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
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 mean corpuscular volume Col11a2tm1b(KOMP)Wtsi HET Early adult 3.68×10-06
increased lean body mass Col11a2tm1b(KOMP)Wtsi HET Early adult 8.90×10-05
decreased cardiac output Col11a2tm1b(KOMP)Wtsi HET Early adult 2.78×10-05
preweaning lethality, incomplete penetrance Col11a2tm1b(KOMP)Wtsi HOM   Early adult 0.00196
increased circulating bilirubin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.51×10-07
increased startle reflex Col11a2tm1b(KOMP)Wtsi HET Early adult 6.25×10-06

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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
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Short Stature, Brussels Type
Triangular face, Delayed epiphyseal ossification, Abnormal facial shape, Growth delay, Short stat... ORPHA:2867
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Depressed nasal ridge, Na... ORPHA:1529
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Intrauterine growth retardation, Overlapping toe, EEG abnormality, Anteverted nares... OMIM:613792
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Chromosome 15Q26-Qter Deletion Syndrome
Triangular face, Low-set ears, Short stature, Micrognathia, Short middle phalanx of finger, Brach... OMIM:612626
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Triangular face, Thick nasal alae, Prominent nose, Coarse facial features, Bulbous nose ORPHA:293707
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Short nose, Postnatal growth retardation, Triangular face, Slender nose, Low-set e... OMIM:615419
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Hearing imp... ORPHA:2496
Alazami Syndrome
Triangular face, Wide nose, Low-set ears, Severe short stature, Wide nasal bridge, Depressed nasa... OMIM:615071
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Hypertrophic cardiomyo... OMIM:613673
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Triangular face, Mandibular prognathia, Absent phalangeal crease, Calcaneoval... OMIM:601680
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microg... ORPHA:217340
Kbg Syndrome
Triangular face, Anteverted nares, Bilateral conductive hearing impairment, Round face, Cutaneous... ORPHA:2332
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
17P11.2 Microduplication Syndrome
Triangular face, Low-set, posteriorly rotated ears, Hearing impairment, Short stature, Micrognath... ORPHA:1713
Weiss-Kruszka Syndrome
Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Prominent nasal tip, Low... ORPHA:502430
Distal Duplication 18Q
Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Triangular face, A... ORPHA:1716
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia ORPHA:2015
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Triangular face, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adduc... OMIM:618435
Congenital Myopathy 19
Triangular face, Low-set ears, Depressed nasal ridge, Hearing impairment, Micrognathia, Posterior... OMIM:618578
Cholestasis, Progressive Familial Intrahepatic, 12
Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Postnatal growth retardation, Triangular face, Clinodactyly of the 5th finger, Short... ORPHA:231140
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears, Prominent metopic ridge, Abnormal facial shape ORPHA:46
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Microtia, Micrognathia, Triangular face ORPHA:939
Distal 17P13.1 Microdeletion Syndrome
Limited elbow movement, Retrognathia, Triangular face, EEG with spike-wave complexes, Limitation ... ORPHA:319171
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Triangular face, Sensorineural hearing impairment, Anteverted nares, Low-set ears, ... OMIM:618342
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Short foot, Abnormal facial shape, Short 5th finger, Clinodactyly, Sm... OMIM:300577
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Triangular face, Delayed eruption of teeth, Decreased fibular diame... OMIM:619489
Legg-Calvé-Perthes Disease
Short stature, Cartilage destruction, Joint dislocation ORPHA:2380
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Long nose, Triangular face, Long face, Abnormal facial shape, Short stature, Protruding ear, EEG ... ORPHA:85329
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Triangular face, Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Mandibular prog... ORPHA:1110
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Recurrent otitis media, Long face, Anteverted nares, Low-set ears, Intrauterine growt... OMIM:613604
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Triangular face, Clinodactyly of the 5th finger, Severe intrauterin... ORPHA:231144
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Short nose, Triangular face, Mandibular prognathia, Round fac... ORPHA:369891
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Short nose, Recurrent otitis media, Low-set ears, Hypoplastic ischia, Conductive hea... OMIM:616910
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Anteverted nares, Delayed cranial suture closure, Low-set ears, Mandibu... ORPHA:1832
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Round face, Epiphyseal dysplasia, Conductive hearing impairment, Short phalanx of fi... OMIM:132450
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly ... ORPHA:2370
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, Triangular face, 2-3 toe syndactyly, Posteriorly rotated ears, Severe short stature... OMIM:617352
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Triangular face, Abnormal metacarpal morphology, Sandal gap, Join... ORPHA:3051
Three M Syndrome 3
Clinodactyly of the 5th finger, Triangular face, Slender long bone, Anteverted nares, Prominent n... OMIM:614205
Acromicric Dysplasia
Short nose, Decreased nerve conduction velocity, Abnormal femur morphology, Anteverted nares, Rou... ORPHA:969
