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Gene: Tcof1 MGI:892003

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

treacle ribosome biogenesis factor 1

Synonyms:

treacle

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Tcof1 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.

Human diseases associated with Tcof1 (2 diseases)
Human diseases predicted to be associated with Tcof1 (2198 diseases)

The table below shows human diseases associated to Tcof1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Treacher-Collins Syndrome		Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Encephalocele,...	ORPHA:861
Treacher Collins Syndrome 1		Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500

The table below shows human diseases predicted to be associated to Tcof1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	OMIM:610828
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, ...	OMIM:618737
Frontofacionasal Dysplasia	Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cleft, Midline defect of the...	OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cle...	ORPHA:306542
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a...	ORPHA:93262
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul...	ORPHA:141152
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Microcephaly, Dyspnea, Depressed nasal ridg...	ORPHA:1832
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a...	ORPHA:207
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Holopr...	ORPHA:563612
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Periventricular leukom...	OMIM:618302
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Hartsfield Syndrome	Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Alobar holoprosence...	OMIM:615465
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Abnormality of the dentition	ORPHA:2776
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal ti...	OMIM:136760
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Microcephaly, Prominent nose, Wide anterior fontanel, Patent ductus...	OMIM:614886
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hy...	OMIM:610829
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint...	ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Chronic constipation, H...	OMIM:300676
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Anal atresia	ORPHA:93950
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed nasal ridge, ...	ORPHA:2412
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Anteverted nares, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum ...	ORPHA:1797
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypoplasi...	OMIM:620157
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Hypoplasia of the maxilla, Decreased nerve conduction ...	OMIM:218000
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:776
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Microcephaly, ...	ORPHA:2166
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen...	OMIM:261800
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, Everted lower...	ORPHA:1695
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Macrocephaly, Everted ...	OMIM:614753
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, High palate, Macrocephaly	ORPHA:85279
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Macrocephaly,...	ORPHA:261295
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat...	OMIM:617746
Intellectual Developmental Disorder, Autosomal Recessive 69	Microcephaly, Cerebellar hypoplasia, Hyperplasia of the maxilla	OMIM:618383
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na...	ORPHA:2673
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Coloboma, Joint laxity, Vertebral fusion, Anteverted n...	OMIM:615583
Congenital Arthrogryposis With Anterior Horn Cell Disease	Micrognathia, Microcephaly, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, F...	OMIM:611890
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Alobar holoprosenc...	OMIM:157170
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D...	OMIM:122600
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short...	ORPHA:2311
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Clinodactyly, Hemivertebra...	OMIM:268310
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib mo...	ORPHA:1988
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab...	ORPHA:66637
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso...	OMIM:611209
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio...	ORPHA:1540
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult...	ORPHA:79113
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, High palate, Narrow mouth, Retrognathia	ORPHA:2528
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Death in infancy, ...	OMIM:615042
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Apert Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Agenesis of co...	ORPHA:87
Microphthalmia With Limb Anomalies	Death in infancy, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, Depressed nasal bri...	ORPHA:1106
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo...	OMIM:241310
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Hemive...	OMIM:156200
Keipert Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid...	ORPHA:2662
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Dental malocclusion, Te...	OMIM:614669
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Atelosteogenesis, Type Iii	Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, P...	OMIM:108721
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Macrocephaly, Thickened ...	ORPHA:178377
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal...	ORPHA:3268
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ...	ORPHA:2345
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta...	OMIM:608681
Trisomy 13	Anophthalmia, High, narrow palate, Narrow chest, Iris coloboma, Bilateral single transverse palma...	ORPHA:3378
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ...	ORPHA:2409
Pfeiffer Syndrome	Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia...	OMIM:101600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly, Crowded maxillary incisors	ORPHA:397973
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Sing...	OMIM:619188
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short neck, Bilateral cryptorchidism, High palate, Recurrent aspiration pneumonia, Iris coloboma,...	OMIM:300472
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Short neck, Pectus excavatum,...	ORPHA:52055
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Kyphosi...	OMIM:618393
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Hypoplasia of the maxilla, Broa...	ORPHA:293939
Cohen Syndrome	Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding dif...	OMIM:216550
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, ...	OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 26	Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Deep philtrum, Wide nasal b...	OMIM:615834
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath...	OMIM:602483
8Q22.1 Microdeletion Syndrome	Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Abnormality of the dentition, Submucou...	ORPHA:178303
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Microcephaly, Brachycephal...	ORPHA:1387
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
Dysostosis, Stanescu Type	Narrow nasal bridge, Cerebral calcification, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:1798
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Midf...	OMIM:619142
Marshall Syndrome	Thickened calvaria, Frontal bossing, Cerebral calcification, Anteverted nares, Depressed nasal br...	ORPHA:560
Chondrodysplasia Punctata, Autosomal Dominant	Frontal bossing, Hypoplasia of the nasal bone	OMIM:118650
Potocki-Shaffer Syndrome	Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami...	ORPHA:52022
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Wide nasal bridge, Brachyc...	OMIM:618577
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Simplif...	OMIM:601390
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter...	ORPHA:247262
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, High palate, Widely spaced teeth, Apl...	ORPHA:192
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Depressed nasal bridge, Pro...	ORPHA:90650
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-midline cleft lip, Cleft ...	ORPHA:245
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr...	OMIM:610017
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ...	ORPHA:949
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Missing r...	OMIM:613686
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clino...	OMIM:614701
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Mac...	OMIM:109120
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Brachycephaly,...	ORPHA:2095
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
2Q32Q33 Microdeletion Syndrome	Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Microcephaly, Brachyceph...	ORPHA:251019
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Microcephaly...	OMIM:620370
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ...	OMIM:618272
Seckel Syndrome 4	11 pairs of ribs, Severe short stature, Underdeveloped nasal alae, Low-set ears, Steep acetabular...	OMIM:613676
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Kleeblattschaedel	Hydrocephalus, Proptosis	OMIM:148800
Marshall-Smith Syndrome	Irregular dentition, Apnea, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Ch...	OMIM:602535
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ...	OMIM:615419
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Anteverted nares, Short stature, Anterior concavity of thoracic vertebr...	OMIM:617101
Holoprosencephaly	Flat occiput, Anophthalmia, Short neck, Deep philtrum, Depressed nasal ridge, Panhypopituitarism,...	ORPHA:2162
Intellectual Developmental Disorder, X-Linked 104	Abnormal pinna morphology, Bifid nasal tip, Optic atrophy, Wide nasal bridge, High palate, Trigon...	OMIM:300983
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short stature,...	OMIM:300867
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Cerebral calcification, 4-layered lissencepha...	ORPHA:89844
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Camptodactyly of...	OMIM:619110
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Short stature, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nas...	ORPHA:93946
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Short stature, Dep...	OMIM:122860
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Long philtru...	OMIM:613792
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Webbed neck, Symphalangism affecting the phalan...	ORPHA:2990
Zaki Syndrome	Wide nose, Sacral dimple, Anteverted nares, Short stature, Toe syndactyly, Micrognathia, Long fin...	OMIM:619648
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe...	ORPHA:782
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater...	ORPHA:2003
Cornelia De Lange Syndrome 5	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Feeding difficult...	OMIM:300882
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Feeding...	OMIM:617616
Achondrogenesis Type 1A	Frontal bossing, Anteverted nares, Micrognathia, Abdominal distention, Macrocephaly, Umbilical he...	ORPHA:93299
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hyperintensity of cerebral white matte...	ORPHA:481152
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Optic atrophy, Cerebral atrophy, Feeding difficulties, Respiratory insufficiency, R...	OMIM:615330
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Posteriorly rotated ears, Broad nasal tip, Accelerate...	OMIM:617190
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe...	ORPHA:1327
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Relative macrocephaly, Aplasia of the nasal bone...	ORPHA:93357
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Micrognathia, Microcephaly, Feeding difficulties, Wide mouth, Widely spaced...	OMIM:300934
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Cupped ear, Sensorineura...	ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm...	OMIM:309545
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Frontal bossing, Dental crowding, Prominent nasal ...	OMIM:309520
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta...	ORPHA:228396
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Feeding difficulties in infancy, Depressed nasal ridge, ...	OMIM:618672
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy,...	ORPHA:251061
Tetralogy Of Fallot	Proptosis	OMIM:187500
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop...	ORPHA:950
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Micrognathia, Microcephaly, Dolichocephaly, Gingival o...	OMIM:618186
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Anteriorly placed anus, High palate, Prominent fingert...	OMIM:612863
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Flat occiput, Micrognathia, Microcephaly, High, narrow palate, Dyspnea, Opt...	ORPHA:2707
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:311895
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Coloboma, Low-s...	OMIM:167730
Holoprosencephaly 11	Synophrys, Hypotelorism, Proptosis, Holoprosencephaly, Thick eyebrow	OMIM:614226
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Feeding diffic...	OMIM:105830
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose...	OMIM:617982
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, La...	ORPHA:2780
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a...	OMIM:619941
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Frias Syndrome	Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:609640
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 toe syndactyly, S...	OMIM:618914
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge...	OMIM:601499
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Long philt...	OMIM:130720
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, Macrocephaly,...	ORPHA:1307
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Patent du...	ORPHA:171839
Mohr Syndrome	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th...	OMIM:252100
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet...	ORPHA:64755
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Depressed nasal bridge, Optic atrophy, Abnormal rib mor...	ORPHA:1513
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Micrognathia, Microcephaly, B...	OMIM:300590
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia...	OMIM:615546
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Encephalocele,...	ORPHA:861
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Flat o...	ORPHA:46
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia...	OMIM:619873
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes...	OMIM:300580
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Frontal bossing, Depressed ...	ORPHA:439822
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Mic...	OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia...	OMIM:615761
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi...	OMIM:257850
Kbg Syndrome	Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Finger clinodac...	ORPHA:2332
Carpenter Syndrome 1	Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of th...	OMIM:201000
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Hydroc...	ORPHA:2189
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Short neck, Depressed nasa...	OMIM:613885
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,...	ORPHA:370010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place...	OMIM:613406
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ...	ORPHA:798
Frontorhiny	Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft...	ORPHA:391474
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Megalencephaly, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Oligodo...	OMIM:600325
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Cupped ear, Patent ductus arter...	OMIM:614846
Neuhauser Syndrome	Osteopenia, Frontal bossing, Depressed nasal bridge, Short stature, Genu recurvatum, Micrognathia...	OMIM:249310
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Diastema, Broad nasal tip, Patent ductus arteriosus, ...	OMIM:609757
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Wide nas...	OMIM:265050
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Microcephaly-Deafness-Intellectual Disability Syndrome	Short stature, Micrognathia, Sensorineural hearing impairment, Cupped ear, Protruding ear, Everte...	ORPHA:2533
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract...	OMIM:265000
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wid...	OMIM:182212
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic disc pallor, Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Tapered finger, Op...	OMIM:615722
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Pycnodysostosis	Obtuse angle of mandible, Frontal bossing, Delayed eruption of primary teeth, Persistence of prim...	ORPHA:763
Trisomy 1Q	Anophthalmia, Microretrognathia, Depressed nasal bridge, Arachnodactyly, Cryptorchidism, Patent d...	ORPHA:261344
Prieto Syndrome	11 pairs of ribs, Prominent nose, Abnormality of the dentition, Coxa valga, Cryptorchidism, Osteo...	OMIM:309610
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Patent ductu...	OMIM:106260
