banner
Genes Phenotypes Help, News, Blog

Gene: Col11a2 MGI:88447

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 mean corpuscular volume Col11a2tm1b(KOMP)Wtsi HET Early adult 3.67×10-06
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
decreased circulating triglyceride level Col11a2tm1b(KOMP)Wtsi HET Early adult 2.37×10-07
increased startle reflex Col11a2tm1b(KOMP)Wtsi HET Early adult 6.25×10-06
increased circulating bilirubin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.51×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View 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
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Short Stature, Brussels Type
Short stature, Abnormal facial shape, Calcification of cartilage, Microretrognathia, Triangular f... ORPHA:2867
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... OMIM:237800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Flat face, Aplasia/Hypoplasia involving the nose, Sensorineural hearing ... ORPHA:1529
Chondrodysplasia With Joint Dislocations, Gpapp Type
Patellar dislocation, Wide nasal bridge, Micrognathia, Limited elbow extension, Knee dislocation,... OMIM:614078
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, EEG abnormality, Wide nasal bridge, Micrognathia, Overlapping toe, Prominent meto... OMIM:613792
Chromosome 15Q26-Qter Deletion Syndrome
Wide nasal bridge, Short stature, Micrognathia, Triangular face, Brachydactyly, Low-set ears, Sho... OMIM:612626
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Prominent nose, Coarse facial features, Triangular face, Bulbous nose, Thick nasal alae ORPHA:293707
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Macrotia, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Triangular face... OMIM:615419
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... OMIM:616689
Mesomelia-Synostoses Syndrome
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of... ORPHA:2496
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... OMIM:613673
Mullegama-Klein-Martinez Syndrome
Polydactyly, Sensorineural hearing impairment, Prominent nose, Wide nasal bridge, Microtia, Short... OMIM:301022
Alazami Syndrome
Wide nose, Wide nasal bridge, Triangular face, Severe short stature, Depressed nasal bridge, Low-... OMIM:615071
Arthrogryposis, Distal, Type 2B1
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, Wide nasal bridge, Shor... OMIM:601680
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Kbg Syndrome
Underdeveloped nasal alae, Bilateral conductive hearing impairment, Macrotia, Vertebral fusion, E... ORPHA:2332
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia ORPHA:79234
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Abnormality of the oute... ORPHA:217340
Distal Trisomy 18Q
Camptodactyly of finger, Micrognathia, Clinodactyly of the 5th finger, Round face, Triangular fac... ORPHA:1716
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Micrognathia, Short nose, Anteverted nares, Low-set, posteriorly rotated ears ORPHA:2015
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Delayed closure of the anterior fontanelle, Short stature, Clinodactyly of the 5th f... ORPHA:231140
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbiliru... OMIM:620010
Arthrogryposis, Distal, Type 2B2
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... OMIM:618435
Congenital Myopathy 19
Depressed nasal ridge, Micrognathia, Triangular face, Low-set ears, Hearing impairment, Posterior... OMIM:618578
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
17P11.2 Microduplication Syndrome
EEG abnormality, Short stature, Micrognathia, Triangular face, Low-set, posteriorly rotated ears,... ORPHA:1713
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Limited elbow movement, Abnormal facial shape, Triangular face, Limitation of knee ... ORPHA:319171
3-Hydroxyisobutyric Aciduria
Triangular face, Micrognathia, Intrauterine growth retardation, Microtia ORPHA:939
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micrognathia, T... OMIM:618342
Adenylosuccinate Lyase Deficiency
Abnormal facial shape, Short nose, Anteverted nares, Prominent metopic ridge, Low-set ears ORPHA:46
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Macrotia, Convex nasal ridge, Mandibular prognathia, Facial asymmetry, Triangular fac... ORPHA:1110
Short Stature, Dauber-Argente Type
Short stature, Delayed eruption of teeth, Triangular face, Decreased fibular diameter, Long toe, ... OMIM:619489
Legg-Calvé-Perthes Disease
Short stature, Cartilage destruction, Joint dislocation ORPHA:2380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Flat face, Conductive hearing impairment, Hypoplastic ischia, Short nose, Depressed ... OMIM:616910
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Abnormal facial shape, Clinodactyly, Short nose, Cubitus valgus, Sh... OMIM:300577
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Flat face, Wide nasal bridge, Short stature, Micrognathia, Clinodactyly, Camptodactyly, Intrauter... OMIM:613604
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
EEG abnormality, Short stature, Abnormal facial shape, Triangular face, Long face, Long nose, Pro... ORPHA:85329
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short phalanx of finger, Genu valgum, Conductive hearing impairment, Coxa valga, Flat face, Short... OMIM:132450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Acrocraniofacial Dysostosis
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsa... OMIM:201050
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, 2-3 toe syndactyly, Clinodactyly, Triangular face, Severe short stature, Intrauteri... OMIM:617352
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macrotia, Mandibular prognathia, EEG abnormality, Wide nasal bridge, Short stature, Multifocal ep... ORPHA:369891
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face, Severe intraute... ORPHA:231144
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Stickler Syndrome, Type Iv
Genu valgum, Flat face, Sensorineural hearing impairment, Short stature, Flat capital femoral epi... OMIM:614134
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Large earlobe, Short columella, Depressed nasal bridge, Short di... OMIM:155050
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Epiphyseal stippling, Short nose, Depressed nasal bridge, Anosmia, Short distal ph... OMIM:302950
Fatty Acyl-Coa Reductase 1 Deficiency