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Abnormal facial shape, Macrotia, Short stature, Growth delay, Depressed nasal bridge ORPHA:438178
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Triangular face, Low-set, posteriorly rotated ears, Tapered distal phalanges of finger, Anteverte... ORPHA:371364
Potocki-Lupski Syndrome
Triangular face, Dental malocclusion, Prominent nasal tip, Mandibular prognathia, Hearing impairm... OMIM:610883
Distal Deletion 10Q
Sandal gap, Facial diplegia, Prominent fingertip pads, Cochlear malformation, Congenital sensorin... ORPHA:96148
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Large earlobe, Dental malocclusion, Depressed nasal b... OMIM:155050
Leukodystrophy, Hypomyelinating, 10
Short nose, Triangular face, Anteverted nares, Low-set ears, Hearing impairment, Arachnodactyly, ... OMIM:616420
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Triangular face, Disproportionate short-limb short stature, Sl... OMIM:259420
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Codas Syndrome
Short nose, Midline defect of the nose, Flat face, Delayed eruption of teeth, Sensorineural heari... ORPHA:1458
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Hearing impairment, Short stature,... OMIM:302950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Round ear ORPHA:1450
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Sensorineural hearing impairment, Prominent fingertip pad... OMIM:609625
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb... ORPHA:1825
X-Linked Mandibulofacial Dysostosis
Triangular face, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Short statu... ORPHA:1131
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Triangular face, Anteverted nares, Low-set ears, Intrauterine growth retardation, Hip contracture... OMIM:616801
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Triangular face, Short met... ORPHA:77258
Three M Syndrome 1
Postnatal growth retardation, Clinodactyly of the 5th finger, Triangular face, Spina bifida occul... OMIM:273750
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Triangular face, Congenital finger flexion contractures, Deviation of finger, Macr... ORPHA:1154
Silver-Russell Syndrome 5
Intrauterine growth retardation, Birth length less than 3rd percentile, Triangular face OMIM:618908
Al Kaissi Syndrome
Postnatal growth retardation, Triangular face, Abnormal pinna morphology, Low-set ears, Short sta... OMIM:617694
Three M Syndrome 2
Triangular face, Slender long bone, Delayed eruption of teeth, Anteverted nares, Prominent nasal ... OMIM:612921
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Optic atrophy, Retrognathia, Triangular face, Wide nose, Low-set ears, Intrauterine growth retard... OMIM:620428
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Round face, Depressed nasal ridge, Short stature ORPHA:1355
Silver-Russell Syndrome 3
Postnatal growth retardation, Retrognathia, Triangular face, Clinodactyly of the 5th finger, Low-... OMIM:616489
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Increased serum bile acid concentration, Iron deficiency a... OMIM:616278
Arthrogryposis, Distal, Type 2B3
Triangular face, Camptodactyly, Short stature, Adducted thumb, Hallux valgus, Overlapping fingers OMIM:618436
Nabais Sa-De Vries Syndrome, Type 2
Clinodactyly of the 5th finger, Triangular face, Anteverted nares, Microtia, Low-set ears, Promin... OMIM:618829
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Alfadhel Syndrome
Retrognathia, Triangular face, Low-set ears, Short stature, Bulbous nose OMIM:620655
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Triangular face, Clinodactyly of the 5th finger, Prominent fingerti... ORPHA:231137
Acrocephalopolydactyly
Short nose, Genu recurvatum, Microtia, Short long bone, Depressed nasal ridge, Brachydactyly ORPHA:221054
Xq12-Q13.3 Duplication Syndrome
Triangular face, Hypsarrhythmia, 2-3 toe syndactyly, Cleft earlobe, Abnormality of visual evoked ... ORPHA:314389
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Round ... ORPHA:363417
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi... OMIM:616299
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Triangular face, Anteverted nares, Low-set ears, Increased laxity of ankles, Hearing impairment, ... ORPHA:481152
20Q11.2 Microduplication Syndrome
Limited elbow extension, Short nose, Retrognathia, Clinodactyly of the 5th finger, Low-set, poste... ORPHA:363659
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Deformed... ORPHA:2831
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Triangular face, Carpal osteolys... ORPHA:2774
Intellectual Developmental Disorder With Neuropsychiatric Features
Triangular face, Depressed nasal bridge OMIM:617532
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Clinodactyly of the 5th finger, Triangular face, Rhizomelia, Long face, Low-set ears,... OMIM:614114
Autosomal Recessive Stickler Syndrome
Genu valgum, Flat face, Sensorineural hearing impairment, Epiphyseal dysplasia, Short stature, Mi... ORPHA:250984
Silver-Russell Syndrome 2
Triangular face, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short stature, Micrognathia,... OMIM:618905
Camptodactyly Syndrome, Guadalajara Type 1
Microtia, Short distal phalanx of finger, Intrauterine growth retardation, Low-set, posteriorly r... ORPHA:1327
Meier-Gorlin Syndrome 5
Triangular face, Slender long bone, Small earlobe, Microtia, Low-set ears, Prominent metopic ridg... OMIM:613805
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Triangular face, Hyperextensibility of the finger joints, Abnor... OMIM:610967
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Metaphyseal irregularity, Prominent deltoid tuberosities, Genu varu... OMIM:619636
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Anteverted nares, Enlarged epiphyses, Epiphyseal dysplasia, Dep... OMIM:184840
