Triangular face, Broad toe, Flexion contracture of thumb, Clinodactyly of the 5th finger, Mild sh... ORPHA:261911
Peroxisome Biogenesis Disorder 12A (Zellweger)
Triangular face, Delayed closure of the anterior fontanelle, Wide nasal bridge, Growth delay, Sho... OMIM:614886
Marshall-Smith Syndrome
Clinodactyly of the 5th finger, Retrognathia, Bullet-shaped middle phalanges of the hand, Hallux ... OMIM:602535
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Hand And Foot Deformity With Flat Facies
Short stature, Metacarpophalangeal joint contracture, Contractures of the interphalangeal joint o... OMIM:139750
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with generalized slow activity, EEG with focal epileptiform discharges, Finger joint hypermob... ORPHA:544503
Chromosome 19Q13.11 Deletion Syndrome, Distal
Intrauterine growth retardation, Low-set ears, Underdeveloped nasal alae, Clinodactyly of the 5th... OMIM:613026
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Bulbous nose, Tapered finger, Aganglionic megacolon, Abnormal autonomic nervous syste... OMIM:613870
Dermotrichic Syndrome
EEG abnormality, Aganglionic megacolon, Depressed nasal bridge, Macrotia, Proportionate short sta... ORPHA:99688
Burn-Mckeown Syndrome
Wide nasal bridge, Short stature, Bilateral choanal atresia, Prominent nasal bridge, Short nose ORPHA:1200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Anteverted nares, Patellar hypoplasia, Flat face, Depressed nasal ridge, Sensorine... ORPHA:464288
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Prelingual sensorineural ... ORPHA:52368
Marbach-Rustad Progeroid Syndrome
Triangular face, Wormian bones, Intrauterine growth retardation, Femur fracture, Convex nasal rid... OMIM:619322
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Triangular face, Low-set ears, Congenital hip dislocation, Contracture of the proximal interphala... ORPHA:457279
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, Short stature, EEG with centrotemporal focal spike ... OMIM:245570
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Low-set ears, Conductive hearing impairment, Sandal gap, Clinodactyly of th... OMIM:617877
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent otitis media, Abnormality of the ear, Recurrent upper respiratory trac... ORPHA:391372
Microcephaly-Deafness-Intellectual Disability Syndrome
Cupped ear, Low-set ears, Sensorineural hearing impairment, Micrognathia, Short stature, Protrudi... ORPHA:2533
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Dystonia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpu... OMIM:277410
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Flat face, Abnormality of fibula morphology, Diaphy... ORPHA:1803
Kniest Dysplasia
Enlarged epiphyses, Disproportionate short-trunk short stature, Disproportionate short stature, A... ORPHA:485
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Clinodactyly, EEG abnormality, Narrow nose, Tapered finger, Retrognathia, Small hand, Hip dysplas... OMIM:301044
Baraitser-Winter Syndrome 1
Low-set ears, Sensorineural hearing impairment, Wide nasal bridge, Duplication of phalanx of hall... OMIM:243310
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Aganglionic megacolon, Microtia, Wide nasal bridge, Microretrognathia, Short nose OMIM:613603
Larsen Syndrome
Brachydactyly, Craniosynostosis, Finger syndactyly, Flat face, Large joint dislocations, Abnormal... ORPHA:503
Peho-Like Syndrome
Retrognathia, Optic atrophy, Short nose, Hypsarrhythmia OMIM:617507
Marshall Syndrome
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Low-set ears, Ir... OMIM:154780
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Triangular face, Cupped ear, Narrow face, Growth delay, Short stature, Protruding ear, Long face ORPHA:93947
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial foot polydactyly, Short femu... ORPHA:1988
Noonan Syndrome 14
Triangular face, Clinodactyly, Prominent nasolabial fold, Low-set, posteriorly rotated ears, Limi... OMIM:619745
Intellectual Developmental Disorder, Autosomal Dominant 1
Abnormality of the outer ear, Cupped ear, Low-set ears, Bulbous nose, Sandal gap, Microtia, Micro... OMIM:156200
Proximal Symphalangism
Synostosis of carpal bones, Brachydactyly, Finger syndactyly, Sensorineural hearing impairment, C... ORPHA:3250
Fibrochondrogenesis 1
Fibular hypoplasia, Clinodactyly of the 5th finger, Widely patent coronal suture, Small hand, Bro... OMIM:228520