Macrotia, Short stature, Abnormal facial shape, Short nose, Depressed nasal bridge, Growth delay ORPHA:438178
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Microg... OMIM:259420
Codas Syndrome
Flat face, Sensorineural hearing impairment, Short metacarpal, Crumpled ear, Delayed eruption of ... ORPHA:1458
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Nicolaides-Baraitser Syndrome
Joint dislocation, Abnormal finger morphology, Abnormal metacarpal morphology, Clubbing of toes, ... ORPHA:3051
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Bulbous nose, Round face, Short ... ORPHA:969
Three M Syndrome 3
Short stature, Hip dysplasia, Slender long bone, Prominent nasal tip, Clinodactyly of the 5th fin... OMIM:614205
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Distal Monosomy 10Q
Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Morphological abnormality of th... ORPHA:96148
Chromosome 10Q26 Deletion Syndrome
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, 2-3 toe cutaneous syndactyly... OMIM:609625
Ring Chromosome 8 Syndrome
Deviation of finger, Round ear, Anteverted nares, Short nose ORPHA:1450
Leukodystrophy, Hypomyelinating, 10
Triangular face, Short nose, Hypoplasia of the antihelix, Anteverted nares, Arachnodactyly, Low-s... OMIM:616420
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Micrognathia, Fac... ORPHA:1131
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Macrotia, Avascular necrosis of the capital femoral epiphysis, Short met... ORPHA:77258
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Narrow nasal bridge, Sensorineural hearing impairment, Short nose OMIM:618379
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Knee flexion contracture, Enlarged naris, Hip contracture, Small hand, EEG abnormality, Wide nasa... ORPHA:371364
Three M Syndrome 1
Mandibular prognathia, Short 5th finger, Joint dislocation, Short stature, Slender long bone, Cli... OMIM:273750
Metaphyseal Acroscyphodysplasia
Short toe, Genu varum, Flat face, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Joint dis... ORPHA:1240
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Sensorineural hearing impairment, Finger syndactyly, Wide nasal bridge, Short stature, Abnormalit... ORPHA:1825
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Hip dislocation, Triangular face, Adducted thumb, Wormian bones, ... OMIM:616603
Three M Syndrome 2
Dental malocclusion, Short 5th finger, Short stature, Delayed eruption of teeth, Slender long bon... OMIM:612921
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Tapered finger, Prominent nose, Triangular face, Anteverted nares, Low-set ears,... OMIM:616801
Potocki-Lupski Syndrome
Dental malocclusion, Mandibular prognathia, EEG abnormality, Short stature, Micrognathia, Promine... OMIM:610883
Silver-Russell Syndrome 5
Intrauterine growth retardation, Birth length less than 3rd percentile, Triangular face OMIM:618908
Al Kaissi Syndrome
Small hand, Wide nasal bridge, Short stature, Clinodactyly, Triangular face, Depressed nasal brid... OMIM:617694
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Congenital finger flexion contractures, Macrotia, Optic atrophy, Triangular face, Arachnodactyly,... ORPHA:1154
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... OMIM:605814
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Silver-Russell Syndrome 3
Retrognathia, Small hand, Short stature, Clinodactyly of the 5th finger, Triangular face, Antecub... OMIM:616489
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short stature, Round face, Short nose, Anteverted nares ORPHA:1355
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Short stature, Camptodactyly, Triangular face, Adducted thumb, Overlapping fingers OMIM:618436
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Short stature, Short nose, Depressed nasal bridge, Anteverted nares, Low-set ears OMIM:616430
20Q11.2 Microduplication Syndrome
Retrognathia, Flat face, Short foot, Wide nasal bridge, Microtia, Coarse facial features, Thicken... ORPHA:363659
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Micrognathia, Abnormal optic disc morphology, Round face, Tibial deviation of the ... ORPHA:363417
Nabais Sa-De Vries Syndrome, Type 2
Tapered finger, Prominent nose, Microtia, Micrognathia, Clinodactyly of the 5th finger, Triangula... OMIM:618829
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face, Narrow nose, Pr... ORPHA:231137
3M Syndrome
Hypoplastic pubic bone, Abnormality of the elbow, Short stature, Delayed eruption of teeth, Slend... ORPHA:2616
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... OMIM:235700
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Genu valgum, Flat face, Mandibular prognathia, Coxa vara, Short metacarpal, Depressed ... ORPHA:2831
Acrocephalopolydactyly
Depressed nasal ridge, Microtia, Short long bone, Short nose, Brachydactyly, Genu recurvatum ORPHA:221054
Meier-Gorlin Syndrome 5
Small earlobe, Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, ... OMIM:613805
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Slender long bone, Micrognathia, Abno... ORPHA:2774
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Silver-Russell Syndrome 2
2-3 toe syndactyly, Delayed closure of the anterior fontanelle, Short stature, Micrognathia, Clin... OMIM:618905
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:182900
Autosomal Recessive Stickler Syndrome
Flat face, Genu valgum, Sensorineural hearing impairment, Short stature, Micrognathia, Epiphyseal... ORPHA:250984
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Dystonia, Hyperprolinemia, Bradycardi... OMIM:616299
Mosaic Variegated Aneuploidy Syndrome 2
Round ear, Rhizomelia, Short stature, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger,... OMIM:614114
Acromesomelic Dysplasia 4
Short phalanx of finger, Wide nasal bridge, Short toe, Genu valgum, Metaphyseal irregularity, Bro... OMIM:619636
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Macrotia, Abnormal facial shape, Hip dislocation, Protruding ear, Increased laxity of ankles, Tri... ORPHA:481152
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Metatarsal osteolysis, Micrognathia, Triangular face, Metacarpal osteolysis, Hypo... OMIM:166300
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Short toe, Flat face, Short nose, Narrow ... ORPHA:1327
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Hearing impairment, Pos... ORPHA:439822
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Anterior radial head dislocation, Hyperextensibility of the finger joi... OMIM:610967
