Gene Summary

Name:
DNA methyltransferase 3B
Synonyms:
N/A

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
cleft palate Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Dnmt3bem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Dnmt3bem1(IMPC)Mbp HET E15.5 0.00
hemorrhage Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
edema Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Dnmt3b 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 associated to Dnmt3b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Hypertelorism, Reduced natural killer cell co... OMIM:242860
Icf Syndrome
Hypertelorism, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Ane... ORPHA:2268
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269

The table below shows human diseases predicted to be associated to Dnmt3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Hypertelorism, Decreased proportion of CD8-positive T cells, Inc... OMIM:617241
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia, Cleft palate OMIM:616570
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood, Agammaglobulinemia OMIM:200900
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Micrognathia, Short neck, Anteverted nares ORPHA:2015
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Swollen lip, Facial edema OMIM:619363
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Dental malocclusion, Vertebral cleft... OMIM:155050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Trigonocephaly 2
Metopic synostosis, Hypertelorism, Trigonocephaly OMIM:614485
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Frontal bossing, Deeply set eye, Death in infancy, Death in childhood OMIM:619064
Acrocallosal Syndrome
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Prominent occiput ORPHA:36
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Rhizomelic Syndrome
Micrognathia, Wide anterior fontanel OMIM:268250
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hypertelorism, Frontal bossing, Dolichocephaly, Micrognathia ORPHA:1538
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Wormian bones, Hypertelorism, Wide anterior fontanel, Frontal bossing, Micrognath... OMIM:614541
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Dyssegmental Dysplasia With Glaucoma
Dolichocephaly, Wide anterior fontanel, Proptosis OMIM:601561
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Midface retrusion, Skull ... OMIM:601853
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Saul-Wilson Syndrome
Micrognathia, Neutropenia, Proptosis, Wide anterior fontanel OMIM:618150
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Oral cleft, Bilateral microphthalmos, Anophthalmia OMIM:611638
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Decreased circulating T4 level, Abnormality of thyroid physiology, Reduce... ORPHA:95715
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Midface retrusion, Micrognathia, Hypertelorism OMIM:611913
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Growth delay, Microphthalmia, Short stature, High palate ORPHA:2528
Smith-Kingsmore Syndrome
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Frontal bossing, Midface retrusion, Thromb... OMIM:616638
Nanophthalmos 4
Microphthalmia OMIM:615972
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism, Wide anterior fontanel OMIM:275100
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Larsen-Like Syndrome
Hypertelorism, Wide anterior fontanel, Frontal bossing, Brachycephaly, Dental malocclusion OMIM:608545
Maxillonasal Dysplasia
Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Short columella, Ab... ORPHA:1248
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Gillessen-Kaesbach-Nishimura Syndrome
Hypertelorism, Wide anterior fontanel, Proptosis, Brachycephaly, Retrognathia, Micrognathia OMIM:263210
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Proptosis, Obtuse angle of mandible, Parie... ORPHA:85184
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Death in childhood, Splenomegaly, Lymphadenopathy OMIM:619164
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypertelorism, Wide anterior fontanel, Frontal bossing, Anterior plagiocephaly, Abnormality of cr... ORPHA:163649
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Acrofacial Dysostosis Syndrome Of Rodriguez
Deeply set eye, Micrognathia, Hypertelorism, Wide anterior fontanel OMIM:201170
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Sweeney-Cox Syndrome
Hypertelorism, Wide anterior fontanel, Midface retrusion, Bilateral cryptorchidism, Asplenia, Bra... OMIM:617746
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mmep Syndrome
Oral cleft, Microphthalmia, Median cleft lip ORPHA:3434
2q33.1 deletion syndrome
High palate, Short stature, Cleft palate DECIPHER:51
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Death in infancy, Micrognathia OMIM:619135
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short neck, Short nose, Depressed nasal ridge, Retrognathia, Micrognathia, An... ORPHA:1832
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Hypertelorism, Wide anterior fontanel, Proptosis OMIM:239710
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Donnai-Barrow Syndrome
Hypertelorism, Wide anterior fontanel, Proptosis ORPHA:2143