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Wrist swelling, Triangular face, Carpal osteolysis, Hypopl... OMIM:166300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Triangular face, Anteverted nares, Low-set ears, Prominent nose, Long fingers, Underf... OMIM:618316
Keutel Syndrome
Optic atrophy, Recurrent otitis media, Wide nose, Long face, Underdeveloped nasal alae, Hearing i... ORPHA:85202
Partington Syndrome
EEG abnormality, Triangular face, Camptodactyly OMIM:309510
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Cone-shaped epiphysis, Broad... ORPHA:439822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglobin concentration, Hemolytic anemia ORPHA:713
Silver-Russell Syndrome 4
Birth length less than 3rd percentile, Triangular face OMIM:618907
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Abnormal facial shape, Short stature... ORPHA:71267
Mulibrey Nanism
Triangular face, Wide nose, Intrauterine growth retardation, Short stature, Enamel hypoplasia, Gr... OMIM:253250
Osteogenesis Imperfecta, Type Xiii
Triangular face, Wide distal femoral metaphysis, Limitation of knee mobility, Dislocated radial h... OMIM:614856
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Short nose, Short stature, Camptodactyly of finger, Micrognathia, Growth delay, Pr... ORPHA:1495
Syngap1-Related Developmental And Epileptic Encephalopathy
Triangular face, Long face, Anteverted ears, Postaxial polydactyly, Macrotia, Abnormal facial shape ORPHA:544254
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Short metacarpal, Dumbbell-shaped fe... ORPHA:1427
Mevalonic Aciduria
Short stature, Triangular face, Low-set, posteriorly rotated ears ORPHA:29
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short nose, Wide distal femoral metaphysis, Wide nose, Delayed epip... OMIM:613320
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Triangular face, Flared nostrils, Thick nasal alae, Short stature, ... OMIM:619504
Arthrogryposis, Distal, Type 5
Triangular face, Absent phalangeal crease, Recurrent patellar dislocation, Congenital finger flex... OMIM:108145
Legius Syndrome
Low-set ears, Triangular face, Micrognathia, Posteriorly rotated ears OMIM:611431
Non-Distal Duplication 10Q
Short nose, Low-set, posteriorly rotated ears, Short stature, Micrognathia, Convex nasal ridge, D... ORPHA:1695
Short Syndrome
Radial deviation of finger, Triangular face, Slender long bone, Delayed eruption of teeth, Sensor... OMIM:269880
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Epiphyseal stippling, Flared metaphysis, Sensorineural hearing impairment, Micrognath... OMIM:215100
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short nose, Epiphyseal stippling, Anteverted nares, Microtia, Choanal atresia, Hea... ORPHA:1914
Alazami Syndrome
Postnatal growth retardation, Triangular face, Wide nose, Slender long bone, Low-set ears ORPHA:319671
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Pierpont Syndrome
Short finger, Short nose, Wide nose, Broad face, Prominent fingertip pads, Hearing impairment, Sh... OMIM:602342
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Triangular face, Slender long bone, Persistent open anterior fontan... OMIM:620601
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Triangular face, Round face, Low-set ears, Macrotia, Bulbous nose, Clinodactyly, Depressed nasal ... OMIM:616789
Osteogenesis Imperfecta, Type Xi
Triangular face, Coxa vara, Hearing impairment, Short stature, Protrusio acetabuli, Dentinogenesi... OMIM:610968
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Hypoplasia of the nasal bone, Abnormal vestibular function OMIM:606943
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Facial asymmetry, Triangular face, Clinodactyly of the 5th finger, Intrauterine growth retardation ORPHA:231147
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia of the maxilla,... OMIM:109120
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Microtia, Short metacarpal, Hypoplastic pelvis, Short distal phalanx of finger, Clinodactyly, Con... OMIM:614813
Insulin-Like Growth Factor I, Resistance To
Short finger, Retrognathia, Radial deviation of finger, Triangular face, Sandal gap, Low-set ears... OMIM:270450
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Ant... ORPHA:93329
Larsen-Like Syndrome
Recurrent otitis media, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel... OMIM:608545
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Triangular face, Hearing impairment, Short stature, Brachy... ORPHA:3218
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Clinodactyly of the 5th toe, Long nose, Retrognathia, Clinodactyly ... OMIM:620113
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Microtia, Camptodactyly, Hearing impairment, Abnormal facial shape, Growth delay, Syndactyly, Fla... OMIM:616006
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Hypoplasia... ORPHA:90653
Global Developmental Delay With Speech And Behavioral Abnormalities
Hearing impairment, Micrognathia, Recurrent otitis media, Triangular face OMIM:619243
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Periventricular Nodular Heterotopia 7
Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Hypsarrhythmia, Sensorineural hea... OMIM:617201
Orofaciodigital Syndrome Xv
Anteverted nares, Low-set ears, Postaxial hand polydactyly, Duplication of phalanx of hallux, Bro... OMIM:617127
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T... ORPHA:90037
Cebalid Syndrome
Short nose, Anteverted nares, Abnormal pinna morphology, Low-set ears, Depressed nasal ridge, Hea... OMIM:618774
Steel Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Sensorineural he... OMIM:615155
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Short nose, Low-set ears, Epiphyseal dysplasia, Metaphyseal dysplas... OMIM:614732
Harderoporphyria
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
16P11.2P12.2 Microdeletion Syndrome
Chronic otitis media, Long nose, Short nose, Proximal placement of thumb, Long face, Abnormal pin... ORPHA:261211