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, ... OMIM:614856
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:185000
Mulibrey Nanism
Wide nose, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Short stature, Triangular f... OMIM:253250
Partington Syndrome
Camptodactyly, EEG abnormality, Triangular face OMIM:309510
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Sensorineural hearing impairment, Short stature, Delayed eruption of t... ORPHA:71267
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Optic atrophy, Short stature, Micrognathia, Short nose, Growth delay, In... ORPHA:1495
Silver-Russell Syndrome 4
Birth length less than 3rd percentile, Triangular face OMIM:618907
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Prominent nose, Wide nasal bridge, Underfolded helix, Large earlobe, Overlapping toe, Triangular ... OMIM:618316
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Short stature, Triangular face ORPHA:29
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor ORPHA:713
Short Syndrome
Underdeveloped nasal alae, Dental malocclusion, Macrotia, Sensorineural hearing impairment, Wide ... OMIM:269880
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, 2-3 toe syndactyly, Short stature, Cutaneous finger syndactyly, Hypsarrhythmia, Tr... ORPHA:314389
Legius Syndrome
Low-set ears, Micrognathia, Posteriorly rotated ears, Triangular face OMIM:611431
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Intellectual Developmental Disorder With Neuropsychiatric Features
Depressed nasal bridge, Triangular face OMIM:617532
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... OMIM:311300
Non-Distal Trisomy 10Q
Convex nasal ridge, Short stature, Micrognathia, Short nose, Depressed nasal bridge, Low-set, pos... ORPHA:1695
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Flat face, Microtia, Abnormal facial shape, Camptodactyly, Syndactyly, Depressed nasal bridge, Gr... OMIM:616006
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Microtia, Epiphyseal stippling, Intrauterine growth retardation, Short nose, Depre... ORPHA:1914
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Sensorineural hearing impairment, Rhizomelia, Micrognathia, Epiphyseal stippling, Seve... OMIM:215100
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, Abnormal facial shape, Triangular face, Long face, Anteverted ears, Postaxial polydactyly ORPHA:544254
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macrotia, Clinodactyly, Round face, Triangular face, Depressed nasal bridge, Low-set ears, Bulbou... OMIM:616789
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridg... OMIM:184840
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Congenital finger flexion contractures, Limited wrist extension, Short ... OMIM:108145
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... OMIM:266200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Posteriorly rotated ears, Short metatarsal, Prominent nose, Triangular face, Short foot, Mandibul... OMIM:614813
Alazami Syndrome
Wide nose, Slender long bone, Triangular face, Low-set ears, Postnatal growth retardation ORPHA:319671
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face ORPHA:231147
Chopra-Amiel-Gordon Syndrome
EEG abnormality, Short stature, Thick nasal alae, Triangular face, Flared nostrils, Postnatal gro... OMIM:619504
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short stature, Triangular face, Brachydactyly, Hearing impairment, Abnormal femoral epiphysis mor... ORPHA:3218
Pierpont Syndrome
Wide nose, Short toe, Broad face, Short foot, Short stature, Short finger, Short nose, Large fles... OMIM:602342
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Sensorineural hearing impairment, Coxa valga, Short stature, Abnormal auditory evoked ... OMIM:109120
Stickler Syndrome Type 1
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Abnormal epiphysis morph... ORPHA:90653
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Flat face, Short stature, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic ... ORPHA:2725
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone, Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Autosomal Recessive Omodysplasia
Rhizomelia, Short stature, Micrognathia, Abnormal morphology of the radius, Pterygium, Short nose... ORPHA:93329
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Larsen-Like Syndrome
Dental malocclusion, Flat face, Conductive hearing impairment, Joint dislocation, Wide anterior f... OMIM:608545
Keutel Syndrome
Underdeveloped nasal alae, Wide nose, Optic atrophy, Short stature, Calcification of cartilage, R... ORPHA:85202
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... ORPHA:90037
Andersen Cardiodysrhythmic Periodic Paralysis
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Short palm, T... OMIM:170390
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Epiphyseal dysplasia, Depressed nasal bridge, Low-set ears, Metaphyseal dysplasia, Cr... OMIM:614732
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Small hand, Wide nasal bridge, Short stature, Abnormal facial shape, Micrognathia, ... OMIM:270450
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Vertebral fusion, Microtia, Camptodactyly, Clinodactyly of the 5th finger, D... OMIM:227330
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Orofaciodigital Syndrome Xv
Flat face, Wide nasal bridge, Broad hallux, Duplication of phalanx of hallux, Anteverted nares, P... OMIM:617127
Acrodysostosis
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Hearing impairment, Short toe... ORPHA:950
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... ORPHA:90044
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Macrotia, Abnormality of the elbow, Short stature, Short nose, Carious teeth, Anteverted nares, B... ORPHA:2701
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Global Developmental Delay With Speech And Behavioral Abnormalities
Micrognathia, Hearing impairment, Recurrent otitis media, Triangular face OMIM:619243
Abruzzo-Erickson Syndrome
Short toe, Flat face, Conductive hearing impairment, Macrotia, Sensorineural hearing impairment, ... ORPHA:921
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short sternum, Retrognathia, Clinodactyly of the 4th toe, Short stature, Clinodactyly of the 5th ... OMIM:620113
15q26 overgrowth syndrome
Camptodactyly of finger, Tapered finger, Wide nasal bridge, Micrognathia, Prominent nose, Triangu... DECIPHER:81