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate, Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Osteogenesis Imperfecta, Type Iii
Wormian bones, Wide anterior fontanel, Frontal bossing, Platybasia, Decreased calvarial ossificat... OMIM:259420
Lissencephaly, X-Linked, 2
Decreased testicular size, Micrognathia, Wide anterior fontanel OMIM:300215
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Six2-Related Frontonasal Dysplasia
Hypertelorism, Wide anterior fontanel, Frontal bossing, Premature posterior fontanelle closure, M... ORPHA:488437
Brachydactyly, Type B1
Delayed cranial suture closure, Wide anterior fontanel, Delayed eruption of permanent teeth OMIM:113000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Hypertelorism, Thickened calvaria, Broad jaw, Brachycephaly ORPHA:178377
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Dolichocephaly, Wide anterior fontanel ORPHA:44
17Q21.31 Microduplication Syndrome
Micrognathia, Anteverted nares, Short nose ORPHA:217340
20P13 Microdeletion Syndrome
Deeply set eye, Hypertelorism, Wide anterior fontanel ORPHA:313781
Bartsocas-Papas Syndrome 2
Micrognathia, Prominent occiput, Wide anterior fontanel OMIM:619339
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Patent ductus arteriosus, Cho... OMIM:614886
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Short nose, Micrognathia, Depressed nasal bridge ORPHA:1695
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Large fontanelles OMIM:614883
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Dolichocephaly, Patent ductus arteriosus, Wide anterior fontanel OMIM:613623
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Familial Scaphocephaly Syndrome, Mcgillivray Type
Hypertelorism, Midface retrusion, Mandibular prognathia, Trigonocephaly, Dolichocephaly ORPHA:168624
2Q24 Microdeletion Syndrome
Short philtrum, Growth delay, Microphthalmia, Cleft palate, Abnormal oral frenulum morphology ORPHA:1617
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Wide anterior fontanel, Frontal bossing, Large posterior fonta... ORPHA:85199
Microphthalmia, Syndromic 8
Oral cleft, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary central incisors OMIM:601349
Transaldolase Deficiency
Wide anterior fontanel, Patent ductus arteriosus, Pancytopenia, Thrombocytopenia, Anemia, Splenom... OMIM:606003
Congenital Disorder Of Glycosylation, Type Ik
Hypertelorism, Large fontanelles, Death in infancy, Splenomegaly, Micrognathia OMIM:608540
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Rhiny
Anteverted nares, Short nose OMIM:180360
Rhizomelic Syndrome, Urbach Type
Micrognathia, Wide anterior fontanel ORPHA:3098
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Microphthalmia, Anophthalmia OMIM:221950
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Recurrent mandibular subluxat... OMIM:225410
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Micrognathia, Short nose ORPHA:2598
Xk Aprosencephaly Syndrome
Polyhydramnios, Narrow mouth, Anal atresia, Microphthalmia ORPHA:3469
Heart And Brain Malformation Syndrome
Prominent occiput, Hypertelorism, Wide anterior fontanel, Prominent metopic ridge OMIM:616920
Seckel Syndrome 2
Growth delay, Heart murmur, Microglossia, Microphthalmia, Short stature, Microdontia OMIM:606744
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Short nose, Beaking of vertebral bodies, Short ribs, Thoracic platyspondyly... OMIM:618961
Zellweger Syndrome
Cryptorchidism, Wide anterior fontanel, Primary adrenal insufficiency, Flat occiput, Death in inf... ORPHA:912
Gapo Syndrome
Hypertelorism, Wide anterior fontanel, Frontal bossing, Breast hypoplasia, Hypoplastic nipples, D... OMIM:230740
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Wide anterior fontanel, Frontal bossing, Midface retrusion, Proptosi... OMIM:207410
Marden-Walker Syndrome
Cryptorchidism, Micrognathia, Hypertelorism, Wide anterior fontanel OMIM:248700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Developmental And Epileptic Encephalopathy 73
Scoliosis, Short nose, Narrow nasal bridge OMIM:618379
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Mandibular prognathia, Short nose, Kyphosis ORPHA:2429
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Short nose, Abnormal form of the vertebral bodies ORPHA:2370
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:609054
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Van Maldergem Syndrome 2
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Midface retrusion, Wide cranial sutures, D... OMIM:615546
Donnai-Barrow Syndrome
Midface retrusion, Hypertelorism, Wide anterior fontanel, Proptosis OMIM:222448
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Frontal bossing, Cloverleaf skull, Patent ductus arteriosus, Proptosis ORPHA:1860
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Patent ductus arteriosus, Micrognathia OMIM:217980
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell function, B lymph... ORPHA:277
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia OMIM:613885
Fibrochondrogenesis 1
Wide anterior fontanel, Frontal bossing, Stillbirth, Widely patent coronal suture, Proptosis, Wid... OMIM:228520
Anauxetic Dysplasia 3
Midface retrusion, Retrognathia, Wide anterior fontanel, Plagiocephaly OMIM:618853