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... ORPHA:90044
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Clinodactyly of the 5th finger, Triangular face, Anteverted nares, Microtia, Short fo... OMIM:227330
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of... OMIM:193700
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Macrotia, Ca... ORPHA:2701
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Abnormal cartilage collagen, Splayed epiphyses, Flared metaph... OMIM:156550
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Short stature, Short palm, ... OMIM:170390
Abruzzo-Erickson Syndrome
Flat face, Sensorineural hearing impairment, Short stature, Conductive hearing impairment, Macrot... ORPHA:921
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
15q26 overgrowth syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormal finger morphology, Arachnod... DECIPHER:81
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
20Q13.33 Microdeletion Syndrome
Triangular face, Low-set, posteriorly rotated ears, Prominent crus of helix, Growth delay, Short ... ORPHA:261311
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,... ORPHA:93346
17P13.3 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Wide nose, Low-set ears, Congenital hip dislocation ORPHA:217385
Sotos Syndrome
Advanced eruption of teeth, Genu valgum, Triangular face, Long face, Anteverted nares, Mandibular... OMIM:117550
Yuan-Harel-Lupski Syndrome
Talipes valgus, Decreased nerve conduction velocity, Triangular face, Clinodactyly of the 5th fin... OMIM:616652
Peroxisome Biogenesis Disorder 11A (Zellweger)
Triangular face, Wide anterior fontanel, Anteverted nares, Large face, Depressed nasal bridge OMIM:614883
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Flat face, Mandibular prognathia, Depressed nasal ridge,... ORPHA:1248
14Q11.2 Microdeletion Syndrome
Short nose, Low-set, posteriorly rotated ears, Toe clinodactyly, Micrognathia, Toe syndactyly, De... ORPHA:261120
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Short nose, Delayed puberty, Wide nose, Severe postnatal growth retarda... ORPHA:391408
Ohdo Syndrome, X-Linked
Triangular face, Stenosis of the external auditory canal, Microtia, Long face, Low-set ears, Bulb... OMIM:300895
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Triangular face, Low-s... ORPHA:397590
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Hennekam-Beemer Syndrome
Optic atrophy, Long nose, Clinodactyly of the 5th finger, Triangular face, Wide nose, Microtia, D... ORPHA:2135
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Sensorineural hearing impairment, Hypoplastic iliac ... OMIM:614134
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypotension, Increas... ORPHA:91547
Short Syndrome
Triangular face, Sensorineural hearing impairment, Abnormal dental enamel morphology, Short palm,... ORPHA:3163
Pfeiffer Syndrome Type 1
Short nose, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Bicoronal synostosi... ORPHA:93258
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Short nose, EEG with centrotemporal focal spike waves, Continuous spike and waves ... OMIM:245570
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, He... OMIM:619736
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Postnatal growth retardation, Prominent protruding coccyx, Long face, Antev... ORPHA:480907
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent fingertip pads, Short stature, Macrotia, Prominent nasal ... OMIM:300558
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Round face, Flat acetabular roof, Broad fe... OMIM:251450
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Chung-Jansen Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Round face, Macrotia, Micrognathia,... OMIM:617991
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Hearing abnormality, Abnormal femur morphology, Abnormal diaphysis mor... ORPHA:1842
Paganini-Miozzo Syndrome
Triangular face, Microtia, Mandibular prognathia, Low-set ears, Posteriorly rotated ears OMIM:301025
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Low-set ears, P... OMIM:618506
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Grant Syndrome
Joint dislocation, Wormian bones, Abnormal pelvic girdle bone morphology, Bowing of the long bone... ORPHA:2097
3Q27.3 Microdeletion Syndrome
Triangular face, Slender nose, Small earlobe, Mandibular prognathia, Low-set ears, Arachnodactyly... ORPHA:397695
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho... ORPHA:536471
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Abnormal antihelix morphology, Finger syndactyly, Microtia, Split... ORPHA:2145
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Triangular face, Delayed cranial suture closure, Wormian bones, Low... OMIM:616603
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Int... OMIM:218000
Cutis Laxa, Autosomal Recessive, Type Iib
Triangular face, Narrow nasal ridge, Wormian bones, Bowing of the long bones, Congenital hip disl... OMIM:612940
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Infantile Sialic Acid Storage Disease
Congestive heart failure, Vacuolated lymphocytes, Failure to thrive, Splenomegaly, Conjugated hyp... OMIM:269920
Otodental Dysplasia
Delayed eruption of teeth, Sensorineural hearing impairment, Anteverted nares, Long face, Enamel ... OMIM:166750
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Elevated circul... OMIM:614300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Ohdo Syndrome
Short nose, Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Microtia, An... OMIM:249620
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Triangular face, Rhizomelia, Sandal gap, Wide nose, Sensorineural heari... OMIM:607143
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Triangular face, Delayed cranial suture closure, Short middle pha... OMIM:180860
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcaneus,... OMIM:300863