Arthrogryposis, Distal, Type 2A
Wrist flexion contracture, Wide nasal bridge, Abnormal auditory evoked potentials, Elbow flexion ... OMIM:193700
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Periventricular Nodular Heterotopia 7
Knee flexion contracture, 1-4 toe syndactyly, 2-3 toe syndactyly, Sensorineural hearing impairmen... OMIM:617201
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Preaxial hand polydactyly, Conductive hearing impairment, Short st... ORPHA:79113
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Flat face, Absent nasal bridge, Short stature, Toe syndactyly, Intrauter... ORPHA:261211
Cebalid Syndrome
Flat face, Depressed nasal ridge, Short nose, Depressed nasal bridge, Abnormal pinna morphology, ... OMIM:618774
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Flat face, Epiphyseal stippling, Wide nasal bridge OMIM:614859
17P13.3 Microduplication Syndrome
Wide nose, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, Low-set ears ORPHA:217385
20Q13.33 Microdeletion Syndrome
Tapered finger, Prominent crus of helix, Hallux valgus, Short lower limbs, Hip dislocation, Trian... ORPHA:261311
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, Short nose, Toe clinodactyly, Depressed nasal bridge, Low-set, post... ORPHA:261120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... OMIM:267700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Macrotia, Sensorineural hearing impairment, Abnormal facial shape, Slender toe, Clinod... ORPHA:391408
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Triangular face, Large face, Depressed nasal bridge, Anteverted nares OMIM:614883
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Micrognathia, Fibular bowing, Enlarged joints, Posteriorly rotated ears,... ORPHA:1427
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Micrognathia, Clinodactyly of the 5th finger, Triangular face, Syn... ORPHA:397590
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Metaphyseal cupping, Short stature, Short long bone, Microtia, ... OMIM:613320
Short Syndrome
Abnormal mandible morphology, Sensorineural hearing impairment, Wide nasal bridge, Triangular fac... ORPHA:3163
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Conductive ... OMIM:156550
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Flat face, Hypoplastic pubic bone, Short long bone, Coarse facial features, Micrognathia, Delayed... ORPHA:93346
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Abnormal facial shape, Short nose, Sandal gap, Optic disc pallor, Posteriorly rota... OMIM:300887
Hennekam-Beemer Syndrome
Camptodactyly of finger, Wide nose, Delayed cranial suture closure, Conductive hearing impairment... ORPHA:2135
Steel Syndrome
Sensorineural hearing impairment, Coxa vara, Wide nasal bridge, Short stature, Clinodactyly of th... OMIM:615155
Sotos Syndrome
Genu valgum, Conductive hearing impairment, Macrotia, Mandibular prognathia, Enlarged naris, Adva... OMIM:117550
Yuan-Harel-Lupski Syndrome
Wide nose, Talipes valgus, Clinodactyly of the 5th finger, Triangular face, Decreased nerve condu... OMIM:616652
Ohdo Syndrome, X-Linked
Prominent nose, Wide nasal bridge, Microtia, Coarse facial features, Hip dysplasia, Micrognathia,... OMIM:300895
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Delayed eruption of teeth, Clinodactyly of the 5th finger, Short nose, Sy... OMIM:619736
Maxillonasal Dysplasia
Flat face, Mandibular prognathia, Abnormal nostril morphology, Depressed nasal ridge, Short nose,... ORPHA:1248
Emery-Nelson Syndrome
Camptodactyly of finger, Flat face, Interphalangeal thumb joint contracture, Abnormal thumb morph... ORPHA:1927
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Finger syndactyly, Short stature, Microtia, Mi... ORPHA:2145
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Flat face, Wide nasal bridge, Short stature, Camptodactyly, Round face, Growth delay, Abnormal pi... OMIM:617333
Bone Dysplasia, Lethal Holmgren Type
Hearing abnormality, Flat face, Joint dislocation, Depressed nasal ridge, Abnormality of the elbo... ORPHA:1842
Paganini-Miozzo Syndrome
Mandibular prognathia, Microtia, Triangular face, Low-set ears, Posteriorly rotated ears OMIM:301025
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... ORPHA:91547
Otodental Dysplasia
Enamel hypoplasia, Sensorineural hearing impairment, Delayed eruption of teeth, Pulp calcificatio... OMIM:166750
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Ankle fle... OMIM:617519
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Short nose, Delayed eruption of permanent teeth, Anteverted nares... OMIM:618506
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Abnormal facial shape, Micrognathia, Hearing impairment, Long face, Broad nasal tip, Depressed na... ORPHA:480907
Intellectual Developmental Disorder, X-Linked 30
Flat face, Macrotia, Short stature, Short nose, Anteverted nares, Prominent nasal bridge, Promine... OMIM:300558
3Q27.3 Microdeletion Syndrome
Small earlobe, Convex nasal ridge, Mandibular prognathia, Triangular face, Arachnodactyly, Low-se... ORPHA:397695
Grant Syndrome
Flat face, Joint dislocation, Short stature, Micrognathia, Facial asymmetry, Abnormality of the g... ORPHA:2097
Chung-Jansen Syndrome
Macrotia, Tapered finger, Hip dysplasia, Micrognathia, Clinodactyly of the 5th finger, Round face... OMIM:617991
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
EEG with centrotemporal focal spike waves, Continuous spike and waves during slow sleep, Short st... OMIM:245570
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Triangular face, Wormian bones, Congenital hip dislocation, Bulbous nose, Bow... OMIM:612940
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Patellar dislocation, Micrognathia, Elbow flexion contracture, Flat capital femora... ORPHA:536471
Infantile Sialic Acid Storage Disease
Congestive heart failure, Failure to thrive, Vacuolated lymphocytes, Splenomegaly, Conjugated hyp... OMIM:269920
Ohdo Syndrome
Wide nasal bridge, Microtia, Short stature, Micrognathia, Clinodactyly of the 5th finger, Short n... OMIM:249620
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Triangular face, Femoral bowing, Broad th... OMIM:619638
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Macrotia, Optic atrophy, Micrognathia, Short nose, Congenital hip dislocatio... ORPHA:3078
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping, Depressed nasal ridge, Rhizomelia, Short stature, Sh... OMIM:300863