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patent ductus arteriosus,...	OMIM:616462
Pierpont Syndrome	Smooth philtrum, Wide nose, Microcephaly, Broad nasal tip, Short nose, Brachycephaly, Feeding dif...	OMIM:602342
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Pr...	OMIM:620240
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypoplasia of the ...	ORPHA:50814
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem...	OMIM:142946
Qazi-Markouizos Syndrome	Prominent nasal bridge, High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic c...	ORPHA:3010
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the...	ORPHA:314679
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Martsolf Syndrome 1	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy,...	OMIM:212720
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Proportionate short stature, Cleft upper lip, Short neck, P...	OMIM:609654
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Dow...	ORPHA:264200
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r...	ORPHA:2399
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio...	OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Brachycephaly, Protruding ear, Oligodontia, High...	OMIM:309590
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Prominent nose, Coxa valga, Cryptorchidism, Osteoporosis, Patellar s...	ORPHA:2958
Kagami-Ogata Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill...	OMIM:608149
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Anteverted nares, Short stature, Decreased palmar creases, Micrognathia, Kyp...	ORPHA:352490
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ...	OMIM:613870
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Slender nose, Micrognathia, Microcephaly, Narrow mouth, Abnormal pattern of respirat...	ORPHA:562528
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Frontal bossing, Respiratory distress, Depressed nas...	ORPHA:166272
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Conductive hear...	OMIM:263750
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:172880
Hypomandibular Faciocranial Dysostosis	Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy...	ORPHA:1790
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se...	ORPHA:138
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Abnormal cortical gyration, Wide nasal ridge, Brachyce...	ORPHA:487825
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Anteverted nares, Hydrocephalus, Flexion contracture, Optic atrophy, Small han...	OMIM:300884
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Cerebrooculonasal Syndrome	Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairm...	OMIM:605627
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Multiple joint contractures, Single transverse palmar crease, Microgn...	OMIM:618291
Desmosterolosis	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia...	OMIM:602398
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr...	ORPHA:1445
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption...	ORPHA:50
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Short ...	OMIM:617452
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo...	ORPHA:1104
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, Patent ductus arteriosus, Brachycephaly, High...	OMIM:618142
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick lower lip vermilion, Feeding difficu...	OMIM:613804
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Baraitser-Winter Syndrome 1	Short neck, Orofacial cleft, Chorioretinal coloboma, Pachygyria, Iris coloboma, Anteverted nares,...	OMIM:243310
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia...	OMIM:300534
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Pallister-Hall Syndrome	Adrenal hypoplasia, Depressed nasal ridge, Hemivertebrae, Gonadotropin deficiency, Holoprosenceph...	ORPHA:672
Larsen-Like Syndrome	Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft palate, Absent...	OMIM:608545
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, High palate, Short philt...	ORPHA:3063
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Bilateral Polymicrogyria	4-layered lissencephaly, Micrognathia, Sensorineural hearing impairment, Perisylvian polymicrogyr...	ORPHA:268940
Treacher Collins Syndrome 4	Respiratory failure requiring assisted ventilation, Microcephaly, Feeding difficulties in infancy...	OMIM:618939
Coffin-Siris Syndrome 6	Frontal bossing, Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Short stature, ...	OMIM:617808
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Micrognathia, Brachycephaly, Short nose, Spina bifida occulta	ORPHA:1514
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Hiatu...	OMIM:304050
Sandestig-Stefanova Syndrome	Wide nasal bridge, Orofacial cleft, Respiratory failure, High palate, Hypoplasia of the corpus ca...	OMIM:618804
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Ck Syndrome	Dental crowding, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Pachygyria, Hype...	OMIM:300831
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of ...	OMIM:179613
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ...	ORPHA:628
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl...	ORPHA:313892
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Palmar pits, Hydrocephalu...	ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Abnormal cerebral white matter morphology, Hyperplasia of the maxilla	OMIM:618587
German Syndrome	Depressed nasal bridge, Micrognathia, Dolichocephaly, Wide nasal bridge, Orofacial cleft, Brachyc...	ORPHA:2077
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Pachygyria, Depressed ...	OMIM:612513
Wieacker-Wolff Syndrome	Apnea, Proximal placement of thumb, Micrognathia, Short neck, High palate, Narrow chest, Neonatal...	OMIM:314580
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Micr...	OMIM:617752
Xq28 (MECP2) duplication	Depressed nasal bridge, Microcephaly, Feeding difficulties in infancy, Brachycephaly, Dysphagia, ...	DECIPHER:45
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Open...	ORPHA:794
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge, Feeding diffic...	ORPHA:261304
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Single transverse palmar ...	ORPHA:96334
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ...	ORPHA:163649
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Anteverted nares, Apnea, Craniosynostosis, Microgna...	ORPHA:2462
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Abnormal zygomatic bone m...	ORPHA:2511
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Anteverted nares, Short stature, Persistence of primary teeth, Micrognathia, Sen...	OMIM:618342
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Cutaneous finger ...	OMIM:219000
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Cran...	OMIM:601853
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip,...	OMIM:129400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hy...	ORPHA:163961
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o...	ORPHA:193
Pontocerebellar Hypoplasia, Type 3	Optic disc pallor, Depressed nasal bridge, Reduced cerebral white matter volume, Hypoplasia of th...	OMIM:608027
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent...	ORPHA:238468
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Depressed nasal bridge, Dolichocephaly, Carious teeth, Wide nasal bridge, T...	OMIM:617102
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Pontocerebellar Hypoplasia Type 10	Long palpebral fissure, Proptosis, Long eyelashes, Highly arched eyebrow	ORPHA:411493
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Short stature, Short neck, Pachygyria, Orofa...	OMIM:614583
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Sh...	ORPHA:505237
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynost...	OMIM:608156
Branchiootic Syndrome	Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma...	ORPHA:52429
Fetal Trimethadione Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, High palate, Short nose, Midfa...	ORPHA:1913
Gómez-López-Hernández Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Hydrocephalus, Brachycephaly, Thin ...	ORPHA:1532
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat...	OMIM:108720
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H...	OMIM:170390
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fu...	OMIM:300166
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous n...	OMIM:609460
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Short neck, Kyphosi...	ORPHA:2522
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:101800
Marcus-Gunn Syndrome	Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Postnatal grow...	ORPHA:91412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phala...	OMIM:300863
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Intrauterine grow...	ORPHA:1937
Rubinstein-Taybi Syndrome 2	Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndact...	OMIM:613684
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Hydrocephalus, Se...	OMIM:612938
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowin...	ORPHA:93315
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal b...	OMIM:615524
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Dental crowding, Internally rotated shoulders, Ankle flexion c...	OMIM:617468
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Malar flattening, Shor...	ORPHA:2145
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu...	OMIM:305400
Peho-Like Syndrome	Tapered finger, Optic atrophy, Retrognathia, Lissencephaly, Open mouth, Pachygyria, Polymicrogyri...	OMIM:617507
Perching Syndrome	Respiratory distress, Depressed nasal bridge, Feeding difficulties, High palate, Dysphagia	OMIM:617055
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, C...	ORPHA:1555
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Short neck, High palate, Short palm, Anteverted nares, Depressed nasal bridge, Faci...	OMIM:272430
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n...	OMIM:113620
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep...	ORPHA:329178
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners...	OMIM:617140
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t...	OMIM:214800
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Short stature, Cryptorchidism, Delayed skeletal ...	OMIM:619595
Spinocerebellar Ataxia, Autosomal Recessive 31	Pectus excavatum, Optic atrophy, Gingival overgrowth, Growth delay, High palate, Bilateral sensor...	OMIM:619422
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Multiple prenatal fractures, Pa...	OMIM:215140
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Midface retrusion, Promine...	OMIM:601812
Microcephaly 5, Primary, Autosomal Recessive	Proptosis, Highly arched eyebrow	OMIM:608716
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Flat occiput, Depressed nasal bridge, Micrognathia, High, narrow palate, Pa...	OMIM:608799
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness, Scaphocepha...	ORPHA:1143
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Frontal bossing, Microcephaly, Dolichocephaly, Low hanging columella, Brac...	OMIM:619721
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Submucous cleft hard palate, Feeding diffi...	OMIM:613805
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Hemivertebrae, Abnormal sternum morphology, Parietal bossing,...	OMIM:109400
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Bilateral cryptorchidism, Flexion contractur...	OMIM:263650
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Micrognathia, Wide anterior fontanel, Underdeveloped nasal alae, Brachycephaly, Ret...	OMIM:263210
Perlman Syndrome	Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palate, Cryptorchidism, Sh...	ORPHA:2849
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Conductive hearing impairment...	OMIM:607872
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta...	OMIM:618845
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cerebellar vermis hypoplasia, Cleft ala nasi, Conical tooth, Depressed...	OMIM:613451
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle...	OMIM:309620
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Cleft palate, Respi...	OMIM:614399
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Nemaline Myopathy 9	Respiratory insufficiency, High palate, Cleft palate, Micrognathia	OMIM:615731
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Prominent nose, Camptodactyly of toe, Hyperpl...	OMIM:300280
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Large fleshy ears, High palate, Anteverted nares, Depressed nasal bridge, Patent du...	OMIM:614080
Weiss-Kruszka Syndrome	Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Hearing impairment, Single tr...	OMIM:618619
Ear-Patella-Short Stature Syndrome	Respiratory distress, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow pal...	ORPHA:2554
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Monosomy 18P	Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Brachycephaly, Downtu...	ORPHA:1598
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg...	ORPHA:3447
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Brachycephaly, Protrudin...	OMIM:148050
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Downturn...	ORPHA:1299
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi...	OMIM:609166
Grant Syndrome	Frontal bossing, Depressed nasal bridge, Micrognathia, Open bite, Brachycephaly, Abnormal palate ...	ORPHA:2097
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o...	OMIM:612776
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Br...	OMIM:615828
Glycine Encephalopathy With Normal Serum Glycine	Anteverted nares, Depressed nasal bridge, Apnea, Microcephaly, Dolichocephaly, Optic atrophy, Res...	OMIM:617301
Spondylometaphyseal Dysplasia, Axial	Short stature, Anterior rib cupping, Rhizomelia, Proximal femoral metaphyseal irregularity, Dispr...	OMIM:602271
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Hemivertebrae, Abnormal form of the verte...	ORPHA:2916
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Abnorma...	OMIM:600776
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li...	ORPHA:3080
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kypho...	ORPHA:90322
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Ear pain, Cranial nerve compression, Schwannoma, Abnormal glos...	ORPHA:221098
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,...	OMIM:244600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynos...	ORPHA:459061
Pseudodiastrophic Dysplasia	Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Malar flattening, Midface retrusi...	OMIM:264180
Pitt-Hopkins Syndrome	Short fourth metatarsal, Single transverse palmar crease, Short neck, Deep philtrum, Short philtr...	OMIM:610954
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Feeding difficulties in in...	OMIM:610536
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla...	OMIM:618774
Pontocerebellar Hypoplasia, Type 1C	Cerebellar vermis hypoplasia, Respiratory insufficiency, Feeding difficulties, Respiratory failur...	OMIM:616081
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycephaly, Do...	ORPHA:369891
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Focal Dermal Hypoplasia	Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ...	OMIM:305600
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Malar flatten...	ORPHA:139474
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Prominent fingertip pads, Diabetes mellitus, Single transverse palmar crea...	ORPHA:391372
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Broad hallux, Protru...	OMIM:617062
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ...	OMIM:182290
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro...	ORPHA:404440
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine...	OMIM:605039
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615108
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Feeding diff...	OMIM:611722
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck,...	ORPHA:93298
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,...	ORPHA:819
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short neck, High, narro...	OMIM:617926
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Coloboma, High palate, Short ...	OMIM:309500
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Flared nostrils, Brachy...	OMIM:619504
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Ante...	ORPHA:438216
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Cam...	ORPHA:1703
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Proptosis, Hypertelorism	OMIM:612247
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Koolen-De Vries Syndrome	High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae...	ORPHA:96169
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Anteverted n...	OMIM:166250
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormality of the nose, Carious teeth...	ORPHA:1390
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge	OMIM:600252
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Van Den Ende-Gupta Syndrome	Dental crowding, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypoplasia of the maxill...	OMIM:600920
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Simplified gyral pattern, Decreased thalamic volume, High palate, Low-set ear...	OMIM:619072