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Rocker bottom foot, Short nose, Triphalangeal thumb, Severe postnatal growth retar... ORPHA:3078
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Disproportionate short-limb short stat... ORPHA:2655
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Triangular face, Rhizomelia, Femoral bowing, Broad thumb, Wormian bones, Sh... OMIM:619638
Facial Paresis, Hereditary Congenital, 3
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Facial palsy, Micro... OMIM:614744
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:235555
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Simosa Craniofacial Syndrome
Long nose, Hearing abnormality, Long face, Abnormal pinna morphology, Low-set ears, Depressed nas... OMIM:182150
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel, Low-set ears, Flat face, Wide nasal bridge OMIM:614859
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Triangular face, Sensorineural hearing impairment, Low-set ears, Hearing impairment, ... OMIM:300661
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Triangular face, Disproportionate short-limb short stature, Sensorineural hearing impa... OMIM:616541
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Round face, Short metacarp... OMIM:614613
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Polycythemia, Dys... OMIM:613280
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Triangular face, Low-set ears ORPHA:65288
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Long nose, Triangular face, Bicoronal synostosis, Long face, Short ... OMIM:619184
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Triangular face, Fused cervical vertebrae, Optic nerve hypoplasia, Shor... OMIM:609053
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Triphalangeal thumb, Low-set, posteriorly rotated ears, Flat face, Finger syndac... ORPHA:2994
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Triangular face, Abnormality of dental color, 2-3 toe syndactyly, Lo... ORPHA:37553
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Triangular face, Joint contracture of the 5th finger, 2-3 toe syndactyly, Prominent... OMIM:620098
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Short... OMIM:619260
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Hammertoe, Claw hand deformity, Sensorineural hearing impair... OMIM:601455
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Low-set ears, Short stature, Short palm, Brachydactyly, Protruding ear, Short foot, Mi... OMIM:618522
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Craniofacial-Deafness-Hand Syndrome
Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Flat face, Narrow naris,... OMIM:122880
Weiss-Kruszka Syndrome
Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Microt... OMIM:618619
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Sensorineural hearing impairment, Wide anterior fontanel, Low-set e... OMIM:614541
Silver-Russell Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, ... ORPHA:813
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Low-set ears, Depre... ORPHA:163966
Ruijs-Aalfs Syndrome
Triangular face, Elbow flexion contracture, Short stature, Clinodactyly, Micrognathia, Prominent ... OMIM:616200
Perlman Syndrome
Short nose, Retrognathia, Anteverted nares, Round face, Low-set ears, Micrognathia, Posteriorly r... ORPHA:2849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Retrognathia, Anteverted nares, Round face, Low-set ears, Growth delay, Recurrent upp... OMIM:614069
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Lambdoidal craniosynostosis, Triangular face, Narrow iliac wing, Co... OMIM:616294
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Short stature, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Rhiny
Short nose, Anteverted nares OMIM:180360
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Clark-Baraitser Syndrome
Short nose, Sandal gap, Low hanging columella, Anteverted nares, Low-set ears, Large earlobe, Cli... OMIM:617752
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Marbach-Rustad Progeroid Syndrome
Femur fracture, Triangular face, Short clavicles, Eruption failure, Short stature, Growth delay, ... OMIM:619322
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Short stature, Enlarged joint... ORPHA:156728
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Anteverted nares, Round face, Flat face, Coarse facial features, Wide nasal bridge,... OMIM:615979
Oculoskeletodental Syndrome
Retrognathia, Sensorineural hearing impairment, Thick nasal alae, Hearing impairment, Conductive ... ORPHA:557003
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ea... ORPHA:1620
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Triangular face, Proximal placement of thumb, Optic nerve hypoplasia, Long ... ORPHA:261250
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Narrow nasal bridge, Sensorineural hearing impairment, Metacarpophalangeal joint cont... ORPHA:544503
Al-Raqad Syndrome
Short nose, Sandal gap, Low-set ears, Brachydactyly, Flat face OMIM:616459
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Postnatal growth retardation, 2-3 toe syndactyly, Mandibular prognathia, Low-set ears, High-frequ... ORPHA:2324
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Prelingual sensorineural hearing impairment, Clinodactyly of the 5t... ORPHA:73272
Distal Monosomy 7Q36
Optic atrophy, Clinodactyly of the 5th finger, Short stature, Macrotia, Micrognathia, Symphalangi... ORPHA:1636
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Portal hypertension, Thrombocytopenia, L... ORPHA:64743
Peroxisome Biogenesis Disorder 12A (Zellweger)
Triangular face, Wide anterior fontanel, Short stature, Growth delay, Prominent nose, Delayed clo... OMIM:614886
Odontochondrodysplasia
Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Delayed eruption of... ORPHA:166272