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Macrotia, Tapered finger, Wide nasal bridge, Decreased motor nerve conduction... OMIM:218000
Fanconi Anemia, Complementation Group I
Absent thumb, Conductive hearing impairment, Short 1st metacarpal, Short stature, Hypoplasia of t... OMIM:609053
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Triangular face, Optic nerve hypoplasia ORPHA:65288
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Short foot, Finger syndactyly, Low-set ears, Toe syndactyly, Sho... ORPHA:93258
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:235555
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Thanatophoric Dysplasia
Flat face, Low-set ears, Hip dysplasia, Intrauterine growth retardation, Depressed nasal bridge, ... ORPHA:2655
Andersen-Tawil Syndrome
2-3 toe syndactyly, Small hand, Wide nasal bridge, Short stature, Abnormal facial shape, Microgna... ORPHA:37553
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Phosphoribosylpyrophosphate Synthetase Superactivity
Convex nasal ridge, Sensorineural hearing impairment, Short stature, Triangular face, Short nose,... OMIM:300661
Simosa Craniofacial Syndrome
Underdeveloped nasal alae, Hearing abnormality, Flat face, Wide nasal bridge, Long nose, Long fac... OMIM:182150
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Short long bone, Long nose, Triangular face, Bicoronal synostosis, Long face, ... OMIM:619184
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Triphalangeal thumb, Flat face, Finger syndactyly, Short stature, Microt... ORPHA:2994
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, 2-3 toe syndactyly, Wide nasal bridge, Triangular face, Depressed nasal bridge, Joi... OMIM:620098
Spondyloepiphyseal Dysplasia, Nishimura Type
Small hand, Short nose, Disproportionate short-limb short stature, Brachydactyly, Cone-shaped epi... OMIM:618618
Craniofacial-Deafness-Hand Syndrome
Flat face, Sensorineural hearing impairment, Narrow naris, Short nose, Hypoplasia of the maxilla,... OMIM:122880
Short Stature, Microcephaly, And Endocrine Dysfunction
Convex nasal ridge, Sensorineural hearing impairment, Short stature, Clinodactyly, Triangular fac... OMIM:616541
Silver-Russell Syndrome
Delayed cranial suture closure, Abnormality of the calcaneus, Short stature, Micrognathia, Clinod... ORPHA:813
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... OMIM:614613
Ruijs-Aalfs Syndrome
Short stature, Micrognathia, Elbow flexion contracture, Clinodactyly, Down-sloping shoulders, Tri... OMIM:616200
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Short foot, Short stature, Brachydactyly, Low-set ears, Mild short stature, Short palm... OMIM:618522
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Depressed nasal ridge, Rhizomel... ORPHA:163966
Perlman Syndrome
Retrognathia, Wide nasal bridge, Micrognathia, Round face, Short nose, Anteverted nares, Low-set ... ORPHA:2849
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Hip dysplasia, Micro... OMIM:614541
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Short stature, Del... ORPHA:73272
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Round face, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract i... OMIM:614069
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Micrognathia, Short nose, Depressed nasal bridge, Anteverted na... OMIM:614744
Weiss-Kruszka Syndrome
Horizontal crus of helix, Microtia, Clinodactyly of the 5th finger, Prominent metopic ridge, Shor... OMIM:618619
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Short stature, Coarse facial features, Abnormal auditory evoked... OMIM:619260
Burn-Mckeown Syndrome
Short stature, Wide nasal bridge, Short nose, Bilateral choanal atresia, Prominent nasal bridge ORPHA:1200
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Short stature, Coronal craniosynostosis, Microretrognathia, Triangular... OMIM:616294
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Flat face, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limited ... ORPHA:156728
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Flat face, Wide nasal bridge, Coarse facial features, Round face, Anteverted nares,... OMIM:615979
Silver-Russell Syndrome 1
Delayed cranial suture closure, Short middle phalanx of the 5th finger, Micrognathia, Clinodactyl... OMIM:180860
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Rhiny
Anteverted nares, Short nose OMIM:180360
Oculoskeletodental Syndrome
Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Short 5th finger, Sensorineural h... ORPHA:557003
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Short humerus, Short ... OMIM:250215
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Gastrointestinal hemorrhage, Portal hypert... ORPHA:64743
Distal Monosomy 3P
Short stature, Micrognathia, Clinodactyly of the 5th finger, Triangular face, Abnormal vestibulo-... ORPHA:1620
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Micrognathia, Optic nerve hypoplasia, Triangular face, Chronic otitis media, Long ... ORPHA:261250
Distal Monosomy 7Q36
Symphalangism affecting the phalanges of the hand, Flat face, Macrotia, Optic atrophy, Short stat... ORPHA:1636
Microcephaly-Capillary Malformation Syndrome
Wide nose, Optic atrophy, Short stature, Clinodactyly, Short nose, Hypoplasia of the maxilla, Hea... OMIM:614261
Meier-Gorlin Syndrome 3
Genu varum, Patellar hypoplasia, Patellar aplasia, Coxa vara, Microtia, Birth length less than 3r... OMIM:613803
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup... ORPHA:166272
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Microtia, Toe syndactyly, Micrognathia, Craniosynostosis, Radioulnar synostosis, Short nose, Shor... ORPHA:171839
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Short stature, Micrognathia, Clinodactyly of the 5th finger, Down-sloping shou... ORPHA:1974
Marbach-Rustad Progeroid Syndrome
Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Short stature, Micrognat... OMIM:619322
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Dermotrichic Syndrome
Macrotia, EEG abnormality, Aganglionic megacolon, Short nose, Depressed nasal bridge, Proportiona... ORPHA:99688
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... OMIM:614886
Miller-Dieker Syndrome
EEG abnormality, Clinodactyly of the 5th finger, Short nose, Growth delay, Anteverted nares ORPHA:531
Peho-Like Syndrome
Retrognathia, Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose OMIM:617507