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor...	OMIM:305100
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, High pal...	OMIM:211380
Warsaw Breakage Syndrome	Single transverse palmar crease, Postnatal growth retardation, Hypoplasia of the cochlea, Optic d...	OMIM:613398
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Seckel Syndrome 5	11 pairs of ribs, Short stature, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, ...	OMIM:613823
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Br...	OMIM:619480
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum...	ORPHA:990
Walker-Warburg Syndrome	Anophthalmia, Posteriorly rotated ears, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus...	ORPHA:899
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:217980
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Anteg...	OMIM:305620
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Micrognathia, Microcephaly, Cleft lip, Underdevelo...	ORPHA:398156
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Brachyc...	OMIM:277600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t...	ORPHA:137888
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Microcephaly, Micrognathia, Prominent nose, Feeding difficulties, High palate, Hyperplasia of the...	OMIM:620194
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Anteverted nares, Micrognathia, Wide anterior fontanel...	ORPHA:3309
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Bifid uvula, Low-set, posteriorly rotated ears, Increased b...	ORPHA:35107
Monosomy 5P	Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Recurrent...	ORPHA:281
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen...	OMIM:202650
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai...	OMIM:150250
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Malar flatteni...	OMIM:268850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Brachycephaly, ...	OMIM:618223
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, ...	OMIM:164180
Insulin-Like Growth Factor I, Resistance To	Micrognathia, High palate, Long philtrum, Short stature, Delayed skeletal maturation, Wide nasal ...	OMIM:270450
Meier-Gorlin Syndrome 3	Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly,...	OMIM:613803
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Depressed nasal bridge, Optic disc hypoplasia, Short neck, Cupped e...	OMIM:619955
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Micrognathia, Protuberant abdomen, Malar flattening, Short nos...	OMIM:614524
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615109
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:616570
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Unilateral polymicrogyria, Prominent nasal bridge, Microcephaly, High palate, Hypop...	ORPHA:319171
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Short stature, Cleft upper lip, Short neck, Rib fus...	ORPHA:1394
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Muenke Syndrome	Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Macrocephaly, Malar flattening, C...	OMIM:602849
Basilicata-Akhtar Syndrome	Short palm, Tented upper lip vermilion, Anteverted nares, Wide nasal ridge, Abnormal pinna morpho...	OMIM:301032
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Brachydactyly, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebra...	OMIM:617396
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Protruding ear, Enlarged thorax, High palate, Bilateral single transverse palmar c...	ORPHA:261349
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Anteverted nares, Facial palsy, Microcephaly, Brachycephaly, Cleft palate, Dys...	OMIM:301041
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide nasal bridge, Cle...	OMIM:618388
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo...	ORPHA:521308
Oculoskeletodental Syndrome	Oligodontia, Thoracic kyphosis, Conductive hearing impairment, Microdontia, Thick nasal alae, Abn...	ORPHA:557003
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den...	ORPHA:96264
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micr...	OMIM:616549
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Sinusitis, Depressed nasal bri...	ORPHA:1452
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Respirator...	ORPHA:1194
Pyruvate Dehydrogenase E1-Alpha Deficiency	Frontal bossing, Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atr...	OMIM:312170
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o...	OMIM:181270
Familial Visceral Myopathy	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Microcephaly, Micrognathia, Abdo...	ORPHA:2604
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Mild microcephaly, ...	OMIM:618761
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Upslanted palpebral fissure, Proptosis	OMIM:618492
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Short stature, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Pate...	OMIM:617159
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Depressed nasal b...	OMIM:313420
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata...	OMIM:259440
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Optic atrophy, Growth delay, Respiratory fai...	OMIM:619057
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Yunis-Varon Syndrome	Flat occiput, Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic ver...	OMIM:216340
Juberg-Hayward Syndrome	Wide nose, Severe short stature, Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal ...	ORPHA:2319
Achondrogenesis, Type Ib	Abdominal distention, Respiratory insufficiency, Stillbirth, Umbilical hernia, Malar flattening	OMIM:600972
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Tapered finger, ...	ORPHA:171829
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Joint laxity, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylol...	OMIM:600561
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Brachycephaly, Cleft palate, Prominent occip...	OMIM:220210
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Brachydactyly, Decreased response to growth hormone stimulation test, Tapered fing...	ORPHA:485405
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Short neck, Abnormal form o...	ORPHA:233
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge...	OMIM:235510
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Flat occiput, Micrognathia, Abdominal distention, Alv...	OMIM:235255
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Brachyc...	OMIM:608328
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, High palate, Choanal ...	OMIM:259775
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi...	OMIM:619793
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a...	OMIM:619148
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure, Abnormal palate morphology, Micrognathia	ORPHA:75840
Squalene Synthase Deficiency	Depressed nasal bridge, Optic nerve hypoplasia, Posteriorly rotated ears, Micrognathia, Bilateral...	OMIM:618156
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Microcephaly, Underdeveloped nasal alae, Deep philtrum, Dep...	ORPHA:77300
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Clinodactyly, Orofacial cleft,...	OMIM:180700
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge...	OMIM:618853
Frontoocular Syndrome	Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Blepharophimosis, Short palpebr...	OMIM:605321
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Schaaf-Yang Syndrome	Mandibular prognathia, Flexion contracture, Short stature, Tapered finger, Cryptorchidism, Low-se...	OMIM:615547
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Microcephaly...	OMIM:616801
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Micrognathia	ORPHA:1423
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueduct...	ORPHA:3412
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Anteverted nares, Deep philtrum, Brachycephaly, Feeding difficulties, Downturned corners of mouth...	OMIM:618859
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Dystonia 31	Abnormal posturing	OMIM:619565
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Abnormal clavicle morphology, Cloverleaf skull, Rhizomelia, Bowing of the long b...	ORPHA:93267
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly, Anteverted nares, Depressed nasal bridge, Prominent nose, K...	OMIM:234250
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala...	OMIM:180849
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Pach...	ORPHA:2671
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Co...	ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr...	OMIM:606612
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Micro...	OMIM:617364
19P13.13 Microdeletion Syndrome	Brachycephaly, High palate, Vomiting, Anteverted nares, Depressed nasal bridge, Abdominal pain, M...	ORPHA:357001
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Depressed nasal bridge, Optic atrophy, Brachycephaly, Wide nasal bridge, Dysphagia	OMIM:264470
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Ramos-Arroyo Syndrome	Respiratory distress, Frontal bossing, Aganglionic megacolon, Anteverted nares, Depressed nasal b...	ORPHA:1051
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi...	OMIM:615560
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Neonatal respiratory distress, Prominent nasal bridge, Microcephaly, Micrognathia, Decreased nerv...	OMIM:618356
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Trisomy 20P	Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, D...	ORPHA:261318
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre...	ORPHA:2759
Warburg Micro Syndrome 3	Micrognathia, Microcephaly, Optic atrophy, Brachycephaly, Narrow palate, Downturned corners of mo...	OMIM:614222
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Depressed nasal bridge, Microcephaly, Micrognathia, Cleft palate, Respiratory in...	OMIM:215100
Potocki-Shaffer Syndrome	Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Dow...	OMIM:601224
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to...	OMIM:610253
Neu-Laxova Syndrome 2	Spina bifida, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, Lissencephaly, Hig...	OMIM:616038
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomening...	ORPHA:1914
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Deep philtrum, Protruding ear, Short philtrum, Joint contracture...	OMIM:620098
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Low hanging columella, Proxim...	OMIM:184460
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Microcephaly, Micrognathia, Bulbous nose, H...	OMIM:614437
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea...	OMIM:151200
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Conductive heari...	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Mic...	OMIM:300260
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Bilateral cryptorchidism, Bulbous nos...	ORPHA:544488
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Optic atrophy, Fused cervical v...	ORPHA:530983
Congenital Muscular Dystrophy With Intellectual Disability	Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Abnormality of the tongue muscle, Respi...	ORPHA:370968
Nabais Sa-De Vries Syndrome, Type 1	Neonatal respiratory distress, Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal br...	OMIM:618828
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Narrow mouth,...	ORPHA:83
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormality of the...	OMIM:157900
Chromosome 9P Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Long toe, Anteverted n...	OMIM:158170
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Brachycephaly, Pectus carinatum, Short palm, Abnormal nasal bridge mo...	ORPHA:363659
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Midface retrusion, Depressed nasal bridge, Micrognathia, High palate, ...	OMIM:613849
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Micrognathia, Short neck, Cryp...	ORPHA:98791
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co...	ORPHA:500150
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal...	OMIM:158350
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Anteverted nares,...	ORPHA:435638
Three M Syndrome 1	Joint dislocation, Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of...	OMIM:273750
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Brachycephaly, Short ...	OMIM:212066
Polyrrhinia	Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology, Orofacial...	ORPHA:141091
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A...	ORPHA:93323
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Maternal diabetes, Abnormality of the middle ear ...	ORPHA:2549
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Pr...	OMIM:610443
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe...	OMIM:101200
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Flat occiput, Feeding difficulties in infancy, Anteriorly placed anus, High...	OMIM:123790
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu...	ORPHA:2876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Death in infancy, Subcortical heterotopia, Remnants of the hyaloi...	OMIM:614643
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Hearing impairment, Micrognathi...	OMIM:617052
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C...	ORPHA:330015
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Dolichocephaly, Hypoplasia of the maxilla, High, narrow palate, Plagioceph...	ORPHA:1101
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck...	ORPHA:264450
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na...	ORPHA:314655
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Synd...	OMIM:227330
Lambotte Syndrome	Retrognathia, Preaxial foot polydactyly, Atresia of the external auditory canal, Narrow mouth, In...	OMIM:245552
Mullegama-Klein-Martinez Syndrome	Prominent nose, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres...	OMIM:301022
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Bulbous nose, Brachycephaly, Nar...	OMIM:618644
Heart Defects-Limb Shortening Syndrome	Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate...	ORPHA:1354
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w...	OMIM:210720
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate	ORPHA:96129
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Tented upper lip vermilion, Dental crowding, Depressed nasal bridge, Cleft upper...	OMIM:612582
Tetralogy Of Fallot	Proptosis	ORPHA:3303
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Frontal bossing, Micrognathia, Hypoplasia of the maxilla,...	OMIM:224690
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Wide nose, Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Abdominal distention,...	OMIM:619879
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema	ORPHA:3456
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S...	ORPHA:2588
Congenital Myopathy 14	Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Feeding difficulties, ...	OMIM:618414
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Frontal bossing, Micrognathia, Hypoplasia of the ...	OMIM:259600
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Respiratory distress, Gastrostomy tube feeding in infanc...	OMIM:620278
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior...	OMIM:114290
Intermediate Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, High, narrow palate, Abnormal thorax morphology, Flexi...	ORPHA:171433
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Microcephaly, Thick lower lip vermilion, Brachycephaly...	ORPHA:261652
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Hearing impairment, Micrognathia, Short neck, Tapered finger, Macrotia, Wide nas...	OMIM:620250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Single transverse palmar crease, High, narrow palate, Protruding ear, Abnormal curvatu...	OMIM:619475
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,...	ORPHA:90321
Cherubism	Proptosis	ORPHA:184
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Clinodactyly, Large fleshy ears, Widely spaced teet...	OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Microcephaly, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, B...	OMIM:300958
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Faundes-Banka Syndrome	Thin upper lip vermilion, Frontal bossing, Premature thelarche, Micrognathia, Underdeveloped nasa...	OMIM:619376
Craniofrontonasal Dysplasia	Frontal bossing, Craniosynostosis, Microcephaly, Abnormality of the dentition, Depressed nasal ri...	ORPHA:1520
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Femoral bowing, Tibial bowing, Narrow chest, Neonatal death, Lumbar hyperlo...	OMIM:616482
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De...	OMIM:619026
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,...	ORPHA:168555
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Dol...	OMIM:617352
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Micrognathia, Feeding difficulties in infancy, Brachycephaly, Downturned corners of mouth, High p...	OMIM:610759
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Micrognathia, Short neck, Pectus carinatum, Clinodactyly of the 5th finger...	ORPHA:3082
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Cough, Nasogastric tube feeding in infancy, D...	ORPHA:90117