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypertelorism, Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Decreased cal... OMIM:617925
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Frontal bossing, Dolicho... OMIM:182212
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:2117
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Short nose, Abnormal form of the vertebral bodies, Mandibular prognathia, Depresse... ORPHA:2831
Sener Syndrome
Hypertelorism, Wide anterior fontanel, Natal tooth, Patent ductus arteriosus, Delayed eruption of... OMIM:606156
Craniometadiaphyseal Dysplasia
Wormian bones, Carious teeth, Wide anterior fontanel, Mandibular prognathia, Natal tooth OMIM:269300
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Delayed closure of the anterior fontanelle, Wormian bones, Hypertelorism, Wide an... OMIM:304120
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Hypertelorism, Lambdoidal craniosynostosis, Sagittal... OMIM:614188
Progeroid Syndrome, Petty Type
Mandibular prognathia, Wide anterior fontanel ORPHA:2963
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Micrognathia, Short nose OMIM:617061
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Microphthalmia, Tooth agenesis ORPHA:1135
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Short nose, Wide nasal bridge ORPHA:1200
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Pulmonary artery stenosis, Abnormal bronchus morphology, Atlantoaxial ins... ORPHA:79345
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Lymphedema, Hypert... ORPHA:1598
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Nanophthalmos
Microphthalmia ORPHA:35612
Cutis Laxa, Autosomal Recessive, Type Iia
Midface retrusion, Carious teeth, Wide anterior fontanel, Frontal bossing OMIM:219200
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Fibrochondrogenesis
Hypertelorism, Wide anterior fontanel, Proptosis, Plagiocephaly ORPHA:2021
Van Maldergem Syndrome 1
Hypertelorism, Wide anterior fontanel, Midface retrusion, Wide cranial sutures, Dental malocclusi... OMIM:601390
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 13
Diastema, Microphthalmia, Short stature OMIM:300915
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Wide nasal bridge OMIM:616430
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Midface retrusion, Wide anterior fontanel, Frontal bossing OMIM:616482
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Wide anterior fontanel, Hepatic periportal necrosis OMIM:231680
Fibrochondrogenesis 2
Platyspondyly, Short nose, Short ribs, Micrognathia, Anteverted nares OMIM:614524
17Q12 Microduplication Syndrome
Polyhydramnios, Tracheoesophageal fistula, Microphthalmia, Cleft palate ORPHA:261272
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Dentinogenesis imperfecta, Retro... ORPHA:166272
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Acromicric Dysplasia
Short nose, Ovoid vertebral bodies, Anteverted nares, Bulbous nose ORPHA:969
Cofs Syndrome
Intrauterine growth retardation, Everted lower lip vermilion, Microphthalmia, Short stature ORPHA:1466
Cat-Eye Syndrome
Intrauterine growth retardation, Anal atresia, Microphthalmia, Short stature ORPHA:195
3Mc Syndrome 1
Hypertelorism, Lambdoidal craniosynostosis, Wide anterior fontanel, Patent ductus arteriosus, Sku... OMIM:257920
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Baker-Gordon Syndrome
Scoliosis, Short nose, Prominent nasal tip OMIM:618218
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Postnatal growth retardation, Heart murmur, Microphthalmia, Cleft palate, In... ORPHA:2728
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology, Edema, Periorbital edema, Angioedema, Syncope ORPHA:97230
Tetrasomy 5P
Midface retrusion, Micrognathia, Hypertelorism, Wide anterior fontanel ORPHA:3309
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
17P13.3 Microduplication Syndrome
Short neck, Short nose, Wide nose ORPHA:217385
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Achondrogenesis Type 1B
Short neck, Short nose, Aplasia/Hypoplasia of the lungs, Abnormality of the ribs, Micrognathia, A... ORPHA:93298
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Frontal bossing, Midface retrusion, Plagiocephaly, Dolichocephaly, Supern... ORPHA:457279
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Frank-Ter Haar Syndrome
Wormian bones, Hypertelorism, Wide anterior fontanel, Flat occiput, Proptosis, Delayed cranial su... OMIM:249420
Dubowitz Syndrome
Cryptorchidism, Delayed eruption of teeth, Craniosynostosis, Hypertelorism, Wide anterior fontane... ORPHA:235
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Short nose, Anosmia, Short nasal septum, Depressed nasal bridge OMIM:302950
Craniolenticulosutural Dysplasia
Cryptorchidism, Carious teeth, Delayed eruption of teeth, Hypertelorism, Hypoplasia of teeth, Del... OMIM:607812
Acrocephalopolydactyly
Short neck, Short nose, Depressed nasal ridge ORPHA:221054
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Coronal clef... ORPHA:1458
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Thin upper l... ORPHA:487825
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Delayed cranial suture closure, Wide anterior fontanel, Fron... ORPHA:357058
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Microphthalm... OMIM:602342