Clark-Baraitser Syndrome
Clinodactyly, Short nose, Large earlobe, Depressed nasal bridge, Sandal gap, Anteverted nares, Lo... OMIM:617752
Noonan Syndrome 14
Short stature, Coarse facial features, Clinodactyly, Prominent nasolabial fold, Triangular face, ... OMIM:619745
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... OMIM:603553
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ear, Cutaneous finger syndactyly, Triangular face, Cutaneous syndactyly of toes OMIM:225060
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Triangular shaped distal phalanges of the hand, Slender long bone, Micrognathia... ORPHA:73230
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sensorineural hearing impairment, Tapered finger, Finger joint hypermobility, Hip dysplasia, Inte... ORPHA:544503
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tapered finger, Interphalangeal thumb joint contracture, Abnormal autonomic nervous system physio... OMIM:613870
Tolchin-Le Caignec Syndrome
Macrotia, Sensorineural hearing impairment, Prominent nose, Wide nasal bridge, Micrognathia, Abno... OMIM:618971
Lethal Kniest-Like Dysplasia
Flat face, Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Mesomelic/rhizom... ORPHA:2347
Partington Syndrome
EEG abnormality, Triangular face ORPHA:94083
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Failure to thrive, Extra... ORPHA:79303
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Macrotia, Micrognathia, Intrauterine growth r... ORPHA:2083
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Widely patent coronal suture, Narrow greater sciatic no... OMIM:228520
Cutis Laxa, Autosomal Recessive, Type Iiib
Underdeveloped nasal alae, Narrow nasal ridge, Elbow flexion contracture, Hip dislocation, Triang... OMIM:614438
Larsen Syndrome
Flat face, Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Short statur... ORPHA:503
Al-Raqad Syndrome
Flat face, Short nose, Sandal gap, Brachydactyly, Low-set ears OMIM:616459
Kbg Syndrome
Underdeveloped nasal alae, Vertebral fusion, Macrotia, Short stature, Clinodactyly of the 5th fin... OMIM:148050
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Symphalangism affecting the phalanges of the hand, Prominent nose, Wide nasal bridge, Short statu... ORPHA:1292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Hearing impairment, Wide nasal bridge, Short nose OMIM:614207
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Coxa valga, Optic atrophy, Short stature, Coarse facial features, Hip dysplasia, Micrognathia, In... OMIM:619833
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Short stature, Slender long bone, Short nose, Spina bifida occulta, Cubitus valgus... ORPHA:1185
Kniest Dysplasia
Dumbbell-shaped long bone, Round face, Enlarged joints, Delayed patellar ossification, Disproport... ORPHA:485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Abnormal facial shape, Facial asymmetry, Triangular face, Short nose, Con... ORPHA:457279
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Flat face, Sensorineural hearing impairment, Elbow flexion contracture, Short nose, Contracture o... OMIM:612394
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Clinodactyly of the 5th finger, Short nose, Optic nerve hypoplasia, Depressed ... OMIM:618828
Marshall Syndrome
Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Recurrent otitis media, Short nose,... OMIM:154780
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Flat face, Sensorineural hearing impairment, Patellar hypoplasia, Depressed nasal r... ORPHA:464288
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Microtia, Absent nasal septal cartilage, Midline ... ORPHA:1134
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Transaldolase Deficiency
Wide anterior fontanel, Triangular face, Depressed nasal bridge, Low-set ears, Intrauterine growt... OMIM:606003
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Flat face, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Fla... OMIM:608728
Nicolaides-Baraitser Syndrome
Short phalanx of finger, Hallux valgus, Enlarged joints, Posteriorly rotated ears, Triangular fac... OMIM:601358
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Failu... OMIM:614300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Short 5th metacarpal, Sensorineural hearing impairment, Short stature, L... OMIM:215150
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short nose, Brachy... OMIM:601224
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Partial Deletion Of The Short Arm Of Chromosome 7
Aplasia of the distal phalanx of the 5th finger, Retrognathia, Contracture of thumb, Small hand, ... ORPHA:261911
Chromosome 19Q13.11 Deletion Syndrome, Distal
Underdeveloped nasal alae, Retrognathia, Macrotia, Wide nasal bridge, Cutaneous finger syndactyly... OMIM:613026
Cenani-Lenz Syndrome
Convex nasal ridge, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radiu... ORPHA:3258
Thanatophoric Dysplasia Type 1
Flat face, Wide anterior fontanel, Hypoplastic ilia, Short femur, Femoral bowing, Hearing impairm... ORPHA:1860
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Marshall-Smith Syndrome
Bilateral conductive hearing impairment, Hallux valgus, Cholesteatoma, Optic nerve hypoplasia, Sl... OMIM:602535
Chromosome 6Q11-Q14 Deletion Syndrome
Short stature, Micrognathia, Short nose, Broad nasal tip, Low-set ears, Prominent nasal bridge OMIM:613544
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Microtia, Severe sensorineural hearing impairment, Short nose, Spina bifida occulta,... ORPHA:2983
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Depressed nas... ORPHA:1522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Tapered finger, EEG abnormality, Camptodactyly, Round face, Broad hallux, Posteriorly rotated ear... OMIM:301044
Phosphoribosylaminoimidazole Carboxylase Deficiency
Flat face, Choanal stenosis, Short stature, Clinodactyly of the 5th finger, Short nose, Bilateral... OMIM:619859
Microcephaly-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Short stature, Micrognathia, Facial asymmetry, Low-set ears, Cu... ORPHA:2533
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Abnormal facial shape, Long toe, Slender finger, Long fingers, Hearing impairment, Postnatal grow... OMIM:613355
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Microtia, Hip dysplasia, Preaxial foot... ORPHA:1988
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Short nose, Large earlobe, ... OMIM:615716
Thoracomelic Dysplasia