Coffin-Siris Syndrome 3	Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Cleft palate, Feeding difficul...	OMIM:614608
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Cerebellar vermis hypoplas...	OMIM:619383
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Microcephaly, Wide nasal bridge, Cerebral atrophy, Respiratory insufficiency, Respiratory ...	OMIM:610127
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius...	ORPHA:3320
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Parietal foramina, ...	OMIM:101400
Trisomy 9P	Dental crowding, Microcephaly, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, I...	ORPHA:236
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Simplifie...	ORPHA:468631
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Hyperlordosis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, R...	OMIM:161800
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Pyloric stenosis, Conductive hearing impairment, Sensorineural he...	ORPHA:261197
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Metaphyseal cupping of metacar...	ORPHA:163966
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydrocephalus, ...	OMIM:207410
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micro...	ORPHA:2636
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Malnutrition, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum...	OMIM:620200
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Repeated pneumothoraces, C...	OMIM:617602
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Diaphanospondylodysostosis	Respiratory distress, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, ...	OMIM:608022
Distal Deletion 10Q	Micrognathia, Prominent nose, Brachycephaly, High palate, Cavum septum pellucidum, Spina bifida o...	ORPHA:96148
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Microcephaly, Hypoplasia of the pons, Feeding difficulties, Hypoplasia of the b...	OMIM:225753
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, ...	OMIM:616364
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Coronal craniosynostosis...	OMIM:612289
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac...	OMIM:277590
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Downturned corners of mo...	OMIM:619539
Trisomy 10P	Micrognathia, Abnormality of the ear, Simplified gyral pattern, Orofacial cleft, Hemivertebrae, H...	ORPHA:171929
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat...	OMIM:618363
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Neuronal loss in the cereb...	ORPHA:168486
Intellectual Developmental Disorder, X-Linked 93	Frontal bossing, Macrotia, Cupped ear, Cryptorchidism	OMIM:300659
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Short stature, Cryptorchidism, Postaxial foot polydactyly, Deep palmar creas...	OMIM:301056
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Short stature, Hypergonadotropic hypogonadism, Crypto...	ORPHA:163976
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Respiratory insuffi...	ORPHA:169186
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Wide ...	OMIM:157980
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Pectus carinatum, Knee ...	OMIM:620083
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Cleft palate, Feeding difficult...	OMIM:618603
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Cooper-Jabs Syndrome	Frontal bossing, Anteverted nares, Brachycephaly, Respiratory insufficiency, Anteriorly placed an...	ORPHA:1488
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ...	ORPHA:353253
Stickler Syndrome, Type Ii	Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc...	OMIM:604841
Geroderma Osteodysplasticum	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Periodontitis, Malar flattening	OMIM:231070
Renpenning Syndrome	Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5...	ORPHA:3242
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Retrognathia, Wide nasal bridge	OMIM:619844
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Bifid uvula, Midface retr...	OMIM:606164
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Cleft palate, Brachycephaly, Ple...	OMIM:616897
Camptodactyly Syndrome, Guadalajara Type 2	Short stature, Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral ...	ORPHA:1326
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Short stature, Abn...	ORPHA:582
Bachmann-Bupp Syndrome	Thin upper lip vermilion, Focal polymicrogyria, Cryptorchidism, Sensorineural hearing impairment,...	OMIM:619075
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr...	OMIM:617201
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Brachycephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Achondrogenesis, Type Ii	Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Protuberant abdomen,...	OMIM:200610
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Three M Syndrome 2	Short neck, Protruding ear, Pectus carinatum, High palate, Long philtrum, Scapular winging, Lumba...	OMIM:612921
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Abnor...	ORPHA:66625
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Pachygyria, Prominent nose, Optic at...	OMIM:619576
Microphthalmia, Syndromic 3	Anophthalmia, Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Vertebral hypoplasia, Optic...	OMIM:206900
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur...	ORPHA:3015
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Microcephaly, Wide nasal bridge, Brachycephaly, Multifocal cerebral whi...	ORPHA:352530
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Feeding difficulties in infanc...	OMIM:257300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Short stature, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft ...	OMIM:619227
Distal Monosomy 7Q36	Microcephaly, Micrognathia, Non-midline cleft lip, Bulbous nose, Optic atrophy, Cleft palate, Wid...	ORPHA:1636
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short...	ORPHA:3376
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia	ORPHA:3104
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna...	ORPHA:2872
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta...	ORPHA:50815
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Wide nas...	OMIM:620073
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em...	ORPHA:96263
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Trigonocephaly, Cleft palate, Micrognathia	ORPHA:1779
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distenti...	ORPHA:226313
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo...	OMIM:184250
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose	OMIM:613670
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Prominent nasal bridge, Wide nasal bridge, Large fleshy ears, Everted lower lip vermilion, Short ...	OMIM:619556
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, ...	OMIM:614815
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Stankiewicz-Isidor Syndrome	Sacral dimple, Micrognathia, Prominent nose, Short thumb, Patent ductus arteriosus, Absent thumb,...	OMIM:617516
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Narrow palate, Short upper li...	ORPHA:364028
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Microcephaly...	OMIM:241800
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Proptosis, Shallow orbits, Orbital craniosynostosis	OMIM:112240
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Redundant neck skin, Apnea, Micrognathia, Proximal femoral metaphyseal i...	ORPHA:397715
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Brachycephaly, Feeding difficulti...	OMIM:616708
Ichthyosis, Congenital, Autosomal Recessive 4B	Proptosis, Ectropion	OMIM:242500
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Pe...	OMIM:619472
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Brachycephaly, Hypopl...	OMIM:218350
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Frontal bossing, Broad nasal tip, Scaphocephaly, Recurrent pneumonia, High...	OMIM:615637
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of th...	ORPHA:1908
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d...	OMIM:618395
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Short neck, Abnormality of the endocrine system, Crypt...	ORPHA:464288
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Feeding difficulties, High palate, Neonatal death, Retrog...	OMIM:300219
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Short stature,...	OMIM:147250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
6Q25 Microdeletion Syndrome	Micrognathia, Microcephaly, Wide nasal bridge, Cleft palate, Plagiocephaly, High palate, Long phi...	ORPHA:251056
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm...	ORPHA:93958
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Short neck, High, narrow palate, Hydrocephalus, Ileus, Growth delay, Congenital con...	OMIM:620156
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet...	ORPHA:93324
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal ...	ORPHA:228390
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Dental crowding, Microcephaly, Brachycephaly, Cerebral atrophy, Gastroesophageal r...	OMIM:615031
Temple Syndrome	Relative macrocephaly, Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Micr...	OMIM:616222
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor...	OMIM:620186
Hyperekplexia 4	Umbilical hernia, Respiratory failure, High palate, Cerebral atrophy	OMIM:618011
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, M...	OMIM:613603
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala...	OMIM:300373
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Optic disc pallor, Wide anterior fontanel, Feeding difficulties, Respiratory fa...	OMIM:618240
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Long neck, Kyphosis, Limited p...	ORPHA:1724
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Prune1-Related Neurological Syndrome	Micrognathia, Feeding difficulties in infancy, Microcephaly, Optic atrophy, Cerebral atrophy, Res...	ORPHA:544469
Robinow-Sorauf Syndrome	Bilateral ptosis, Hypertelorism, Downslanted palpebral fissures, Shallow orbits	OMIM:180750
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve...	OMIM:613026
Cog7-Cdg	Micrognathia, Postnatal growth retardation, Short neck, Long fingers, Abnormal finger morphology,...	ORPHA:79333
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, High palate, Hyp...	OMIM:156610
Schneckenbecken Dysplasia	Cleft palate, Umbilical hernia, Stillbirth, Protuberant abdomen, Macrocephaly, Malar flattening, ...	OMIM:269250
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Post...	OMIM:614424
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D...	ORPHA:1791
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Downturned corners of mouth, Ga...	ORPHA:261494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Bowel incontinence, Micrognathia, Recurrent p...	ORPHA:496641
Anencephaly 2	Median cleft lip, Anophthalmia, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening, ...	OMIM:184840
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow...	OMIM:236500
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose	ORPHA:2835
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Pa...	OMIM:617604
Acrocephalopolydactyly	Short nose, Oxycephaly, Depressed nasal ridge, Protuberant abdomen	ORPHA:221054
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Mandibular prognathia, Finger syndactyly, Dental crowdi...	ORPHA:435938
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Optic disc pallor, Neonatal respiratory distress, Anteverted nares, Int...	OMIM:244450
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding...	OMIM:618797
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Pontine Tegmental Cap Dysplasia	Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis	OMIM:614688
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Sensorineural hearing...	OMIM:194350
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Mic...	ORPHA:85199
Tick-Borne Encephalitis	Back pain, Stiff neck, Facial palsy, Hearing impairment, Vertigo, Abnormal glossopharyngeal nerve...	ORPHA:297
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ...	OMIM:151210
Ck Syndrome	Microretrognathia, Long toe, Lumbar hyperlordosis, Dental crowding, Prominent nasal bridge, Poste...	ORPHA:251383
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Conductive hearing impairment, Calvaria...	OMIM:616331
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Cupped ear...	OMIM:620192
Trisomy 18	Webbed neck, Pointed helix, Holoprosencephaly, Iris coloboma, Bilateral single transverse palmar ...	ORPHA:3380
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Proximal placement of thumb, High palate, Thickened helices, Clinodactyly of...	OMIM:604314
Meckel Syndrome	Anophthalmia, Micrognathia, Depressed nasal ridge, Encephalocele, Low-set, posteriorly rotated ea...	ORPHA:564
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Micrognathia, High, narrow palate, High palate, Death in childhood, Neonatal respir...	OMIM:214100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Single transverse palmar crease, Flexion contracture, Wrist flexion contract...	ORPHA:254528
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu...	OMIM:604757
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Webbed neck, Downturned corners of mouth, Conductive hearing imp...	ORPHA:2215
Lig4 Syndrome	Malabsorption, Microcephaly, Micrognathia, Wide nasal bridge, Brachycephaly, Thin vermilion borde...	ORPHA:99812
Rhizomelic Syndrome, Urbach Type	Depressed nasal bridge, Micrognathia, Microcephaly, Wide anterior fontanel, Abnormality of the to...	ORPHA:3098
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Brachydactyly, Depressed nasal bridge, Thoracic hypoplasia, Mic...	OMIM:617895
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency, Tongue fascicul...	ORPHA:238329
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Cleft palate, Downturned corners of mouth, Plagiocephaly, Ectopic anus, Sh...	ORPHA:94066
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Dental crowding, Microcephaly, Brachycephaly, Cerebral atrophy, Hypoplasia of the ...	ORPHA:320385
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Micrognathia, Lacunar halos around chondrocytes, Cleft ...	OMIM:256050
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Webbed neck, High pal...	ORPHA:261337
Stickler Syndrome	Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl...	ORPHA:828
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Broad nasal tip, Bifid nasal tip, Wide mouth, Growth delay, Short foot, Median pseudocl...	OMIM:619758
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Abnormal cortical gyration...	ORPHA:2211
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Developmental And Epileptic Encephalopathy 48	Long palpebral fissure, Proptosis, Long eyelashes	OMIM:617276
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bu...	OMIM:618430
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Even-Plus Syndrome	Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Brachycephaly, High palate, H...	OMIM:616854
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesi...	OMIM:619512
8Q12 Microduplication Syndrome	Narrow mouth, Wide nasal bridge, Brachycephaly, Gastroesophageal reflux, Everted lower lip vermil...	ORPHA:228399
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater...	OMIM:615582
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent nose, Long nose, Micrognathia, Short neck, Pachygyria, Iris coloboma, Long philtrum, Pr...	ORPHA:2995
Fraser Syndrome	Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, Vertebral segmentation defect, Hi...	ORPHA:2052
Chromosome 2Q37 Deletion Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Feeding diff...	OMIM:600430
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Posteriorly rotated ears, Short stature, Proximal placement of thumb...	OMIM:620113
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Thi...	OMIM:614607
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Frontal bossing, Low-set, posteriorly rotated ears, Finger syndactyly, Short s...	ORPHA:2994
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ...	OMIM:618870
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver...	OMIM:224300
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency	OMIM:618328
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Flat occiput, Micrognathia, Broad nasal tip, Abdominal distention, Alve...	ORPHA:1655
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach...	ORPHA:2563
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho...	OMIM:613458
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, H...	ORPHA:373
Deafness, Conductive, With Malformed External Ear	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co...	OMIM:221300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Abnormally large globe, Short neck, Accelerated skeletal maturation, Mu...	OMIM:245600
Ablepharon Macrostomia Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W...	ORPHA:920
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Hemi...	ORPHA:77298
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o...	OMIM:200600
Mowat-Wilson Syndrome	Uplifted earlobe, Pectus carinatum, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, S...	OMIM:235730
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Flat occiput, Micrognathia, Feeding difficulties in infancy, Nasogastric tu...	ORPHA:177907