Miller-Dieker Syndrome
EEG abnormality, Clinodactyly of the 5th finger, Growth delay, Anteverted nares, Short nose ORPHA:531
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Flat face, Low-set ears, Severe short stature, Conductive hearing impa... ORPHA:2780
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Triangular face, Brachydactyly, Symphalangism affecting the phalanges of the hand, Intrauterine g... ORPHA:1292
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Low-set, posteriorly rotated ears, Short stature, Genu recurvatum, Cubitus val... ORPHA:1185
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Disproportio... ORPHA:457395
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Transaldolase Deficiency
Triangular face, Intrauterine growth retardation, Low-set ears, Depressed nasal bridge, Wide ante... OMIM:606003
Leopard Syndrome 1
Triangular face, Depressed nasal ridge, Low-set ears, Sensorineural hearing impairment, Short sta... OMIM:151100
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Tapered finger, Micrognathia, Short 1st metacarpal, Genu valgum, Pa... ORPHA:949
17Q24.2 Microdeletion Syndrome
Triangular face, Recurrent otitis media, Upper limb undergrowth, Microtia, Wide nasal bridge, Abn... ORPHA:529962
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Short stature, Depressed nasal bridge, Delayed cranial sutur... OMIM:613038
Halperin-Birk Syndrome
Triangular face, Intrauterine growth retardation, Hearing impairment, Micrognathia, Optic atrophy... OMIM:618651
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short stature, Short nose, Low-set ears OMIM:613544
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Craniosynostosis, Hypoplasia of the ulna, Flat face, Low-set ears, C... ORPHA:96097
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Growth delay, Abnormal auditory evoked pot... OMIM:619260
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Hearing im... ORPHA:3258
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Flat face, Low-set ears, Small face, Broad hallux, Hypoplasia of the maxilla, P... OMIM:101120
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Short palm, Low-set ears, Underdeveloped nasal alae, Flat face, Sensorineural hearing impairment,... OMIM:618419
Achondrogenesis Type 1B
Flat face, Severe short stature, Micrognathia, Disproportionate short stature, Anteverted nares, ... ORPHA:93298
Rhiny
Anteverted nares, Short nose OMIM:180360
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Long fingers, Postnatal growth retardation, Abnormal facial shape, Hear... OMIM:613355
Trisomy 12P
Flat face, Low-set ears, Clinodactyly of the 5th finger, Wide nasal bridge, Micrognathia, Short s... ORPHA:1699
Edinburgh Malformation Syndrome
Slender finger, Low-set ears, Micrognathia, Choanal atresia, Long fingers, Ulnar deviation of fin... ORPHA:1895
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Broad nasal tip, Clinodactyly, Tapered finger, Micrognathia, Small hand, Protruding ear, Short no... OMIM:309590
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Thromb... OMIM:251880
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Hearing impairment, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Depress... OMIM:618828
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Microtia, Micrognathia, Camptodactyly of finge... ORPHA:2547
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Bruck Syndrome
Triangular face, Bowing of the long bones, Wormian bones, Pterygium, Short stature ORPHA:2771
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Cockayne Syndrome B
Triangular face, Intrauterine growth retardation, Square pelvis bone, Severe short stature, Senso... OMIM:133540
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Hypotension... ORPHA:542323
Noonan Syndrome With Multiple Lentigines
Triangular face, Severe sensorineural hearing impairment, Intrauterine growth retardation, Sensor... ORPHA:500
Trisomy 10P
Micrognathia, Retrognathia, Short toe, Low voltage EEG, Short nose, Abnormality of the ear, Intra... ORPHA:171929
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Intrauterine growth retardation, Low-set ears, Flat face, Decreased fibular diamet... OMIM:616897
Hyperphosphatasia With Mental Retardation Syndrome 3
Broad nasal tip, Short nose, Wide nasal bridge, Hearing impairment OMIM:614207
Peroxisome Biogenesis Disorder 7A (Zellweger)
Flat face, Epiphyseal stippling, Posteriorly rotated ears, Low-set ears OMIM:614872