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Cupped ribs, Anteverted nares, Short nose ORPHA:168549
Meier-Gorlin Syndrome 7
Cryptorchidism, Craniosynostosis, Wide anterior fontanel, Proptosis, Sagittal craniosynostosis OMIM:617063
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Stickler Syndrome Type 1
Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Hypoplasia of the maxilla ORPHA:90653
Verheij Syndrome
Scoliosis, Short nose, Hemivertebrae, Wide nasal bridge, Vertebral fusion, Short neck OMIM:615583
Mental Retardation With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip OMIM:613670
Achondrogenesis Type 1A
Short neck, Short nose, Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Micrognathia, An... ORPHA:93299
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia, Cleft upper lip, Cleft palate OMIM:612530
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Distal Trisomy 18Q
Carious teeth, Short neck, Short nose, Anteverted nares, Choanal atresia, Micrognathia, Prominent... ORPHA:1716
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Pancreatic cysts, Sagittal craniosynostosis, Congenital hypothyroidism, P... OMIM:610199
Achondrogenesis
Short nose, Micrognathia, Aplasia/Hypoplasia of the lungs, Short neck, Anteverted nares ORPHA:932
Miller-Dieker Syndrome
Anteverted nares, Short nose, Sacral dimple ORPHA:531
Kniest-Like Dysplasia, Lethal
Hypertelorism, Patent ductus arteriosus, Wide anterior fontanel OMIM:245190
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Bainbridge-Ropers Syndrome
Scoliosis, Short nose, Anteverted nares, Broad nasal tip, Prominent nasal bridge OMIM:615485
Baraitser-Winter Syndrome 2
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia, Short stature OMIM:614583
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Frontal bossing, Midface retrusion, Propto... OMIM:268310
14Q11.2 Microdeletion Syndrome
Micrognathia, Short nose, Depressed nasal bridge ORPHA:261120
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Opitz-Kaveggia Syndrome
Cryptorchidism, Delayed closure of the anterior fontanelle, Hypertelorism, Wide anterior fontanel... OMIM:305450
Peroxisome Biogenesis Disorder 13A (Zellweger)
Delayed closure of the anterior fontanelle, Large fontanelles, Flat occiput, Dolichocephaly, Micr... OMIM:614887
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Campomelic Dysplasia
Micrognathia, Hypertelorism, Wide anterior fontanel OMIM:114290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Oral cleft, Microphthalmia ORPHA:324416
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla OMIM:122880
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Umbilical hernia, Congestive heart failure, Edema, Microphthalmia, Short stature, ... ORPHA:2505
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Hydrolethalus
Polyhydramnios, Anophthalmia, Gingival cleft, Unilateral cleft lip, Microphthalmia, Cleft palate,... ORPHA:2189
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Tooth agenesis, Congestive heart failure, Edema, Dilated cardiomyopathy OMIM:605676
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Short nose, Wide nasal bridge, Micrognathia, Anteverted nares OMIM:618577
Robinow Syndrome, Autosomal Dominant 2
Short nose, Sacral dimple, Kyphoscoliosis, Dental malocclusion, Micrognathia, Anteverted nares, D... OMIM:616331
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Depressed nasal ridge, Aplasia/Hypoplasia involving the no... ORPHA:1529
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Hypertelorism, Lambdoidal craniosynostosis, Frontal bossi... OMIM:600775
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Osteogenesis Imperfecta, Type Vii
Wormian bones, Wide anterior fontanel, Decreased calvarial ossification, Death in infancy, Propto... OMIM:610682
Achondroplasia
Parietal bossing, Wide anterior fontanel, Frontal bossing ORPHA:15
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Wide anterior fontanel, Hepatic periportal necrosis ORPHA:26791
Acrocallosal Syndrome
Cryptorchidism, Hypertelorism, Hypoplasia of teeth, Wide anterior fontanel, Frontal bossing, Micr... OMIM:200990
Oculocerebrocutaneous Syndrome
Cleft palate, Microphthalmia, Anophthalmia OMIM:164180
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Scoliosis, Slender nose, Micrognathia, Short nose OMIM:615419
Fetal Alcohol Syndrome
Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Microphthalmia, Short stature, ... ORPHA:1915
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hypertelorism, Midface retrusion, Proptosis, Brachycephaly OMIM:612247
Osteogenesis Imperfecta, Type Viii
Wormian bones, Delayed cranial suture closure, Wide anterior fontanel, Proptosis OMIM:610915
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Short neck, Anteverted nares... OMIM:300209
Dermotrichic Syndrome
Short nose, Abnormal vertebral morphology, Depressed nasal bridge ORPHA:99688
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Solitary Median Maxillary Central Incisor
Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cleft upper lip, Anop... OMIM:147250
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Polyhydramnios, Cleft palate OMIM:241850