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Abnormality of cartilage of external ear, Wide nasal bridge,...	ORPHA:324313
Stevenson-Carey Syndrome	Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Pierre-Robin sequence, Brac...	OMIM:611961
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Microti...	OMIM:620193
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Fe...	OMIM:608572
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Uplifted earlobe, ...	OMIM:616449
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ...	ORPHA:175
Glass Syndrome	Dental crowding, Apnea, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Antever...	OMIM:612313
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit...	ORPHA:2437
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho...	OMIM:619636
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of...	ORPHA:1812
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Short stature, Decreased response to growth hormone stimulation test, Elevated circula...	OMIM:300845
Ring Chromosome 10 Syndrome	Frontal bossing, Aganglionic megacolon, Sandal gap, Micrognathia, Short neck, Pectus excavatum, T...	ORPHA:1438
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Pachygyria, Optic atrophy, Peripheral dysmyelination,...	OMIM:260565
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Abnormality of the dentition, Carious teeth, Feeding difficul...	ORPHA:1786
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Prominent nose, Head titubation, Protruding ear, Ankle clonus, Long phi...	OMIM:619691
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted nares, Depressed nasal b...	OMIM:254940
Zechi-Ceide Syndrome	Wide nose, Cerebellar vermis hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Wide nasal b...	OMIM:612916
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Microcephaly, Prominent nose, Wide nasal bridge, Brachycephaly, Wide mouth, Umbi...	ORPHA:1292
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Neonatal respiratory distress, Intestinal malrotatio...	ORPHA:457193
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Micrognathia, Pectus ex...	ORPHA:1131
Nemaline Myopathy 8	Death in infancy, Facial palsy, Respiratory failure, Dysphagia, Gastrostomy tube feeding in infancy	OMIM:615348
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Choanal atresia, Micrognathia, Abnormality of the dentition, High, ...	ORPHA:2108
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ...	ORPHA:2484
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Bresek Syndrome	Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydroce...	ORPHA:85284
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxi...	OMIM:607095
Tetanus	Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Abnormal autonomic ...	ORPHA:3299
Platyspondylic Dysplasia, Torrance Type	Malar flattening, Depressed nasal bridge, Abdominal distention, Cleft palate	ORPHA:85166
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Micrognathia, Microcephaly, Downturned corners of mouth, Lissencephaly, Cerebel...	OMIM:616342
Distal Deletion 3P	Anteverted nares, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of ...	ORPHA:1620
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly	OMIM:214300
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generali...	OMIM:618000
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ...	OMIM:253010
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An...	OMIM:164210
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Severe short stature, Depressed nasal bridge, Micrognathia, Joint stiffness, A...	ORPHA:1899
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres...	OMIM:129900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Increased head circu...	OMIM:300868
Bohring-Opitz Syndrome	Joint dislocation, Apnea, Micrognathia, Coloboma, Congenital contracture, Prominent palatine ridg...	ORPHA:97297
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Optic nerve hypoplasia, Tracheomalacia, Broad nasal tip, ...	OMIM:620155
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Cleft palate, Micrognathia	OMIM:183700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Clinodactyly, Fle...	ORPHA:95699
Myasthenic Syndrome, Congenital, 19	Barrel-shaped chest, Facial palsy, Micrognathia, Spinal rigidity, Distal joint laxity, Respirator...	OMIM:616720
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased testicular size, Wide nose, Short stature, Decreased response to growth hormone stimula...	ORPHA:280679
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Toluene Embryopathy	Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal n...	ORPHA:1920
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Depressed nasal bridge, C...	OMIM:604377
Lymphatic Malformation 6	Abnormal pinna morphology, Short stature, Micrognathia, Pectus excavatum, Cupped ear, Hydrocele t...	OMIM:616843
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo...	ORPHA:581
Silver-Russell Syndrome 3	Frontal bossing, Syndactyly, Short stature, Elbow contracture, Unilateral cryptorchidism, Postnat...	OMIM:616489
Acrofrontofacionasal Dysostosis 2	Wide nose, Microcephaly, Wide anterior fontanel, Brachycephaly, High palate	OMIM:239710
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyl...	ORPHA:96092
Pfeiffer Syndrome Type 2	Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal a...	ORPHA:93259
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ...	ORPHA:90646
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:352665
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
1P36 Deletion Syndrome	Depressed nasal ridge, Brachycephaly, Abnormality of the neck, Conductive hearing impairment, Cli...	ORPHA:1606
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnor...	ORPHA:1486
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Brachycephaly, Up...	ORPHA:1827
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Wide nasal bridge, Growth delay, Talipes equinovarus, Camptodactyly, Cervical C2/C...	OMIM:617333
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Frontal bossing, Patent ductus arteriosus, Scaphocephaly, Dental malocc...	OMIM:619149
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, Cerebral atrophy, High palate, Lon...	OMIM:615539
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, De...	OMIM:619720
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Joi...	ORPHA:94065
Doors Syndrome	Respiratory distress, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely ...	ORPHA:79500
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Mi...	ORPHA:2637
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Apne...	OMIM:608013
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Osteopenia, Dental crowding, Abnormally large globe, High palate, Microdon...	OMIM:269300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Abnormality of neuronal migration, Join...	ORPHA:2772
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Short neck, High, narrow palate, Brachycephaly, Knee flexion contrac...	OMIM:613776
Ehlers-Danlos Syndrome, Classic Type, 1	Irregularly spaced teeth, Recurrent sinusitis, Umbilical hernia, Bowel diverticulosis, Narrow max...	OMIM:130000
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Broad nasal tip, Microcephaly, Brachycephaly, Feeding difficulties, High palate,...	ORPHA:3306
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom...	ORPHA:3145
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Feeding difficulties in inf...	OMIM:618371
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Microcephaly, Cleft palate, Respiratory insufficiency, Tooth agenesis, Abnormal low...	ORPHA:1166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Downturned corners of mouth, Coloboma, Oligodontia, Vertebral segmentation defect, Hi...	ORPHA:453499
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Respiratory distress, Depressed nasal bridge, Abnormal cortical gyration, Choana...	OMIM:300968
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Short ...	OMIM:277170
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ...	ORPHA:3236
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Cleft lip, Wide nasal bridge, Cle...	ORPHA:217017
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Opt...	ORPHA:79330
Al Kaissi Syndrome	Thin upper lip vermilion, Macrodontia, Depressed nasal bridge, Microcephaly, Broad nasal tip, Hig...	OMIM:617694
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Respirat...	ORPHA:2590
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Carious ...	OMIM:244460
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi...	OMIM:218040
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Wide anterior fontanel, Reye syndrome-like episodes, Dyspnea, Cardiorespi...	ORPHA:26791
Mosaic Trisomy 9	Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Biparietal...	ORPHA:99776
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Poor suck, Thin corpus callosum	OMIM:616277
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Macrodontia, Microcephaly, Brachycephaly, Everted lower lip vermilion...	ORPHA:228402
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Abnormal cortical gyration, Postaxial polydactyly, Hydrocephalus, Patent ductus...	OMIM:614576
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr...	OMIM:602111
Intellectual Developmental Disorder, Autosomal Dominant 52	Prominent nose, Bilateral cryptorchidism, Pectus carinatum, Downturned corners of mouth, High pal...	OMIM:617796
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Micrognathia, Microcephaly, Diffuse white matter abnormalities, ...	OMIM:259720
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo...	ORPHA:2643
White-Sutton Syndrome	Feeding difficulties in infancy, Hypoplasia of the pons, Brachycephaly, Downturned corners of mou...	ORPHA:468678
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Crania...	ORPHA:268882
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Bulbous nose, Wide nasal bridge, Brachycephaly, ...	OMIM:613174
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner...	OMIM:123450
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Overlapping fingers, Short stature, Protruding tongue, Micrognathia,...	OMIM:608779
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Frontal bossing, Depressed nasal bridge, Megalencephaly, Asthma, Macrocephal...	ORPHA:457485
Microcephaly 8, Primary, Autosomal Recessive	Retrognathia	OMIM:614673
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal ...	ORPHA:3035
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Nijmegen Breakage Syndrome	Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Microcephaly, Prominent nose, Deep...	ORPHA:647
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Spina bifida, Gingiva...	ORPHA:3219
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, High, narrow pa...	OMIM:309583
Kniest Dysplasia	Respiratory distress, Depressed nasal bridge, Tracheomalacia, Cleft palate, Umbilical hernia, Abn...	OMIM:156550
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Dyspnea, Sensorineural hearing impai...	OMIM:615636
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Wide nose, Thoracic scoliosis, Recurrent fractures, Sensorineural hearing impair...	OMIM:606056
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi...	OMIM:619194
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Brachydactyly, Single transverse ...	OMIM:618950
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro...	ORPHA:235
Muscular Dystrophy, Congenital, 1B	Facial palsy, Spinal rigidity, Achilles tendon contracture, Respiratory failure, Shoulder girdle ...	OMIM:604801
Pfeiffer Syndrome	Mandibular prognathia, Turricephaly, Wide nasal bridge, High palate, Hypoplasia of the zygomatic ...	ORPHA:710
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pyloric sten...	ORPHA:314575
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Short stature, Abnormal odontoid process morphology, Abnormali...	ORPHA:314621
Odontochondrodysplasia 1	Delayed eruption of teeth, Relative macrocephaly, Death in infancy, Respiratory distress, Macroce...	OMIM:184260
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Congenital Myopathy 13	Hypercapnia, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Feeding difficulties, Downt...	OMIM:255995
Pontocerebellar Hypoplasia, Type 1F	Depressed nasal bridge, Anteverted nares, Growth delay, Thick vermilion border, Long philtrum, Re...	OMIM:619304
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, Abnormal shoulder morphology,...	OMIM:274000
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Underdevelop...	ORPHA:217346
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narrow c...	OMIM:269860
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
Hartsfield Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Non-m...	ORPHA:2117
Cranioectodermal Dysplasia 2	Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdonti...	OMIM:613610
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ...	OMIM:135900
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat...	ORPHA:158687
Baller-Gerold Syndrome	Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Malabsorption, Brachy...	ORPHA:1225
Bamforth-Lazarus Syndrome	Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Adnp Syndrome	Respiratory distress, Oral-pharyngeal dysphagia, Brachycephaly, Vomiting, Gastroesophageal reflux...	ORPHA:404448
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Int...	ORPHA:258
Pontocerebellar Hypoplasia Type 1	Hypoplasia of the pons, Optic atrophy, Feeding difficulties, Thin corpus callosum, Congenital lar...	ORPHA:2254
Gaucher Disease, Type Ii	Death in infancy, Apnea, Cough, Trismus, Cerebral atrophy, Feeding difficulties, Stridor, Gastroe...	OMIM:230900
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Respiratory distress, Hypoventilation, Neonatal respiratory distress, Faci...	ORPHA:98915
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Abdominal distention, Optic atrophy, Frontotemporal cerebral atrophy	ORPHA:79097
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space...	OMIM:601349
Thyroid Hemiagenesis	Macroglossia, Umbilical hernia, Constipation, Abdominal distention	ORPHA:95719
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Adrenal hypoplasia...	OMIM:607932
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of...	ORPHA:1110
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Schimke Immuno-Osseous Dysplasia	Depressed nasal bridge, Broad nasal tip, Abdominal distention, Abnormal primary molar morphology,...	ORPHA:1830
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Aqueductal stenosis, Short neck, Simplified gyral pattern, Narrow chest...	OMIM:251230
Snijders Blok-Fisher Syndrome	Cryptorchidism, Cupped ear, Protruding ear	OMIM:618604
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Periventricular nodular...	OMIM:603671
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Proptosis	OMIM:606893
Juvenile Nasopharyngeal Angiofibroma	Proptosis	ORPHA:289596
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, High palate, Long philtrum, Depressed nasal bridge, Delayed skeletal ma...	OMIM:261515
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Downslanted palpebral fissures, Shallow orbits	ORPHA:1129
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Prom...	OMIM:619244
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion c...	OMIM:601559
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret...	ORPHA:2521
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocepha...	OMIM:615433
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Muenke Syndrome	High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening,...	ORPHA:53271
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Feeding diff...	OMIM:615663
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Anteverted nares, Short stature, De...	OMIM:157800
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Short stature, Recurren...	OMIM:616229
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we...	ORPHA:254875
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Frontal bossing, Flat occiput, Carious teeth, Wide nasal bridge, Protu...	OMIM:277440
Otofaciocervical Syndrome 1	Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Long neck, Hypoplasia of the ...	OMIM:166780
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff...	ORPHA:596
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Delayed skeletal maturation, Bell-shaped thorax, Growth delay, Abnormal posturing, ...	OMIM:614857
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent nasal bridge,...	OMIM:300749
Joubert Syndrome 15	Exencephaly	OMIM:614464
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, High, narrow palate, D...	OMIM:607597
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Frontal cortical atrophy, Brachycephaly, Macrocephaly	OMIM:300699
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, A...	OMIM:239300
Deeah Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,...	OMIM:619004
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic...	ORPHA:989
Volvulus Of Midgut	Frontal bossing, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, C...	OMIM:193250
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Respiratory failure, Gastroesophageal reflux, Decreased liver function, Abnormal c...	ORPHA:70472
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Abnormal sperm motility, ...	ORPHA:244