Meier-Gorlin Syndrome 3
Triangular face, Patellar hypoplasia, Slender long bone, Aplasia/Hypoplasia of the patella, Micro... OMIM:613803
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Craniosynostosis, Anteverted nares, Microtia, Low-set ears, Bowing of the long bones,... ORPHA:171839
Peho-Like Syndrome
Optic atrophy, Short nose, Retrognathia, Hypsarrhythmia, Tapered finger OMIM:617507
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal diaphysis morphology, Triangular face, Slender long bone, ... ORPHA:73230
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Clinodactyly of the 5th finger, Triangular face, Finger syndactyly, Long face, Anteve... ORPHA:1974
Dermotrichic Syndrome
Short nose, Aganglionic megacolon, Proportionate short stature, Macrotia, EEG abnormality, Depres... ORPHA:99688
Miller-Dieker Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Growth delay, EEG abnormality ORPHA:531
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Aganglionic megacolon, Tapered finger, Abnormal autonomic nervous system physiology, ... OMIM:613870
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Round face, Macrotia, Bulbous nose, Wide nasal bridge, Mild short stature OMIM:620292
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Noonan Syndrome 14
Limited elbow extension, Triangular face, Cubitus valgus, Low-set ears, Short stature, Posteriorl... OMIM:619745
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Hearing impairment, Prominent... OMIM:618828
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Round face, Low-set ears, Intrauterine growth retardation, Campt... OMIM:617333
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Cutis Laxa, Autosomal Recessive, Type Iiib
Triangular face, Prominent ear helix, Narrow nasal ridge, Elbow flexion contracture, Posteriorly ... OMIM:614438
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Round face, Dumbbell-shaped long bone, Dumbbell-shaped femu... ORPHA:485
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Larsen Syndrome
Broad distal phalanx of finger, Flat face, Large joint dislocations, Finger syndactyly, Broad thu... ORPHA:503
Tolchin-Le Caignec Syndrome
Clinodactyly of the 5th finger, Triangular face, Sensorineural hearing impairment, Long face, Abn... OMIM:618971
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... ORPHA:2347
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Conju... ORPHA:79303
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Short long bone, Knee dislocation, Short stature, Flat face, Adduc... OMIM:620269
Partington Syndrome
EEG abnormality, Triangular face ORPHA:94083
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Triangular face, Wide anterior fontanel, Long face, Low-set ears, Congenital hip disl... ORPHA:457279
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Hammertoe, Long face, Hearing impairment, Short stature, Micrognathia,... OMIM:619833
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Dumbbell-shaped long bo... OMIM:228520
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sensorineural hearing impairment... OMIM:215150
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Growth delay, Camptodactyly of finger, Macrotia, Micrognathia, Posteriorly rotated ea... ORPHA:2083
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Pro... OMIM:601358
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Short nose, Sensorineural hearing impairment, Anteverted nares, Elb... OMIM:612394
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Clinodactyly of the 5th finger, Triangular face, Short distal phalanx of toe, Intrauterine growth... ORPHA:1292
Mullegama-Klein-Martinez Syndrome
Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Triangular face, Sensorineural hearin... OMIM:301022
Foxp1 Syndrome
Short nose, Hypoplastic helices, Recurrent otitis media, Retrognathia, Mandibular prognathia, Pro... ORPHA:391372
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Patellar hypoplasia, Sensorineural hearing impairment, Anteverted nares, Depressed ... ORPHA:464288
Isolated Arrhinia
Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal... ORPHA:1134
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Triangular face, Anteverted nares, Ro... OMIM:148050
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Short nose, Cubitus valgus, Low-set, posteriorly rotated ears, Spina bifida occult... ORPHA:1185
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Prominent fingertip pads, Short dist... OMIM:602535
Marshall Syndrome
Small proximal tibial epiphyses, Sensorineural hearing impairment, Irregular femoral epiphysis, I... OMIM:154780
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Triangular face, Cubitus valgus, Abnormality of the wrist, Upper limb und... ORPHA:529962
Transaldolase Deficiency
Triangular face, Wide anterior fontanel, Low-set ears, Intrauterine growth retardation, Depressed... OMIM:606003
Potocki-Shaffer Syndrome
Short nose, 2-5 finger cutaneous syndactyly, Brachydactyly, Wormian bones, Wide nasal bridge, Und... OMIM:601224
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Growth delay, Shortening of all distal phalanges of the fingers, Broad nasal tip, Lar... OMIM:615716
Cockayne Syndrome B
Square pelvis bone, Sensorineural hearing impairment, Abnormal pinna morphology, Hypoplastic ilia... OMIM:133540
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Anteverted nares, Low-set ... OMIM:619859
Cree Mental Retardation Syndrome
Rocker bottom foot, Triangular face, Low-set ears, Cutaneous finger syndactyly, Micrognathia, Pos... OMIM:606851
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Triangular face, Sandal gap, Wide nose, Abnormal pinna morph... ORPHA:477817
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Short nose, Retrognathia, Clinodactyly of the 5th finger, Long face... OMIM:613026
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Round face, Broad thumb, Severe short st... OMIM:615777
Verheij Syndrome