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Abnormal form of the vertebral bodies, Mandibular prognathia, Sacral dimple, Abnormal... ORPHA:1327
Oculopalatocerebral Syndrome
Microphthalmia, Short stature, Cleft palate OMIM:257910
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Trisomy 13
Long philtrum, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnormality of the dentition, Cle... ORPHA:3378
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Fontaine Progeroid Syndrome
Cryptorchidism, Craniosynostosis, Absent nipple, Hypertelorism, Wide anterior fontanel, Midface r... OMIM:612289
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Mental Retardation, Autosomal Dominant 20
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Pallister-Hall-Like Syndrome
Short nose, Short ribs, Pulmonary hypoplasia, Micrognathia, Depressed nasal bridge OMIM:241800
Congenital Toxoplasmosis
Intrauterine growth retardation, Ascites, Microphthalmia ORPHA:858
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Meckel Syndrome, Type 2
Meningocele, Intrauterine growth retardation, Microphthalmia, Cleft palate OMIM:603194
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Carious teeth, Delayed closure of the anterior fontanelle, Hypertelorism, Dentinog... OMIM:604922
Harel-Yoon Syndrome
Scoliosis, Mandibular prognathia, Micrognathia, Short nose OMIM:617183
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
Femoral-Facial Syndrome
Scoliosis, Short nose, Rib fusion, Abnormality of the ribs, Micrognathia, Vertebral segmentation ... ORPHA:1988
Chromosome 6Q11-Q14 Deletion Syndrome
Short neck, Short nose, Broad nasal tip OMIM:613544
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Dysplastic sacrum, Severe platyspondyly, Short ribs, Short neck, Anteverted nares, Wi... OMIM:613320
Acrodysostosis
Delayed eruption of teeth, Short nose, Abnormal form of the vertebral bodies, Hypoplasia of the m... ORPHA:950
Microphthalmia With Limb Anomalies
Deep philtrum, Growth delay, Anophthalmia, Postnatal growth retardation, Microphthalmia, Cleft up... OMIM:206920
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Micrognathia, Short nose OMIM:615042
Diaphanospondylodysostosis
Lumbosacral meningocele, Short neck, Short nose, Tracheomalacia, Absent in utero rib ossification... OMIM:608022
Vitamin K Antagonist Embryofetopathy
Punctate vertebral calcifications, Short nose, Choanal atresia, Short neck, Anteverted nares, Dep... ORPHA:1914
Bresek Syndrome
Growth delay, Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia, Cleft palate, Intrau... ORPHA:85284
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Aganglionic megacolon, Microphthalmia, Intrauterine growth ... ORPHA:1438
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Short nose, Wide nasal bridge OMIM:614078
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Oligohydramnios, Abnormality of the dentition, Intrauterine growth retardation, Microphthalmia, C... ORPHA:228390
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Mandibular prognathia, Spinal canal stenosis, Anteverted nares, Depressed nasal bridge OMIM:614613
Perlman Syndrome
Short nose, Wide nasal bridge, Retrognathia, Micrognathia, Anteverted nares ORPHA:2849
Lethal Kniest-Like Dysplasia
Wide anterior fontanel ORPHA:2347
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Short stature, Narrow mouth OMIM:600118
Achondrogenesis, Type Ia
Unossified vertebral bodies, Short nose, Stillbirth, Beaded ribs, Short ribs, Short neck, Antever... OMIM:200600
Mend Syndrome
Cryptorchidism, Hypertelorism, Wide anterior fontanel, Midface retrusion, Micrognathia ORPHA:401973
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Aplasia/Hypoplasia of the lungs, Abnormality of the ribs, Microgn... ORPHA:2145
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Respiratory tract infection, Short nose, Wide nasal bridge, Hypoplasia of the maxilla OMIM:218000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Craniosynostosis, Wide anterior f... ORPHA:95699
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares OMIM:137550
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Duodenal stenosis, Microphthalmia ORPHA:2547
Immunodeficiency 49
Wormian bones, Hypertelorism, Lymphopenia, Natal tooth, Micrognathia, Eosinophilia OMIM:617237
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormality of the intervertebral disk, Anteverted nares, Short nose ORPHA:2701
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Short nose, Recurrent pneumonia ORPHA:1495
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Micrognathia, Thick nasal alae, Retrognathia, Supernumerary ribs ORPHA:163961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Short nose, Thin ribs, Depressed nasal ridge, 11 pairs of ribs OMIM:300863
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Schinzel-Giedion Syndrome
Myeloid leukemia, Delayed eruption of teeth, Wormian bones, Hypertelorism, Wide anterior fontanel... ORPHA:798
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Fanconi Anemia, Complementation Group S
Narrow palate, Thick upper lip vermilion, Microphthalmia, Short stature, Dental malocclusion, Mac... OMIM:617883
Fetal Trimethadione Syndrome
Scoliosis, Micrognathia, Short nose, Depressed nasal bridge ORPHA:1913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypertelorism, Hypoplasia of the zygomatic bone ORPHA:3074