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Microtia, Low-set, posteriorly rotated ears, Spina bifid... ORPHA:2983
Gaucher Disease, Perinatal Lethal
Triangular face, Intrauterine growth retardation, Low-set ears, Microtia, Micrognathia, Depressed... OMIM:608013
Spondyloperipheral Dysplasia
Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat capital femor... OMIM:271700
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Hip dislocation,... OMIM:615777
Fetal Trimethadione Syndrome
Abnormal helix morphology, Low-set ears, Intrauterine growth retardation, Micrognathia, Depressed... ORPHA:1913
Subaortic Stenosis--Short Stature Syndrome
Broad toe, Short palm, Flat face, Low-set ears, Short phalanx of finger, Wide nasal bridge, Growt... OMIM:271960
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hyperbilirubinemia OMIM:214950
Craniofacioskeletal Syndrome
Triangular face, Narrow iliac wing, Brachydactyly, Intrauterine growth retardation, Short palm, C... OMIM:300712
Achondrogenesis Type 1A
Short palm, Flat face, Severe short stature, Micrognathia, Anteverted nares, Short foot, Short nose ORPHA:93299
Kyphomelic Dysplasia
Bowing of the long bones, Flat face, Micrognathia, Disproportionate short stature, Abnormality of... ORPHA:1801
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Lethal Congenital Contracture Syndrome 9
Triangular face, Intrauterine growth retardation, Low-set ears, Micrognathia, Adducted thumb, Dep... OMIM:616503
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Short greater sciatic notch, Flat face, Femoral bowing, ... ORPHA:1860
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Narrow nasal bridge, Short stature, Spina bifida occulta, Short ... ORPHA:1514
Saethre-Chotzen Syndrome
Prominent crus of helix, Clinodactyly of the 5th finger, Hallux valgus, Brachydactyly, Conductive... ORPHA:794
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Triangular face, 2-3 toe syndactyly, Sandal gap, Decreased nerve conduction velocity, Abnormal pi... ORPHA:477817
Potocki-Shaffer Syndrome
Brachydactyly, Wormian bones, 2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide na... OMIM:601224
Trisomy 18
Triangular face, Abnormal hip bone morphology, Intrauterine growth retardation, Deviation of fing... ORPHA:3380
12Q14 Microdeletion Syndrome
Triangular face, Intrauterine growth retardation, Clinodactyly of the 5th finger, Micrognathia, S... ORPHA:94063
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Low-set ears, Conductive hearing impairment, Atresia of the external auditory can... OMIM:610536
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1522
Menke-Hennekam Syndrome 2
Absent earlobe, Recurrent upper respiratory tract infections, Square face, Flat face, Sandal gap,... OMIM:618333
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Flat face, Rhizomelia, Proximal humeral metaphyseal irregu... OMIM:602613
Tetrasomy 5P
Low-set ears, Flat face, Clinodactyly of the 5th finger, Short hallux, Wide nasal bridge, Microgn... ORPHA:3309
Pfeiffer Syndrome
Synostosis of carpal bones, Brachydactyly, Symphalangism affecting the phalanges of the hand, Fin... ORPHA:710
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Depressed nasal bridge, Patellar disloca... ORPHA:93328
Flat Face-Microstomia-Ear Anomaly Syndrome
Long nose, Underdeveloped nasal alae, Flat face, Wide nasal bridge, Micrognathia, Low-set, poster... ORPHA:1968
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Broad nasal tip, Hearing impairment, Sensorineural hearing impairment, Oval face, Optic nerve hyp... OMIM:300749
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Conductive hearing impairment, Choanal atresia, Retro... ORPHA:561
Marshall Syndrome
Flat face, Sensorineural hearing impairment, Wide nasal bridge, Osteoarthritis, Micrognathia, Hyp... ORPHA:560
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Disproportio... OMIM:272460
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Abnormality of the outer ear, Triangular face, Clinodactyly, Brachydactyly, Intrauterine growth r... ORPHA:96182
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Retr... OMIM:602588
Simosa Craniofacial Syndrome
Long nose, Low-set ears, Underdeveloped nasal alae, Flat face, Wide nasal bridge, Posteriorly rot... OMIM:182150
Clark-Baraitser Syndrome
Clinodactyly, Sandal gap, Depressed nasal bridge, Abnormal facial shape, Short nose OMIM:617752
Distal Monosomy 15Q
Triangular face, Broad nasal tip, Intrauterine growth retardation, Low-set ears, Growth delay, Mi... ORPHA:1596