Short nose, Retrognathia, Optic nerve hypoplasia, Anteverted nares, Short stature, Growth delay, ... OMIM:615583
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Short nose, Retrognathia, Sensorineural hearing impairment, Antever... OMIM:243310
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Short nose, Mixed hearing impairment, Sensorineural h... OMIM:616331
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Flared metaphysis, Anteverted nares, Wormian bones, Low-set ears, Intrauterine growth... OMIM:616897
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Convex nasal ridge, Abnormal metaca... ORPHA:3258
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Triangular face, Long face, Narrow face, Growth delay, Short stature, Protruding ear, Cupped ear ORPHA:93947
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta, Microtia, Sever... ORPHA:2983
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Round face, Contracture of the proximal interphalangeal joint of the 3rd finger, In... OMIM:301044
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Abnormal cranial nerve morphology, Sensorineural hearing impairme... ORPHA:1522
Halperin-Birk Syndrome
Optic atrophy, Triangular face, Hearing impairment, Micrognathia, Intrauterine growth retardation... OMIM:618651
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Microtia, Low-set ears, Abnormal pelvic girdle bone morph... ORPHA:1988
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Low-set ears, Short stature, Micrognathia, Broad nasal tip, Prominent nasal bridge OMIM:613544
Saul-Wilson Syndrome
Postnatal growth retardation, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the ... OMIM:618150
Glycogen Storage Disease Xii
Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity, Nor... OMIM:611881
Bruck Syndrome
Triangular face, Pterygium, Bowing of the long bones, Short stature, Wormian bones ORPHA:2771
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Noonan Syndrome With Multiple Lentigines
Triangular face, Low-set, posteriorly rotated ears, Spina bifida occulta, Sensorineural hearing i... ORPHA:500
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Abnorm... ORPHA:949
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia ORPHA:90036
Trisomy 12P
Short nose, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Low-set ears, Short st... ORPHA:1699
Even-Plus Syndrome
Short nose, Microtia, Bifid nasal tip, Depressed nasal ridge, Epiphyseal dysplasia, Severe short ... OMIM:616854
Dubowitz Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Triangular face, Delayed eruption o... OMIM:223370
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, De... ORPHA:2780
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia OMIM:214950
Sponastrime Dysplasia
Disproportionate short-limb short stature, Short long bone, Aplasia of the nasal bone, Metaphysea... ORPHA:93357
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Short nose, Hip subluxation, Triangular face, Low-set ears, Prominent metopic ridg... OMIM:613457
Distal Deletion 15Q
Postnatal growth retardation, Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Triangular... ORPHA:1596
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Short nose, Wide nose, Low-set ears, Hearing impairment, Hypoplasia of the maxilla... OMIM:614261
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level OMIM:609734
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Short metacarpal, Tarsal synostosis, ... OMIM:272460
Fetal Cytomegalovirus Syndrome
Anemia, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Low hanging columella, Prominent nose, Long fingers, Micrognathia, ... OMIM:615668
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Short stature, Synd... OMIM:616430
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Hypoplastic iliac wing, Microtia, Short long bone, Rou... OMIM:611717
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Low-set ears, Choanal atresia, Slender finger, Long fingers, Microg... ORPHA:1895
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Low-set ears, D... OMIM:613443
Congenital Disorder Of Glycosylation, Type Ii
Hypsarrhythmia, Sensorineural hearing impairment, Low-set ears, Short stature, Flat face, Wide na... OMIM:607906
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anterior open-bite ... OMIM:617877
Donnai-Barrow Syndrome
Short nose, Sensorineural hearing impairment, Wide anterior fontanel, Posteriorly rotated ears, D... ORPHA:2143
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Low-set ears, Short stature, Macrot... ORPHA:96097
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal cranial nerve mor... OMIM:601596
12Q14 Microdeletion Syndrome
Abnormal nostril morphology, Triangular face, Clinodactyly of the 5th finger, Wide nose, Short st... ORPHA:94063
Leopard Syndrome 1
Delayed puberty, Limited elbow movement, Triangular face, Cubitus valgus, Spina bifida occulta, H... OMIM:151100
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Fetal Trimethadione Syndrome
Short nose, Abnormal helix morphology, Low-set ears, Micrognathia, Intrauterine growth retardatio... ORPHA:1913
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Synostosis of carpal bo... ORPHA:710
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear... OMIM:271700
16P12.1P12.3 Triplication Syndrome
Short nose, Retrognathia, 2-3 toe syndactyly, Prominent fingertip pads, Low-set ears, Intrauterin... ORPHA:485405
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short... OMIM:151210
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Overlapping toe, Clinodactyly, Optic atrophy, Long face, Camptodactyly, Hearing... OMIM:309590
Ruvalcaba Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnorma... ORPHA:3121
Tetrasomy 5P
Postnatal growth retardation, Short nose, Clinodactyly of the 5th finger, Short hallux, Wide ante... ORPHA:3309
Fetal Hydantoin Syndrome