Distal Monosomy 12Q
Wide anterior fontanel, Frontal bossing, Patent ductus arteriosus, Unilateral cryptorchidism, Bra... ORPHA:96149
Jaberi-Elahi Syndrome
Scoliosis, Kyphosis, Short nose, Depressed nasal bridge OMIM:617988
Even-Plus Syndrome
Short nose, Coronal cleft vertebrae, Depressed nasal ridge, Short neck, Vertebral clefting, Bifid... OMIM:616854
Spinocerebellar Ataxia With Dysmorphism
Scoliosis, Anteverted nares, Short nose OMIM:271270
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Short philtrum, Microphthalmia, Downturned corners of mouth ORPHA:93267
Temtamy Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Microphthalmia ORPHA:1777
Beckwith-Wiedemann Syndrome
Otosclerosis, Cryptorchidism, Exocrine pancreatic insufficiency, Large fontanelles, Wide anterior... ORPHA:116
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:615803
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Chung-Jansen Syndrome
Micrognathia, Anteverted nares, Short nose OMIM:617991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Micrognathia, Wide anterior fontanel, Plagiocephaly OMIM:618548
Meckel Syndrome, Type 5
Microphthalmia, Cleft upper lip, Cleft palate OMIM:611561
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short neck, Short nose, Pleural effusion, Beaded ribs, Short ribs, Wide nasal brid... OMIM:616897
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Microphthalmia OMIM:214150
X-Linked Dominant Chondrodysplasia Punctata
Rhizomelia, Microphthalmia, Short stature, Abnormality of the dentition ORPHA:35173
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Oligohydramnios, Abnormality of canine, Pierre-Robin se... ORPHA:364577
Baraitser-Winter Syndrome 1
Long philtrum, Wide mouth, Postnatal growth retardation, Oral cleft, Thin upper lip vermilion, Ao... OMIM:243310
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/Hypoplasia of the iris, O... ORPHA:137902
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus OMIM:601612
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Rhizomelia, Wide mouth, Microphthalmia, Short stature, Intrauterine growth retard... ORPHA:163966
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Microphthalmia, Tented upper lip vermilion OMIM:614105
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Short nose, Bulbous nose, Mandibular prognathia, Kyphosis, Depressed nasal bridge ORPHA:261144
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Mild short stature, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:614833
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Joubert Syndrome 14
Short philtrum, Open mouth, Growth delay, Tented upper lip vermilion, Hypertension, Microphthalmia OMIM:614424
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Arrhythmia, Microphthalmia, Short stature ORPHA:3191
Microcephaly-Micromelia Syndrome
Narrow mouth, Oligohydramnios, Microphthalmia, Cleft palate, Intrauterine growth retardation OMIM:251230
Bent Bone Dysplasia Syndrome
Hypertelorism, Midface retrusion, Coronal craniosynostosis, Micrognathia, Hepatosplenomegaly OMIM:614592
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Lymphedema, Deep philtrum, Thin upper lip vermilion, Microphthalmia, Thick lower l... OMIM:152950
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Pituitary Hormone Deficiency, Combined, 1
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613038
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Frontonasal Dysplasia 1
Median cleft palate, Median cleft lip, Microphthalmia, Widely-spaced maxillary central incisors OMIM:136760
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Delayed eruption of teeth, Hypertelorism, Wide anterior fontanel, Frontal bossing... OMIM:180700
Crouzon Syndrome
Hypertelorism, Lambdoidal craniosynostosis, Frontal bossing, Mandibular prognathia, Dysgerminoma,... OMIM:123500
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose OMIM:300558
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Short columella, Laryngomalacia, Micrognathia, Anteverted nares, Depressed nasal bridge ORPHA:171839
Pterygium Colli, Isolated
Short nose OMIM:177990
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Disproportionate short-trunk short stature, Microphthalmia,... ORPHA:85194
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Opsismodysplasia
Scoliosis, Anterior rib cupping, Short nose, Severe platyspondyly, Posterior rib cupping, Hypopla... OMIM:258480
Glutamine Deficiency, Congenital
Short nose, Wide nasal bridge, Neonatal death, Anteverted nares, Recurrent respiratory infections... OMIM:610015
Clark-Baraitser Syndrome
Short nose, Depressed nasal bridge OMIM:617752
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Short nose, Wide nasal bridge OMIM:613603
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, ... ORPHA:439822
Chromosome 16P13.3 Duplication Syndrome
Short nose, Bulbous nose OMIM:613458
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Micrognathia, Bulbous nose OMIM:613604
Atelosteogenesis, Type I
Short neck, Short nose, Stillbirth, Coronal cleft vertebrae, Laryngeal stenosis, Thoracic platysp... OMIM:108720
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Silver-Russell Syndrome 2
Delayed closure of the anterior fontanelle, Micrognathia, Hyperhidrosis, Frontal bossing OMIM:618905