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Hypoplastic iliac wing, Short toe, Brachydactyly, Short phalanx of finger, Microtia, Single inter... OMIM:611717
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Retrognathia OMIM:613670
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorin... ORPHA:1307
Fetal Hydantoin Syndrome
Hearing abnormality, Intrauterine growth retardation, Depressed nasal ridge, Triphalangeal thumb,... ORPHA:1912
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Low-set ears, Flat face, Fibular hypoplasia,... ORPHA:140
Meckel Syndrome, Type 8
Depressed nasal ridge, Low-set ears, Polydactyly, Postaxial hand polydactyly, Short nose OMIM:613885
Baker-Gordon Syndrome
EEG abnormality, Prominent nasal tip, Short nose OMIM:618218
Arboleda-Tham Syndrome
Broad nasal tip, Genu varum, Small earlobe, Hammertoe, Sandal gap, Mandibular prognathia, Deviati... OMIM:616268
Achondrogenesis
Flat face, Severe short stature, Micrognathia, Anteverted nares, Short nose ORPHA:932
Coffin-Siris Syndrome 9
Long nose, Clinodactyly, Anteverted nares, Intrauterine growth retardation, Low-set ears, Underde... OMIM:615866
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Flat face, Short femoral neck, Upper limb ... ORPHA:94068
Mietens Syndrome
Avascular necrosis of the capital femoral epiphysis, Coxa valga, Hypoplasia of the ulna, Severe s... ORPHA:2557
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Intrauterine growth retardation, Flat face, Wide nasal bridge, Growth delay, Short stature, Round... OMIM:617333
Smith-Magenis Syndrome
Brachydactyly, Large face, Toe syndactyly, EEG abnormality, Delayed puberty, Conductive hearing i... ORPHA:819
Orofaciodigital Syndrome Xv
Flat face, Wide nasal bridge, Broad hallux, Postaxial polydactyly, Anteverted nares OMIM:617127
Jaberi-Elahi Syndrome
Low-set ears, Depressed nasal bridge, Protruding ear, Abnormal facial shape, Optic atrophy, Short... OMIM:617988
Floating-Harbor Syndrome
Long nose, Broad nasal tip, Clinodactyly, Broad fingertip, Short thumb, Hip dysplasia, Triangular... ORPHA:2044
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Depressed nasal bridge, Posteriorly rotated ears, Wide anterior... ORPHA:2143
16P12.1P12.3 Triplication Syndrome
Large earlobe, Brachydactyly, Intrauterine growth retardation, Bulbous nose, Low-set ears, 2-3 to... ORPHA:485405
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Epiphyseal stippling of toe phalanges, Calcaneal epiphyseal stippling, Proportio... ORPHA:79345
Nizon-Isidor Syndrome
Triangular face, Bulbous nose, Depressed nasal bridge, Long fingers, Prominent nasal bridge, Ante... OMIM:618872
Marfanoid-Progeroid-Lipodystrophy Syndrome
Triangular face, Narrow nasal ridge, Craniosynostosis, Intrauterine growth retardation, Narrow no... OMIM:616914
Craniofaciofrontodigital Syndrome
Low-set ears, Depressed nasal bridge, Short stature, Cubitus valgus, Hypoplastic pelvis, Dental m... OMIM:114620
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Flat face, Microtia, Wide nasal bridge, Micrognathia, Posteriorly rotated... OMIM:602562
Harel-Yoon Syndrome
Micrognathia, Mandibular prognathia, Long face, Hip dysplasia, Optic atrophy, Short nose OMIM:617183
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Coarse facial features, Short nose, Mandibular prognathia ORPHA:2429
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Abnormal metacarpal morphology, Osteoarthritis, Micrognathia ORPHA:166100
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital knee dislocation, Flat face, Congenital hip dislocation, Mild short stature, Wide nasa... OMIM:601450
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Apert Syndrome
Toe syndactyly, Finger syndactyly, Delayed eruption of teeth, Flat face, Aplasia/Hypoplasia of th... ORPHA:87
Thanatophoric Dysplasia Type 2
Brachydactyly, Flat face, Depressed nasal bridge, Short stature, Abnormality of the metaphysis, H... ORPHA:93274
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Retinal hemorrhage, Hyper... ORPHA:464321
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the outer ear, Abnormal hip bone morphology, Narrow face, Clinodactyly of the 5th ... ORPHA:251028
Intellectual Disability-Strabismus Syndrome
Narrow nasal ridge, Recurrent otitis media, Intrauterine growth retardation, Low-set ears, Hearin... ORPHA:363528
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Intrahepatic Cholestasis Of Pregnancy