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Anteverted nares, Basal ganglia calcification, Bulbous nose, Optic at...	OMIM:616505
Cog5-Cdg	Posteriorly rotated ears, Short stature, Camptodactyly of finger, Prominent nose, Short neck, Cry...	ORPHA:263487
Dyskeratosis Congenita	Esophageal stenosis, Cerebral calcification, Abnormality of the dentition, Hypoplasia of the maxi...	ORPHA:1775
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Feeding difficulties	OMIM:616341
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Microcephaly, Carious teeth, Brachycephaly, Dysph...	OMIM:619229
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism	ORPHA:2165
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Patent ductus ar...	OMIM:601186
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Posteriorly rotated ears...	OMIM:224410
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy,...	OMIM:261540
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Frontal bossing, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of tongu...	OMIM:617925
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Clinodactyly, Downturned corners of mouth, Widely spaced teeth, Short philtrum, ...	OMIM:301044
Alg9-Cdg	Villous atrophy, Micrognathia, Brachycephaly, Vomiting, Gastroesophageal reflux, Bifid uvula, Mic...	ORPHA:79328
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos...	ORPHA:508488
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Micrognathia, Cranial nerve compression, Brachycephaly, High palate, Conducti...	ORPHA:2785
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Anophthalmia, Micrognathia, Abnormality of the ear, Abnormality of the anus...	ORPHA:2556
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Short stature, Spina bifida, Micrognathia, Trach...	ORPHA:1393
Tetraploidy	Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Convex nasal ridge	ORPHA:3305
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Poor appetite, Abdominal pain	OMIM:616794
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Fibrochondrogenesis	Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Depresse...	ORPHA:2021
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia	OMIM:607598
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge...	OMIM:616914
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Distal Deletion 10P	Micrognathia, Microcephaly, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Ectopic anus,...	ORPHA:1580
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Smo...	ORPHA:1778
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Underdeveloped nas...	ORPHA:1968
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:3455
Hypophosphatasia, Childhood	Proptosis	OMIM:241510
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening	ORPHA:166100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap...	OMIM:608836
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Cleft upper lip, Optic atrophy, Wide nasal bridge, Cleft palate, Brachycep...	OMIM:201180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Proptosis	OMIM:616171
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Microcephaly, Feeding difficulties, Hypodontia, Hypopl...	ORPHA:544503
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Short stature, Overlapping toe, Dolichocephaly, Short neck, C...	OMIM:618571
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Micrognath...	ORPHA:513456
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Redundant neck skin, Posteriorly rotated ears, Growth delay, Low-set ears, Retr...	OMIM:611719
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Bulbous nose, Wide nasal bridge, Thick vermilion border, Retrognathia	OMIM:615979
Intellectual Developmental Disorder, Autosomal Dominant 21	Microcephaly, Narrow mouth, Patent ductus arteriosus, Cleft palate, Feeding difficulties, Thin ve...	OMIM:615502
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Par...	OMIM:119600
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Bulbous n...	ORPHA:293725
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Clinodactyly, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Short ...	OMIM:618529
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Respiratory failure, Cerebral atrophy, Dysphagia	OMIM:618637
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Wide mouth, Macroglossia, P...	OMIM:616789
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphy...	ORPHA:73230
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Frontal bossing, Depressed nasal bridge, Hydrocephalus, Patent ductus arterios...	OMIM:220220
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Short palm, Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cry...	ORPHA:73246
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Macrotia, Optic atrophy, Hypoplasia of teeth, Growth delay, Microphthalmia, Sho...	OMIM:234050
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Joint stiff...	ORPHA:1752
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Micrognathia, Microcephaly, Trismus, Bulbous nose, Recurrent pneumonia, Cer...	OMIM:616271
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Cutis Laxa, Autosomal Recessive, Type Iie	Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow	OMIM:619451
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches...	ORPHA:96061
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Microcephaly, Brachycephaly, Wide mouth, Long philtrum, ...	OMIM:608776
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ...	ORPHA:590
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis	ORPHA:85172
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum...	OMIM:271665
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi...	OMIM:605809
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flex...	ORPHA:800
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, K...	ORPHA:2769
Kury-Isidor Syndrome	Frontal bossing, Tented upper lip vermilion, Anteverted nares, Brachycephaly, Feeding difficultie...	OMIM:619762
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Microcephaly, Underdeveloped nasal alae, High, narrow palate, Micrognathia, Cleft palate	ORPHA:2516
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Microcephaly, Temporal cortical atrophy, Brachycephaly, Feeding difficu...	OMIM:618862
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn...	ORPHA:98913
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Short philtrum, Narrow chest,...	ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Sensorineural hearing impai...	OMIM:619737
Achondroplasia	Respiratory distress, Death in infancy, Frontal bossing, Depressed nasal bridge, Megalencephaly, ...	OMIM:100800
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent crus of ...	ORPHA:1449
3C Syndrome	Micrognathia, Feeding difficulties in infancy, High, narrow palate, Orofacial cleft, Gastroesopha...	ORPHA:7
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Optic neuropathy, Kyphoscoliosis, Pectus excavatum, Sensorineural hearing impa...	OMIM:620237
Short Stature-Micrognathia Syndrome	Joint laxity, Short stature, Rhizomelia, Micrognathia, Accelerated skeletal maturation, Bowing of...	OMIM:617164
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly	ORPHA:2898
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Optic atrophy, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocep...	ORPHA:272
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Partial ag...	OMIM:270400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis...	OMIM:604292
Achard Syndrome	Broad skull, Brachycephaly, Micrognathia	OMIM:100700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cleft palate...	ORPHA:96184
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Downslanted palpebral fissures	ORPHA:157965
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Antevert...	OMIM:607812
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties	ORPHA:26792
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Short stature...	ORPHA:261330
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ...	OMIM:616974
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Craniosynostosis 6	Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachyceph...	OMIM:616602
Acces Syndrome	Supernumerary nipple, Hip dislocation, Tracheoesophageal fistula, Protruding ear, Hip dysplasia, ...	OMIM:619959
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Short philtrum, Scol...	ORPHA:480898
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Short philtrum, Gastroe...	OMIM:616268
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short neck, Deep philtrum, Finger joint hypermobility, Long philtrum, Joint laxity, Depressed nas...	OMIM:613563
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep philtrum, Patent duc...	OMIM:615398
Acrofrontofacionasal Dysostosis	Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion,...	ORPHA:1784
Poikiloderma With Neutropenia	Joint laxity, Frontal bossing, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, ...	OMIM:604173
Atelosteogenesis Type Ii	Thin upper lip vermilion, Bilateral cleft palate, Micrognathia, Tracheobronchomalacia, Cleft pala...	ORPHA:56304
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
19P13.3 Microduplication Syndrome	Micrognathia, Microcephaly, Prominent nose, Underdeveloped nasal alae, Cleft palate, Cerebral atr...	ORPHA:447980
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid...	OMIM:620076
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,...	OMIM:618736
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Arachnodactyl...	ORPHA:2461
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Broad nasal tip, Short neck, Thickened cortex of long bone...	ORPHA:488434
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent...	ORPHA:1692
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft...	ORPHA:3253
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, High...	OMIM:620330
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnormally ossified vertebrae, Micr...	ORPHA:3301
Hamamy Syndrome	Thin upper lip vermilion, Anteverted nares, Craniosynostosis, Micrognathia, Dental malocclusion, ...	OMIM:611174
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Donnai-Barrow Syndrome	Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism	ORPHA:2143
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Celiac Disease, Susceptibility To, 1	Cerebral calcification, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting,...	OMIM:212750
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Short stature, Hypogonadotropic hypogonadism, Esophageal a...	OMIM:301030
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb, Patent duct...	ORPHA:2712
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve acti...	OMIM:606071
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Brachycephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum	OMIM:614800
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Abnormal mandible condylar process morphology, Abnormal ethmoid bone morphology, ...	ORPHA:2976
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae,...	ORPHA:3404
Monosomy 9Q22.3	Short neck, Accelerated skeletal maturation, Palmar pits, Orofacial cleft, Odontogenic keratocyst...	ORPHA:77301
Arthrogryposis Multiplex Congenita 5	Micrognathia, Short neck, Flexion contracture, Death in infancy, Neonatal respiratory distress, A...	OMIM:618947
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Spina bifida occulta, Proptosis, Ptosis	ORPHA:1185
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Dominant Beta-Thalassemia	Frontal bossing, Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea,...	ORPHA:231226
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Prominent nasal bridge, Short...	ORPHA:3068
Lambert Syndrome	Wide mouth, Malar flattening, Branchial anomaly, Intrauterine growth retardation	ORPHA:1296
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu...	OMIM:617977
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender lo...	OMIM:618265
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Aplasia of the thymus, Single tr...	ORPHA:96123
Down Syndrome	Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, T...	ORPHA:870
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Cerebral atrophy, Feeding difficulties, Respirat...	OMIM:245400
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, Hypoplas...	ORPHA:958
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of ...	ORPHA:2309
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Brachyceph...	OMIM:619950
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum...	ORPHA:1974
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Abnormality of the denti...	ORPHA:261112
Thanatophoric Dysplasia, Type I	Frontal bossing, Neonatal respiratory distress, Cloverleaf skull, Hydrocephalus, Temporal lobe dy...	OMIM:187600
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Hol...	ORPHA:818
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Anteverte...	ORPHA:1512
Cornelia De Lange Syndrome 1	Micrognathia, High, narrow palate, Brachycephaly, Downturned corners of mouth, Widely spaced teet...	OMIM:122470
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Brachycephaly, Wide mouth, Plagiocephaly, Thick vermilion borde...	OMIM:619435
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Brachycephaly...	ORPHA:521445
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F...	ORPHA:2092
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder...	OMIM:212112
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Prominent occiput, Hypoxemia, High palate, Hypoplasia of the z...	ORPHA:556955
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Deeply set eye, Proptosis	OMIM:618707
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia...	OMIM:615959
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Under...	OMIM:616835
Contractural Arachnodactyly, Congenital	Frontal bossing, Micrognathia, Patent ductus arteriosus, Scaphocephaly, Brachycephaly, High palat...	OMIM:121050
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Sensorineura...	OMIM:619269
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Split hand, Cupped ear, Patellar aplasia, Hand monodacty...	OMIM:119100
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Depressed nasal ridge, Respiratory failure, Limb unde...	ORPHA:1861
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He...	ORPHA:2031
De Barsy Syndrome	Delayed eruption of teeth, Cerebellar vermis hypoplasia, Narrow mouth, Patent ductus arteriosus, ...	ORPHA:2962
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Alagille Syndrome	Frontal bossing, Micrognathia, Long nose, Brachycephaly, Short philtrum, Spina bifida occulta	ORPHA:52
Frontonasal Dysplasia 3	Brachycephaly, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae	OMIM:613456
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, B...	OMIM:249420
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Midface retrusion, Depressed nasal bridge, Micrognathia, Patent ductus art...	ORPHA:85276
Trisomy 17P	Wide nose, Micrognathia, Microcephaly, Prominent nose, Patent ductus arteriosus, Hydrocephalus, O...	ORPHA:261290
Severe Congenital Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ...	ORPHA:171430
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Vomiting, Macrocephaly, Neo...	OMIM:231680
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Hearing impairment, Abnormality of the dentition, Carious teeth, Long nose, Thin...	ORPHA:363444
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Non-midline cleft lip, Cl...	ORPHA:1915
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Anteverted nares, Absent septum pellucidum, Protruding tongue, Microcephaly, Brachy...	ORPHA:96147
Caudal Regression Syndrome	Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ...	ORPHA:3027
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Microcephaly, Micrognathia, Broad nasal tip, Cleft palate, Bifid nose, Narrow mouth	OMIM:239800
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Short philtrum, Hypoplasia of the thymus, Conductive hearing impairment...	ORPHA:567
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Sho...	OMIM:609053
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum	OMIM:611867
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ...	OMIM:110100
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum	OMIM:614120
Proboscis Lateralis	Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol...	ORPHA:141099
Distal Deletion 12Q	Frontal bossing, Median cleft lip, Anteverted nares, Micrognathia, Microcephaly, High, narrow pal...	ORPHA:96149
Lig4 Syndrome	Prominent nose, Microcephaly, Asthma, Brachycephaly, Wide nasal bridge, Chronic sinusitis	OMIM:606593
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Optic disc pallor, Communicating hydrocephalus, Depressed nasal bridge, Pn...	ORPHA:309282
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti...	OMIM:601088
Progressive Non-Infectious Anterior Vertebral Fusion	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Brachycephaly, Wide mouth, Thin vermilio...	ORPHA:2062
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Or...	OMIM:601701
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Frontal bossing, Midface retrusion, Anteverted nares, Depressed nasal bridg...	ORPHA:536467
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cleft upper lip...	OMIM:242840