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Short stature, Cleft palate OMIM:610125
Tetrasomy 12P
Delayed eruption of teeth, Short neck, Anteverted nares, Short nose ORPHA:884
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, High, narrow palate OMIM:607597
Wrinkly Skin Syndrome
Cryptorchidism, Carious teeth, Delayed eruption of teeth, Hypertelorism, Wormian bones, Wide ante... OMIM:278250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Microphthalmia, Cleft palate, Intrauterine growth retardation, ... OMIM:614083
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Spondylolisthesis, Anterior open-bite malocclusion, Spina bifida occulta, 11 pairs of... OMIM:617877
Cole-Carpenter Syndrome 2
Wormian bones, Hypertelorism, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... OMIM:616294
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Microphthalmia, Anophthalmia OMIM:248450
Robinow Syndrome, Autosomal Recessive 2
Short nose, Wide nasal bridge, Broad nasal tip, Micrognathia, Anteverted nares OMIM:618529
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short nose ORPHA:1389
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Underdeveloped nasal alae, Micrognathia, Short neck, Prominent nasal bridge ORPHA:2083
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Short neck, Short nose, Hypoplasia of teeth, Kyphoscoliosis, Micrognathia, Anteverted ... ORPHA:391408
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum, Microphthalmia OMIM:614526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypertelorism, Frontal bossing, Megaloblastic anemia, Deeply set eye, Abnormal erythrocyte morpho... ORPHA:2575
Galloway-Mowat Syndrome 3
Hiatus hernia, Narrow mouth, Oligohydramnios, Hypertension, Edema, Microphthalmia, Short stature,... OMIM:617729
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Bulbous nose, Sacral dimple, Prominent nasal bridge, Depressed nasal bridge OMIM:618828
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Bulbous nose, Laryngotracheomalacia, Short nose, Biconcave vertebral bodies, Thora... OMIM:271510
Craniofaciofrontodigital Syndrome
Short nose, Broad ribs, Dental malocclusion, Short neck, Anteverted nares, Hypoplastic vertebral ... OMIM:114620
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Edinburgh Malformation Syndrome
Micrognathia, Choanal atresia, Short nose, Anteverted nares ORPHA:1895
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Platyspondyly, Short nose, Microretrognathia, Kyphosis, Concave nasal r... OMIM:251450
Congenital Rubella Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature ORPHA:290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Recurrent upper respiratory tract infections, Mandibular p... ORPHA:391372
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Protein-losing enteropathy, Edema OMIM:618154
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Short nose, Depressed nasal bridge OMIM:608776
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Sandestig-Stefanova Syndrome
Oral cleft, High palate, Microphthalmia, Intrauterine growth retardation OMIM:618804
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Intellectual Developmental Disorder, X-Linked 98
Prominent nasal bridge, Anteverted nares, Short nose, Underdeveloped nasal alae OMIM:300912
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Microphthalmia OMIM:602501
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Wormian bones, Wide anterior fontanel, Frontal bossing, Micrognathia, Mandibular ... ORPHA:96334
3C Syndrome
Scoliosis, Short neck, Short nose, Kyphosis, Wide nasal bridge, Hemivertebrae, Micrognathia, Miss... ORPHA:7
Rodrigues Blindness
Tooth malposition, Microphthalmia, Short stature OMIM:268320
Ohdo Syndrome
Hypoplasia of teeth, Short nose, Wide nasal bridge, Micrognathia, Anteverted nares, Depressed nas... OMIM:249620
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypertelorism, Midface retrusion, Mandibular prognathia, Widely patent fontanelles and sutures, D... OMIM:603463
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Ascites, Microphthalmia, Short stature OMIM:602361
Craniofaciofrontodigital Syndrome
Short nose, Wide nasal bridge, Abnormality of the ribs, Hypoplastic vertebral bodies, Anteverted ... ORPHA:363705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Hypertelorism, Reduced natural killer cell co... OMIM:242860
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Mild postnatal grow... OMIM:265300
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Cryptorchidism, Talon cusp, Wide anterior fontanel, Frontal bossing, Deeply se... OMIM:180849
Meckel Syndrome, Type 4
Meningocele, Intrauterine growth retardation, Microphthalmia, Cleft palate OMIM:611134
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Short nose, Spina bifida occulta ORPHA:2983
Tetrasomy 18P
Scoliosis, Short nose ORPHA:3307
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Smith-Magenis Syndrome
Scoliosis, Delayed eruption of primary teeth, Short nose, Taurodontia, Abnormal form of the verte... ORPHA:819
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Narrow mouth, Microphthalmia, Short stature, Cleft palate, Microdontia OMIM:616734