Short nose, Hearing abnormality, Triphalangeal thumb, Low-set, posteriorly rotated ears, Abnormal... ORPHA:1912
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyperbilirubinemia, Hypo... ORPHA:542323
Robinow Syndrome, Autosomal Recessive 2
Short nose, Sandal gap, Anteverted nares, Prominent fingertip pads, Low-set ears, Camptodactyly, ... OMIM:618529
Smith-Magenis Syndrome
Chronic otitis media, Short nose, Delayed puberty, Clinodactyly of the 5th finger, Anteverted nar... ORPHA:819
Achondrogenesis Type 1B
Short nose, Disproportionate short stature, Anteverted nares, Micrognathia, Severe short stature,... ORPHA:93298
Wiedemann-Steiner Syndrome
Contracture of the distal interphalangeal joint of the fingers, Intrauterine growth retardation, ... OMIM:605130
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalange... ORPHA:2547
Trisomy 10P
Retrognathia, Intrauterine growth retardation, Abnormality of the ear, Low voltage EEG, EEG with ... ORPHA:171929
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Proximal placement of thumb, Anteverted nares, Microtia, Low-set ears, Choanal atresi... OMIM:610536
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Epistaxis, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Flat Face-Microstomia-Ear Anomaly Syndrome
Long nose, Abnormal tragus morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morp... ORPHA:1968
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Short nose, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, M... OMIM:616723
Marshall Syndrome
Short nose, Genu valgum, Sensorineural hearing impairment, Anteverted nares, Hypoplasia of the ma... ORPHA:560
Saethre-Chotzen Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Broad thumb, Craniosynosto... ORPHA:794
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Short nose, Low hanging columella, Delayed eruption of teeth, Antever... OMIM:615866
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Sandal gap, Short stature, Posteriorly rotated ears, Optic disc pallor OMIM:300887
Menke-Hennekam Syndrome 2
Sandal gap, Narrow nasal bridge, Absent earlobe, Hearing impairment, Micrognathia, Cutaneous synd... OMIM:618333
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Retrognathia, Broad nasal tip OMIM:613670
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Marshall-Smith Syndrome
Optic atrophy, Short nose, Retrognathia, Slender long bone, Anteverted nares, Bowing of the long ... ORPHA:561
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Clinodactyly of the 5th finger, Triangular face, Delayed closure of... ORPHA:96182
Gaucher Disease, Perinatal Lethal
Short nose, Retrognathia, Triangular face, Anteverted nares, Microtia, Low-set ears, Micrognathia... OMIM:608013
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Ankle flexion contracture, Interictal epileptiform activity, Bilateral conductive hea... OMIM:617802
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Short nose, Mixed hearing impairment, Epiphyseal stippling of toe p... ORPHA:79345
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Flexion contracture of toe, Flat face, Shoulder flexion co... OMIM:255800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Postaxial hand polydactyly, Short stature, Abnormality of visual evoked potentials, M... ORPHA:1389
Floating-Harbor Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thumb, Ivory ep... OMIM:136140
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Hearing impairment, Short stature, Brachydactyly, Flat face, Depr... ORPHA:93274
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Short nose, Recurrent otitis media, Long face, Narrow nasal ridge, Low-set ea... ORPHA:363528
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna... ORPHA:1514
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Genu valgum, Flared metaphysis, Hypsarrhythmia, Sensorineural hearing impairment, Del... OMIM:616007
Trisomy 18
Short nose, Triangular face, Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Poi... ORPHA:3380
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Triangular face OMIM:619264
Nizon-Isidor Syndrome
Triangular face, Anteverted nares, Prominent fingertip pads, Long fingers, Prominent nasal bridge... OMIM:618872
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Postnatal growth retardation, Retrognathia, Triangular face, Cubitus valgus, Anteverted nares, Lo... OMIM:613563
Schimke Immunoosseous Dysplasia
Lateral displacement of the femoral head, Triangular face, Growth delay, Hypoplasia of the capita... OMIM:242900
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Postnatal growth retardation, Short nose, Oval face, Sensorineural hearing impairment, Optic nerv... OMIM:300749
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Microtia, Round face, Intrauterine growth retardation, Clinodactyly, Long face, Depressed nasal t... OMIM:620494
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Hyperammonemia,... ORPHA:1667
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Retrognathia, Microtia, Narrow face, Hearing impairment, Macrotia, Hypoplasia of teet... OMIM:620250
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Triangular face, Microtia, Narrow iliac wing, Choanal atresia, Sh... OMIM:300712
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Short long bone, Femoral bowing, Abnormal autonomic ... OMIM:601559
Achondrogenesis Type 1A
Short nose, Anteverted nares, Short palm, Micrognathia, Severe short stature, Flat face, Short foot ORPHA:93299
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Disproportionate short stature, Flat acetabular roof, Bowing of t... ORPHA:1801
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Witteveen-Kolk Syndrome
Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Arachn... OMIM:613406
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia, Failure to thrive, Hematochezia, Splenomegaly OMIM:613812
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar d... ORPHA:93328
Spondyloepiphyseal Dysplasia Congenita