Genu valgum, Flat face, Round face, Abnormal pelvic girdle bone morphology, Elbow dislocation, Di... ORPHA:1803
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Short stature, Triangular face, Narrow face, Long face, Growth delay, Cupped ear, Protruding ear ORPHA:93947
Baraitser-Winter Syndrome 1
Retrognathia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Short nose, Dup... OMIM:243310
Trisomy 12P
Abnormal antihelix morphology, Flat face, Wide nasal bridge, Short stature, Micrognathia, Clinoda... ORPHA:1699
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, 2-3 toe syndactyly, Abnormal facial shape, Triangular face, Decreased nerve conduction... ORPHA:477817
Halperin-Birk Syndrome
Optic atrophy, Micrognathia, Hip dislocation, Triangular face, Intrauterine growth retardation, H... OMIM:618651
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Hip dislocation, Roun... OMIM:615777
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia ORPHA:90036
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Mandibular prognathia, Hypoplastic helices, EEG abnormality, Abnormality of the ear... ORPHA:391372
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Micrognathia, Triangular face, Rocker bottom foot, Low-set ears, Pos... OMIM:606851
Noonan Syndrome With Multiple Lentigines
Sensorineural hearing impairment, Wide nasal bridge, Short stature, Severe sensorineural hearing ... ORPHA:500
Acrocraniofacial Dysostosis
Conductive hearing impairment, Coxa valga, Tapered finger, Abnormality of the middle ear ossicles... ORPHA:949
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Delayed cranial suture closure, Flat face, Conductive hearing impairment, Low-set e... ORPHA:2780
Saul-Wilson Syndrome
Convex nasal ridge, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epiphyses, Sen... OMIM:618150
Bruck Syndrome
Short stature, Pterygium, Triangular face, Bowing of the long bones, Wormian bones ORPHA:2771
Dubowitz Syndrome
Wide nasal bridge, Delayed eruption of teeth, Short stature, Micrognathia, Clinodactyly of the 5t... OMIM:223370
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
Cockayne Syndrome B
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Sensorineural hearing impairm... OMIM:133540
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration OMIM:214950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia, Obesity OMIM:609734
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flat face, Fractured radius, Wide nasal bridge, Micrognathia, Short femur, Adducted thumb, Large ... OMIM:616897
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
2-3 toe syndactyly, Clinodactyly of the 5th finger, Short nose, Depressed nasal bridge, Anteverte... OMIM:613443
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... ORPHA:3250
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Tapered finger, Optic atrophy, Micrognathia, Camptodactyly, Overlapping toe, Cupped ear, Hearing ... OMIM:309590
Edinburgh Malformation Syndrome
Micrognathia, Ulnar deviation of finger, Short nose, Slender finger, Anteverted nares, Low-set ea... ORPHA:1895
Achondrogenesis Type 1B
Flat face, Micrognathia, Short nose, Disproportionate short stature, Severe short stature, Anteve... ORPHA:93298
Even-Plus Syndrome
Depressed nasal ridge, Microtia, Short nose, Epiphyseal dysplasia, Severe short stature, Dysplasi... OMIM:616854
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Depressed nasal bridge, Pos... ORPHA:2143
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Flat face, Mandibular prognathia, Finger synda... ORPHA:710
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Hammertoe, Abnormal cranial nerve morphology, Prolonge... OMIM:601596
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Short statu... OMIM:616331
Distal Trisomy 5Q
Absent thumb, Macrotia, Flat face, Short stature, Hypoplasia of the radius, Micrognathia, Cranios... ORPHA:96097
Congenital Disorder Of Glycosylation, Type Ii
Flat face, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Hypsarrhythmia, Lo... OMIM:607906
Leopard Syndrome 1
Mandibular prognathia, Sensorineural hearing impairment, Depressed nasal ridge, Hyposmia, Limited... OMIM:151100
Fetal Hydantoin Syndrome
Triphalangeal thumb, Hearing abnormality, Depressed nasal ridge, Short stature, Short nose, Abnor... ORPHA:1912
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microtia, Micrognathi... ORPHA:2547
Sponastrime Dysplasia
Hip subluxation, Aplasia of the nasal bone, Flat capital femoral epiphysis, Hip dislocation, Ivor... ORPHA:93357
Chromosome 14Q11-Q22 Deletion Syndrome
Hip subluxation, Wide nasal bridge, Optic atrophy, Micrognathia, Prominent metopic ridge, Triangu... OMIM:613457
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Conductive hearing impairment, Short 5th metacarpal, Short stature, Clinodactyly of th... OMIM:617877
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... ORPHA:542323
12Q14 Microdeletion Syndrome
Wide nose, Abnormal nostril morphology, Short stature, Micrognathia, Clinodactyly of the 5th fing... ORPHA:94063
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Abnormal antihelix morphology, Flat face, Macrotia, Underdeveloped nasal... ORPHA:1968
Trisomy 10P
Abnormal auditory evoked potentials, Micrognathia, Camptodactyly, Posteriorly rotated ears, Short... ORPHA:171929
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Disproportionate short-trunk short stature, Vertebral fusion, Capitate-h... OMIM:272460
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... OMIM:611881
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Natal tooth, Micrognathia, Interictal epileptiform activ... OMIM:617802
Marshall Syndrome
Flat face, Genu valgum, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micro... ORPHA:560
17Q24.2 Microdeletion Syndrome
Upper limb undergrowth, Otosclerosis, Wide nasal bridge, Microtia, Micrognathia, Abnormality of t... ORPHA:529962
Mietens Syndrome
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... ORPHA:2557
Distal Monosomy 15Q
Genu valgum, Small hand, Low-set ears, Short stature, Coarse facial features, Micrognathia, Short... ORPHA:1596
Fetal Trimethadione Syndrome
Micrognathia, Short nose, Depressed nasal bridge, Intrauterine growth retardation, Low-set ears, ... ORPHA:1913
Gaucher Disease, Perinatal Lethal
Retrognathia, Microtia, Micrognathia, Short nose, Triangular face, Depressed nasal bridge, Anteve... OMIM:608013