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Scoliosis, Mandibular prognathia, Micrognathia, Short nose ORPHA:496790
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Smooth philtrum, Microphthalmia, Downturned corners of mouth OMIM:618652
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad columella, Short nose, Depressed nasal bridge OMIM:617865
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Cerebrofaciothoracic Dysplasia
Scoliosis, Short nose, Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Wide... ORPHA:1394
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Open mouth, Pyloric stenosis, Tented upper lip vermili... OMIM:619148
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Growth delay, Microphthalmia OMIM:610756
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Short nose, Thoracolumbar scoliosis, Short neck, Depressed nasal bridge OMIM:616723
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Midface retrusion, Proptosis, Wide cranial sutures, M... OMIM:614008
Teebi Hypertelorism Syndrome
Natal tooth, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:145420
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Deep philtrum, Intestinal malrotation, Smooth philtru... ORPHA:404440
3P25.3 Microdeletion Syndrome
Short philtrum, Downturned corners of mouth, Deep philtrum, Thin upper lip vermilion, Pulmonic st... ORPHA:435638
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Nance-Horan Syndrome
Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Marshall-Smith Syndrome
Scoliosis, Short nose, Choanal atresia, Retrognathia, Anteverted nares ORPHA:561
Cebalid Syndrome
Depressed nasal bridge, Short nose, Anteverted nares, Depressed nasal ridge OMIM:618774
Martsolf Syndrome 1
Short philtrum, Tooth malposition, Congestive heart failure, Microphthalmia, Short stature, Cardi... OMIM:212720
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Downturned corners of mouth, Deep philtrum, Cleft lip, Microphthalmia, Cleft palat... OMIM:618571
Kenny-Caffey Syndrome, Type 1
Carious teeth, Delayed closure of the anterior fontanelle, Hypertelorism, Congenital hypoparathyr... OMIM:244460
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Carious teeth, Short nose, Narrow maxilla, Long nose, Pneumothorax, Narrow nose OMIM:617602
Trisomy 12P
Micrognathia, Short neck, Short nose, Wide nasal bridge ORPHA:1699
Al-Raqad Syndrome
Short nose OMIM:616459
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Waardenburg Syndrome Type 1
Scoliosis, Short nose, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge ORPHA:894
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia, Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
3Q29 Microduplication Syndrome
Aniridia, Deep philtrum, Abnormality of the dentition, Ectopic anus, Microphthalmia, Cleft palate... ORPHA:251038
Ruvalcaba Syndrome
Scoliosis, Convex nasal ridge, Abnormality of vertebral epiphysis morphology, Short nose, Kyphosis ORPHA:3121
Autosomal Dominant Omodysplasia
Micrognathia, Short nose, Depressed nasal bridge ORPHA:93328
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Broad philtrum, Thick lower ... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose OMIM:300143
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Scoliosis, Short nose, Wide nasal bridge, Broad nasal tip, Micrognathia, Prominent nasal bridge OMIM:300749
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Short nose, Micrognathia, Wafer-thin platyspondyly, Short neck, Anteverted nares, Depressed nasal... OMIM:602613
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Icf Syndrome
Hypertelorism, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Ane... ORPHA:2268
Hallermann-Streiff Syndrome
Thin vermilion border, Spina bifida, Narrow palate, Narrow mouth, Proportionate short stature, Ev... OMIM:234100
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Arthrogryposis, Distal, Type 2A
Scoliosis, Short nose, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Spina... OMIM:193700
Fryns Syndrome
Polyhydramnios, Long philtrum, Intestinal malrotation, Wide mouth, Non-midline cleft lip, Agangli... ORPHA:2059
Cenani-Lenz Syndrome
Scoliosis, Convex nasal ridge, Abnormal dental enamel morphology, Short nose, Abnormal form of th... ORPHA:3258
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricu... ORPHA:137675
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Growth delay, Small intestinal polyposis... ORPHA:329971
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Bulbous nose, Mandibular prognathia, Wide nasal bridge, Short neck, Depressed nasal b... ORPHA:369891
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Wide nasal bridge, ... OMIM:618454
Opsismodysplasia
Short nose, Abnormally ossified vertebrae, Hypoplastic vertebral bodies, Recurrent respiratory in... ORPHA:2746
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Short nose, Wide nose, Depressed nasal bridge OMIM:613457
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Scoliosis, Prominence of the premaxilla, Short nose, Choanal sten... OMIM:602535
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Dental malocclusion, Micrognathia, Recurrent respiratory infections ORPHA:329178
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Wide nasal bridge, Broad nasal tip OMIM:614207
9q subtelomeric deletion syndrome