Sialuria	Thin upper lip vermilion, Frontal bossing, Wide nasal bridge, Macrocephaly, Macroglossia, High pa...	OMIM:269921
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we...	OMIM:607155
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Microcephaly, Broad n...	OMIM:617157
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ...	ORPHA:2879
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Patent ductus arteriosus, Diarrhea, Protein-losing entero...	OMIM:608104
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Short thu...	ORPHA:1120
Emanuel Syndrome	Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Cough, Agenesis of corpus ca...	ORPHA:96170
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Web...	OMIM:115150
Diamond-Blackfan Anemia 10	Respiratory distress, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate, Mala...	OMIM:613309
Gaba-Transaminase Deficiency	Retrognathia, Death in childhood	OMIM:613163
Oculomaxillofacial Dysostosis	Median cleft lip, Abnormality of the dentition, Micrognathia, Abnormality of the nose, Underdevel...	ORPHA:1794
Blepharocheilodontic Syndrome 1	Lagophthalmos, Hypertelorism, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Dist...	OMIM:119580
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Downslanted palpebral fissures	OMIM:618821
Cree Mental Retardation Syndrome	Brachycephaly, Cleft soft palate, Micrognathia	OMIM:606851
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari...	ORPHA:139471
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosynostosis, Mi...	ORPHA:369837
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Abnormal pinna morphology, ...	ORPHA:261211
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnormal posturing	OMIM:128100
Toriello-Carey Syndrome	Neonatal respiratory distress, Aganglionic megacolon, Micrognathia, Feeding difficulties in infan...	ORPHA:3338
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar ver...	ORPHA:254346
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever...	OMIM:311900
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Abd...	ORPHA:92050
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e...	OMIM:616294
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri...	ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Pineal cyst, Sho...	ORPHA:529962
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Papilledema, Depressed nasal bridge, Facial palsy, Sclerotic s...	OMIM:269500
Orofaciodigital Syndrome Type 6	Frontal bossing, Cerebellar vermis hypoplasia, Apnea, Prominent nasal bridge, Hamartoma of tongue...	ORPHA:2754
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Flat occiput, Protuberant abdomen, Enamel hypoplasia	OMIM:264700
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,...	ORPHA:1295
Opitz-Kaveggia Syndrome	Dental crowding, Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Anteriorl...	OMIM:305450
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Choanal atresia, Abdominal distention, Optic disc coloboma, Secretory dia...	OMIM:270420
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Lip pit, Microcephaly, Brachycephaly, Hypodontia, Abnorma...	ORPHA:1236
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen...	OMIM:618500
Bloom Syndrome	Pneumonia, Stomach cancer, Micrognathia, Esophageal neoplasm, Poor appetite, Chronic pulmonary ob...	ORPHA:125
Xq21 Microdeletion Syndrome	Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit...	ORPHA:1435
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin...	ORPHA:217085
Metaphyseal Chondrodysplasia, Jansen Type	Choanal atresia, Micrognathia, Brachycephaly, Choanal stenosis, Tooth malposition	OMIM:156400
Arterial Tortuosity Syndrome	Respiratory distress, Craniosynostosis, Hiatus hernia, Abnormal zygomatic bone morphology, Pylori...	ORPHA:3342
Primrose Syndrome	Cerebral calcification, Anteverted nares, Depressed nasal bridge, Calcification of the auricular ...	OMIM:259050
Beta-Thalassemia Major	Frontal bossing, Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea,...	ORPHA:231214
Marden-Walker Syndrome	Anteverted nares, Micrognathia, Microcephaly, High, narrow palate, Pyloric stenosis, Wide anterio...	OMIM:248700
Zimmermann-Laband Syndrome 2	Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Macroglossia, Thi...	OMIM:616455
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Promin...	ORPHA:96191
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Peripheral axonal neuropathy, Neonatal respiratory distress, Abnormal cortical gyration, Multiple...	OMIM:616867
Mucolipidosis Ii Alpha/Beta	Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Myelopathy, Recurrent p...	OMIM:252500
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ...	OMIM:225790
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Developmental And Epileptic Encephalopathy 75	Upslanted palpebral fissure, Proptosis, Hypertelorism	OMIM:618437
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the ...	OMIM:617822
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Short stature, Malabsorption, Macrotia, Flexion contrac...	OMIM:601675
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal nerve conduction velocity, Abnormal vertebral ...	ORPHA:93473
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasa...	OMIM:619005
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Conductive hearing impairment, Pap...	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin...	ORPHA:217093
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Cleft...	OMIM:603736
Optic Pathway Glioma	Hydrocephalus, Proptosis	ORPHA:2086
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Camptodactyly of finger, Decreased nerve conduction velocity, Axo...	OMIM:604320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Poor appetite, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea,...	ORPHA:352447
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Short thumb, Patent ductus arteriosus, Cleft palate, Growth delay,...	OMIM:612561
Floating-Harbor Syndrome	Narrow nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celi...	ORPHA:2044
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ...	ORPHA:1517
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate...	OMIM:300000
Say Syndrome	Microcephaly, Cleft palate, Micrognathia	OMIM:181180
Rhombencephalosynapsis	Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Finger syndactyly, A...	ORPHA:59315
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Frontal bossing, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Apnea, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot po...	OMIM:617563
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Microcephaly, Alveolar ridge overgrowth, Gingival overgrowth, Neuronal...	OMIM:301072
Diabetic Embryopathy	Frontal bossing, Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of t...	ORPHA:1926
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Clinodactyly of the 5th finger, Hypo...	ORPHA:3047
Leigh Syndrome	Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Hepatocellular necros...	OMIM:256000
Alg1-Cdg	Chronic diarrhea, Cerebral atrophy, Respiratory failure, Protein-losing enteropathy, Decreased li...	ORPHA:79327
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Microcephaly, Micrognathia, Asthma, Tachypnea, Pneumothorax...	ORPHA:2257
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na...	OMIM:105650
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor...	ORPHA:1506
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Epiphyseal dysplas...	ORPHA:1675
Trisomy 12P	Turricephaly, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted...	ORPHA:1699
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Microcephaly, Abdominal distention, Feeding difficulties, Gast...	OMIM:620275
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Micrognat...	ORPHA:85184
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Depressed nasal bridge, Optic atrophy, Brachycephaly, Dysphagia, Po...	OMIM:612379
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Optic atrophy, Gingival overgrowth, Short upper lip, Short philtrum, Scoliosis, Pro...	OMIM:616875
Hypotonia-Cystinuria Syndrome	Growth delay, Frontal bossing, Retrognathia, Dolichocephaly	ORPHA:163690
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Pfeiffer Syndrome Type 3	Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal...	ORPHA:93260
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Microcephaly, Pierre-Robin sequence, Wide nasal b...	OMIM:619980
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Brachycephaly, Posterior rib fusion, Neonatal death, Neonatal respiratory distress,...	OMIM:265380
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Jacobsen Syndrome	Flat occiput, Micrognathia, Short neck, Flexion contracture, Holoprosencephaly, Chorioretinal col...	OMIM:147791
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Short stature, Cupped ear, Protruding ear, Growth delay, Macroglossia	ORPHA:93947
Hurler Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Crania...	OMIM:607014
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia	OMIM:613435
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Brachycephaly, Cleft palate, Cere...	OMIM:601353
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur...	OMIM:263000
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Pachygyria, Broad columella, Iris coloboma, Lo...	ORPHA:2308
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protrudin...	OMIM:300966
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi...	ORPHA:46059
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cleft hard palate, ...	ORPHA:166016
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly	ORPHA:93274
Microhydranencephaly	Hydranencephaly, Proptosis	OMIM:605013
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Iris coloboma, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, ...	ORPHA:2250
22Q11.2 Duplication Syndrome	Wide nose, Microcephaly, Micrognathia, Depressed nasal ridge, Cleft palate, Midface retrusion, Sm...	ORPHA:1727
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin...	ORPHA:364577
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum	OMIM:614741
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Desbuquois Syndrome	Abnormal eyelash morphology, Proptosis	ORPHA:1425
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Epistaxis, Microcephaly, Patent ductus arteriosus, Tented philtrum, Bulbous nose, Brac...	ORPHA:495818
Omodysplasia 2	Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Microgn...	OMIM:164745
Choanal Atresia	Respiratory distress, Craniosynostosis, Upper airway obstruction, Feeding difficulties, Nasal con...	ORPHA:137914
Congenital Fiber-Type Disproportion Myopathy	Dental crowding, Poor appetite, Micrognathia, Hypercapnia, Nasogastric tube feeding in infancy, I...	ORPHA:2020
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o...	OMIM:619466
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Prominent nasal bridge, Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Death ...	OMIM:604273
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, High palate, Syndactyly, Anteverted nares, Hiatus herni...	OMIM:619488
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Townes-Brocks Syndrome 2	Cupped ear, Microtia, Rectovaginal fistula, Scoliosis, Overfolded helix, Spina bifida occulta, An...	OMIM:617466
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Micrognat...	OMIM:247200
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclusion, Wide m...	OMIM:612731
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis, Midface retr...	ORPHA:440354
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Short neck, Long neck, 2-3 toe cutaneous syndact...	OMIM:301091
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Frontal bossing, Micrognathia, Feeding difficulties in infancy, Asthma, Cl...	ORPHA:397590
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Choanal...	ORPHA:83617
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Anteverted...	OMIM:108300
Peroxisome Biogenesis Disorder 13A (Zellweger)	Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Feeding difficulties, Gray...	OMIM:614887
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Spinocerebellar Ataxia Type 3	Proptosis	ORPHA:98757
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Microgn...	ORPHA:1358
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Narrow nasal ridge, Brachycephaly, Narrow mouth, Umbilical hernia, Episodic vomi...	OMIM:219150
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Prominent nasal bridge, Microcephaly, Brachycephaly, Feeding difficul...	OMIM:618885
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla...	OMIM:612852
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ...	OMIM:619859
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Microcephaly, Brachycephaly, Cerebral atrophy, Wide m...	OMIM:103050
Bartsocas-Papas Syndrome	Median cleft lip, Microcephaly, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mou...	ORPHA:1234
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate...	OMIM:619074
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, High palate, Short nose, Midface retr...	ORPHA:93258
Alg3-Cdg	Osteopenia, Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endocrine syst...	ORPHA:79321
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis,...	ORPHA:449563
Houge-Janssens Syndrome 3	Umbilical hernia, Epicanthus, Proptosis, Hypertelorism	OMIM:618354
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Abnormal posturing, Increased susceptibility to fractures	ORPHA:216866
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Shallow orbits	OMIM:224400
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris...	OMIM:142945
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Prominent nasal bridge, Oral-pharyngeal dysphagia, Microcephaly, Long nose, Trac...	OMIM:619184
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n...	ORPHA:220497
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology	ORPHA:137596
Cohen-Gibson Syndrome	Osteopenia, Accelerated skeletal maturation, Flexion contracture, Long ear, Hypoplastic iliac win...	OMIM:617561
Cardiofaciocutaneous Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Feeding difficulties in infancy, Hydro...	ORPHA:1340
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Anteverted nares, Depressed nasal bridge, Abdominal distention, Hypopl...	OMIM:618528
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Depressed nasal bridge, Reduced cerebral white matter...	OMIM:280000
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Tented upper lip vermilion, Facial palsy, Pneumonia, Cryptorchidism, Flexion contra...	ORPHA:98905
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Micrognathia, Laryngotracheomalacia, Short philtrum, Anteverted nar...	OMIM:618454
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Feeding difficulties, Death in childhood, Respiratory failure, Stillbirth, Tong...	OMIM:614922
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha...	OMIM:603116
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Malar prominence, Optic atrophy, Wide mouth, Hypoplasia of the zygomatic b...	ORPHA:2715
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Preaxial polydactyly, Simplified gyral pattern, Aplasia of...	OMIM:615948
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel...	ORPHA:268261
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Protruding ear, Abnormal s...	ORPHA:2953
Blomstrand Lethal Chondrodysplasia	Accelerated skeletal maturation, Micrognathia, Narrow chest, Neonatal short-limb short stature, D...	ORPHA:50945
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Torticollis, Broad hallux, Under...	ORPHA:276432
Thanatophoric Dysplasia	Hydrocephalus, Proptosis, Downslanted palpebral fissures	ORPHA:2655
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Loeys-Dietz Syndrome 4	Joint laxity, Torticollis, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the ...	OMIM:614816
Intellectual Developmental Disorder, Autosomal Dominant 68	Frontal bossing, Posteriorly rotated ears, Broad hallux, Bulbous nose, Patent ductus arteriosus, ...	OMIM:619934
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Micrognathia, Short neck, Missing ribs, Hydrocephalus, Ab...	ORPHA:1834
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Dandy-Walker malformation, Wide nose, Depressed nasal bridge, Cleft upper lip, M...	ORPHA:93271
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Bangstad Syndrome	Severe short stature, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonada...	OMIM:210740
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Isolated Sedoheptulokinase Deficiency	Hypotelorism, Abnormality of globe location, Shallow orbits	ORPHA:440713
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Optic atroph...	OMIM:608688
Mend Syndrome	Redundant neck skin, Micrognathia, High palate, Microretrognathia, Short stature, Broad hallux, C...	OMIM:300960
Acalvaria	Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal migration, Cleft...	ORPHA:945
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Microcephaly, Micrognathia, Hydrocephalus, Wide nasal bridge, Cleft p...	ORPHA:1865
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Depressed nasal bridge, Micrognathia, Cleft palate, Respiratory insufficie...	ORPHA:994
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Respiratory distress, Depressed nasal bridge, Antev...	OMIM:618188