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Wide nasal bridge, Rhizo-meso-acromelic limb shortening, Round face, Sho... OMIM:611717
Tetrasomy 5P
Flat face, Wide anterior fontanel, Wide nasal bridge, Coarse facial features, Micrognathia, Clino... ORPHA:3309
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Wiedemann-Steiner Syndrome
Short phalanx of finger, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Wide nasal bridge,... OMIM:605130
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Con... ORPHA:794
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short femoral neck, Short metacarpal, Microtia, Short stature, Narrow pelvis bone, Carpal bone hy... OMIM:616723
Marshall-Smith Syndrome
Retrognathia, Conductive hearing impairment, Optic atrophy, Craniosynostosis, Slender long bone, ... ORPHA:561
Trisomy 18
Camptodactyly of finger, Pointed helix, Short stature, Narrow pelvis bone, Microretrognathia, Tri... ORPHA:3380
16P12.1P12.3 Triplication Syndrome
Retrognathia, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, Coarse facial ... ORPHA:485405
Lethal Congenital Contracture Syndrome 9
Micrognathia, Triangular face, Adducted thumb, Depressed nasal bridge, Anteverted nares, Low-set ... OMIM:616503
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Flat face, Anterior bowing of long bones, Coxa valga, Coxa vara, Hip c... OMIM:255800
Achondrogenesis Type 1A
Flat face, Short foot, Micrognathia, Short nose, Severe short stature, Anteverted nares, Short palm ORPHA:93299
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal br... ORPHA:1514
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Failure to thrive, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Kyphomelic Dysplasia
Flat face, Micrognathia, Flat acetabular roof, Disproportionate short stature, Abnormal metaphysi... ORPHA:1801
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Preaxial hand polydactyly, Short stature, Microtia, Micrognathia, ... OMIM:610536
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Hematochezia, Splenomegaly OMIM:613812
Craniofacioskeletal Syndrome
Short foot, Small hand, Microtia, Short stature, Micrognathia, Clinodactyly of the 5th finger, Tr... OMIM:300712
Wolcott-Rallison Syndrome
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defi... ORPHA:1667
Thanatophoric Dysplasia Type 2
Flat face, Short stature, Depressed nasal bridge, Brachydactyly, Abnormal metaphysis morphology, ... ORPHA:93274
Smith-Magenis Syndrome
Conductive hearing impairment, Mandibular prognathia, Delayed eruption of primary teeth, EEG abno... ORPHA:819
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Underdeveloped nasal alae, Short stature, Delayed eruption of teeth, Clinodactyly, Intrauterine g... OMIM:615866
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Broad nasal tip, Short nose OMIM:613670
Schimke Immunoosseous Dysplasia
Wide nasal bridge, Disproportionate short-trunk short stature, Triangular face, Depressed nasal b... OMIM:242900
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Flat face, Rhizomelia, Short stature, Hypoplasia of the radius, Slender long bone, Micrognathia, ... OMIM:602613
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Macrotia, Prominent nose, Narrow nasal ridge, Joint contr... ORPHA:363528
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Underdeveloped nasal alae, Metaphyseal irregularity, Genu valgum, Tapered finger, Sensorineural h... OMIM:616007
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Macrotia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micrognathia, Oval ... OMIM:300749
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Delayed closure of the anterior fontanelle, Abnormal facial shape, Micrognathia, Clinodactyly, Cl... ORPHA:96182
Menke-Hennekam Syndrome 2
Flat face, Cutaneous syndactyly of toes, Micrognathia, Overlapping toe, Narrow nasal bridge, Depr... OMIM:618333
Feingold Syndrome 1
2-3 toe syndactyly, Short toe, Wide nasal bridge, Micrognathia, Depressed nasal tip, Facial asymm... OMIM:164280
Autosomal Dominant Omodysplasia
Patellar dislocation, Short 1st metacarpal, Rhizomelia, Micrognathia, Short nose, Elbow dislocati... ORPHA:93328
Branchiootic Syndrome 1
Retrognathia, Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of ... OMIM:602588
Nizon-Isidor Syndrome
Prominent nasal bridge, Triangular face, Depressed nasal bridge, Anteverted nares, Bulbous nose, ... OMIM:618872
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Retrognathia, Macrotia, Finger joint hypermobility, Short stature, Triangular face, Depressed nas... OMIM:613563
Floating-Harbor Syndrome
Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Short middle ... OMIM:136140
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Nasal congestion, Stippling of the epiphyses of the distal... ORPHA:79345
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Joubert Syndrome 27
Polydactyly, Triangular face OMIM:617120
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Coarse facial features, Mandibular prognathia, Short nose ORPHA:2429
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Low-set ears, Flat face OMIM:616994
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, EEG with burst suppression, Coarse facial features, Triangular face, Low-set ears,... OMIM:617260
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Campomelic Dysplasia
Flat face, Short stature, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocati... ORPHA:140
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Flat face, Wide nasal bridge, Microtia, Micrognathia, Round face, Recurrent otitis media, Antever... OMIM:602562
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Flat face, Short femoral neck, Limited elbow movement, Short... ORPHA:94068
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:1307
Apert Syndrome
Morphological abnormality of the semicircular canal, Aplasia/Hypoplasia of the thumb, Conductive ... ORPHA:87
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flat face, Wide nasal bridge, Short long bone, Micrognathia, Pterygium, Severe short stature, Dis... OMIM:224410
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... ORPHA:464321
Achondrogenesis
Flat face, Micrognathia, Short nose, Severe short stature, Anteverted nares ORPHA:932
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Dentinogenesis imperfecta, Coxa vara, Short stature, Triangular face OMIM:610968
Tetrasomy 18P
Low-set, posteriorly rotated ears, Facial asymmetry, Short nose ORPHA:3307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1