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco...	OMIM:184253
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:619426
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou...	ORPHA:454836
Porphyria Due To Ala Dehydratase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficiency, Constipation, Episodic...	ORPHA:100924
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Long philtrum, ...	ORPHA:955
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Pierre-Robin sequence, Recu...	OMIM:215150
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear...	ORPHA:2751
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia, Supernumerary nipple, Hearing impairment, Protruding ear	ORPHA:1809
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Ga...	OMIM:618268
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Narrow nose, Micrognathia, Bulbous nose, Asthma, Cleft palate, Feeding diffi...	OMIM:615656
Snakebite Envenomation	Epistaxis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Vomiti...	ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Thin upper lip vermilion, Wide nose, Patent ductus arteriosus, Recurrent up...	OMIM:607143
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Fibrous Dysplasia Of Bone	Abnormal occipital bone morphology, Abnormal zygomatic bone morphology, Abnormal facial skeleton ...	ORPHA:249
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Abnormally large globe, Cryptorchidism, Retrognathia, Convex nasal ridge, E...	OMIM:210700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond...	OMIM:117650
Hepatic Veno-Occlusive Disease	Respiratory failure, Abdominal pain	ORPHA:890
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Microcephaly	OMIM:309541
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi...	OMIM:243605
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:881
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Op...	ORPHA:99742
Johnson Neuroectodermal Syndrome	Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Cleft palate, ...	ORPHA:2316
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra...	OMIM:615220
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, In...	ORPHA:195
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Feeding difficulties, Respira...	OMIM:618233
Beck-Fahrner Syndrome	Microcephaly, Feeding difficulties in infancy, Brachycephaly, High palate, Macrocephaly, Open mou...	OMIM:618798
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal ...	OMIM:618005
Maternal Phenylketonuria	Anteverted nares, Micrognathia, Microcephaly, Esophageal atresia, Wide nasal bridge, High palate,...	ORPHA:2209
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone,...	OMIM:613717
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Severe short stature, Depressed nasal bridge, Osteomalacia, Microg...	ORPHA:1901
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Underdeveloped nasal a...	OMIM:619127
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr...	ORPHA:2538
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Flat occiput, Protuberant abdomen, Enamel hypoplasia	ORPHA:289157
Warburg Micro Syndrome 2	Prominent nasal bridge, Microcephaly, Optic atrophy, Brachycephaly, Secondary microcephaly, Hypop...	OMIM:614225
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Proptosis, Hypertelorism	OMIM:618961
Camptodactyly Syndrome, Guadalajara, Type Iii	Torticollis, Small hypothenar eminence, Abnormal pinna morphology, Short neck, Delayed skeletal m...	OMIM:611929
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Abnormal per...	ORPHA:1145
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Severe short stature, Optic atrophy, Wide nasal bridge...	ORPHA:2526
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia, Wide nasal bridge	OMIM:618402
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure, Anorexia	OMIM:619386
Peters Plus Syndrome	Micrognathia, Feeding difficulties in infancy, Brachycephaly, Widely spaced teeth, Spina bifida o...	ORPHA:709
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti...	OMIM:183900
Chops Syndrome	Brachydactyly, Anteverted nares, Short stature, Tracheomalacia, High, narrow palate, Patent ductu...	OMIM:616368
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Orofacial cleft, Brachycepha...	ORPHA:1519
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Anteverted nares, Micrognathia, Feeding difficulties in infancy, Dysplastic corpus callosum, Wide...	OMIM:618810
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia	ORPHA:77260
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Proptosis	ORPHA:2774
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Proptosis	OMIM:617481
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, P...	ORPHA:2347
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Pectus excavatum, Submuco...	OMIM:619122
Caffey Disease	Proptosis	ORPHA:1310
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial...	OMIM:225500
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati...	ORPHA:2750
Roberts Syndrome	Craniosynostosis, Cleft upper lip, Micrognathia, Microcephaly, Underdeveloped nasal alae, Brachyc...	ORPHA:3103
Restrictive Dermopathy 1	Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, ...	OMIM:275210
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, C...	OMIM:610125
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Facial ...	OMIM:211530
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal...	OMIM:615838
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depressed nasal ri...	ORPHA:3474
Iniencephaly	Abnormal occipital bone morphology, Orofacial cleft, Holoprosencephaly, Encephalocele, Rhizomelia...	ORPHA:63259
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron...	OMIM:620233
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Nipah Virus Disease	Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough	ORPHA:99825
Filippi Syndrome	Proptosis	OMIM:272440
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi...	ORPHA:534
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Short neck, Bulbous nose...	ORPHA:1780
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Lissencephaly, Mild short ...	OMIM:614833
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca...	ORPHA:363958
Boomerang Dysplasia	Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae	OMIM:112310
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, High, narrow palate, Widely spaced teeth, Short philtrum, Gastro...	OMIM:300967
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n...	ORPHA:220493
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Increased...	ORPHA:558
Oculocerebrocutaneous Syndrome	Finger syndactyly, Short distal phalanx of finger, Congenital hip dislocation, Missing ribs, Exte...	ORPHA:1647
Cranioectodermal Dysplasia 1	Frontal bossing, Anteverted nares, Sagittal craniosynostosis, Dolichocephaly, High, narrow palate...	OMIM:218330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Widely spaced teeth, High pal...	OMIM:612474
Marshall Syndrome	Thickened calvaria, Midface retrusion, Anteverted nares, Depressed nasal bridge, Malar flattening...	OMIM:154780
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Microcephaly, Feeding difficulties in infan...	ORPHA:500055
Genitopalatocardiac Syndrome	Microcephaly, Micrognathia, Non-midline cleft lip, Hydrocephalus, Wide nasal bridge, Cleft palate...	ORPHA:2075
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Deeply set eye, Normal pressure hydrocephalus, Proptosis, Downslante...	OMIM:620351
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Joint hypermobility, Narrow nasal ridge, Underdeveloped nasal alae, Micrognathia...	OMIM:618343
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Flat occiput, Anteverted nares, Gastroparesis, Wide nasal bridge, Leukoencepha...	OMIM:614052
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Ogden Syndrome	Redundant neck skin, Congenital hip dislocation, Apnea, Maternal diabetes, Micrognathia, Short ne...	OMIM:300855
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral...	ORPHA:2234
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Dentinogenesis imperfecta	OMIM:610968
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Leukoencephalopathy, Feeding difficulties, Respiratory insufficiency, Respirato...	OMIM:605711
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ...	OMIM:619483
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat...	OMIM:620249
Marbach-Rustad Progeroid Syndrome	Proptosis, Shallow orbits	OMIM:619322
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Pancr...	OMIM:602782
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Single...	ORPHA:466950
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep...	OMIM:220110
Chitayat Syndrome	Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, Thick vermilion ...	OMIM:617180
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Rectal prolapse, H...	OMIM:613177
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Pneumothorax,...	OMIM:601776
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural eff...	OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena...	ORPHA:79403
Malaria	Nausea and vomiting, Respiratory distress	ORPHA:673
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Adduc...	OMIM:617022
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Premature loss o...	ORPHA:667
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ...	OMIM:268305
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Depressed nasal bridge, Pyloric stenosis, Pate...	ORPHA:363705
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Abnormality of the hand, Underdeveloped nasal alae, Cryptorchi...	OMIM:192430
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos...	OMIM:600775
Atelis Syndrome 2	Frontal bossing, Micrognathia, Diastema, Microcephaly, Patent ductus arteriosus, Thick lower lip ...	OMIM:620185
Septopreoptic Holoprosencephaly	Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal enc...	ORPHA:280195
Orofaciodigital Syndrome X	Retrognathia, Depressed nasal bridge, Cleft palate	OMIM:165590
Distal Deletion 9P	Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism	ORPHA:1642
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G...	OMIM:616145
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Microcephaly, Abdominal pain, Dyspnea, Cough	ORPHA:86812
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Midface retrusion, Cleft palate, Micrognathia	OMIM:300946
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Low-set ears...	ORPHA:2470
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Wide nose, Cerebral calcification, Microcephaly, Patent ductus arteriosus, ...	OMIM:617303
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Mgat2-Cdg	Respiratory distress, Dental crowding, Gastroparesis, Patent ductus arteriosus, Low hanging colum...	ORPHA:79329
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Short neck, Clinodactyly of the 5th finger, Con...	OMIM:300990
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Frontal bossing, Abnormal pinna morphology, Short stature, Abnormal cortical g...	OMIM:177980
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Plagiocephaly, Microdontia	OMIM:605282
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties, Death in childhood	OMIM:615597
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short...	OMIM:619698
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Prop...	ORPHA:3339
Gapo Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, High, narr...	OMIM:230740
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ...	OMIM:229850
Malignant Peritoneal Mesothelioma	Dyspnea, Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Mend Syndrome	Prominent nasal bridge, Abnormal auditory evoked potentials, Asymmetry of the mouth, Micrognathia...	ORPHA:401973
Distal Duplication 17Q	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Cl...	ORPHA:3379
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg...	ORPHA:742
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the iris, High palat...	OMIM:223370
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Microcephaly, Reye syndrome-like episodes, Diarrhea, Feeding...	ORPHA:927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelopathy, Bradypnea, R...	OMIM:617186
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo...	ORPHA:137935
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Proptosis	OMIM:618346
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ...	OMIM:619124
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Alob...	OMIM:301043
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Hypothyroidism, Simple ear, Joint laxity, Anteverted n...	OMIM:619325
Craniofrontonasal Syndrome	Frontal bossing, Abnormality of the dentition, Cleft upper lip, Bifid nasal tip, Wide nasal bridg...	OMIM:304110
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve...	ORPHA:99646
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic...	ORPHA:70
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck	ORPHA:2578
20Q13.33 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Proptosis, Downsla...	ORPHA:261311
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Shallow orbits	OMIM:617306
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Neonatal respiratory distress, Short lingual frenulum, Depressed nasal bridge, W...	OMIM:619479
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re...	OMIM:276950
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Opitz Gbbb Syndrome	Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Recurren...	ORPHA:2745
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Spinocerebellar Ataxia Type 1	Optic atrophy, Respiratory failure, Dysphagia, Abnormal nerve conduction velocity, Abnormality of...	ORPHA:98755
Craniopharyngioma	Nausea and vomiting, Papilledema, Cerebral calcification, Abnormal nasal bone morphology, Hydroce...	ORPHA:54595
Xylt1-Cdg	Joint dislocation, Joint laxity, Short stature, Accelerated skeletal maturation, Coxa valga, Flar...	ORPHA:370930
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality ...	OMIM:601076
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Feeding difficulties, Dysphagia, Death in childhood, Respiratory ...	OMIM:619847
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Parietal bossing, Agenesis of corpus ca...	OMIM:264090
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
X-Linked Intellectual Disability, Seemanova Type	Cryptorchidism, Retrognathia, Hypogonadism, High palate, Macrotia	ORPHA:85323
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Recurrent up...	ORPHA:583
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, High palate	OMIM:620011
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X...	ORPHA:85443
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Nausea	ORPHA:71211
Kosaki Overgrowth Syndrome	Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:616592
46,Xy Sex Reversal 4	Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Cleft palate, High palate,...	OMIM:154230
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Frontal bossing, Long toe, Depressed nasal bridge, Short stature, Microgna...	OMIM:614527
Opsismodysplasia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Respiratory insufficiency, Protuberant...	OMIM:258480
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia	OMIM:245590
Alg11-Cdg	Gray matter heterotopia, Scoliosis, Long philtrum, Retrognathia, Hearing impairment	ORPHA:280071
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, Pectus excavatum, Hi...	ORPHA:957
Immunodeficiency 54	Short stature, Postnatal growth retardation, Respiratory insufficiency, Adrenocorticotropic hormo...	OMIM:609981
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of...	ORPHA:3265
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Cough, P...	ORPHA:3392
Sepsis In Premature Infants	Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys...	ORPHA:90051
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact...	OMIM:613091
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ...	ORPHA:488642
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Microcephaly, Rectal prolapse, Thick lower li...	OMIM:303600
Riddle Syndrome	Pneumonia, Abdominal pain, Microcephaly, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, Abnorm...	ORPHA:420741
Kagami-Ogata Syndrome	Pursed lips, Frontal bossing, Respiratory failure requiring assisted ventilation, Depressed nasal...	ORPHA:254519
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly, Long philtrum...	ORPHA:50810
Cleft Lip And Alveolus	Lip pit, Abnormal pattern of respiration, Abnormal nasal morphology, Hypodontia, Dysphagia, Abnor...	ORPHA:141291
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Macrocephaly, Hydrocephalus, Protuberant abdomen, Microcephaly	OMIM:613330
Liver Disease, Severe Congenital	Macrocephaly at birth, Chronic gastritis, Depressed nasal bridge, Pneumonia, Narrow nasal ridge, ...	OMIM:619991
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Abnormal perio...	ORPHA:480880
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia	OMIM:620166
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia	ORPHA:2728
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Patent ductus...	OMIM:616894
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Microcephaly, Underdeveloped nasal...	ORPHA:435628
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Narrow chest, Prominent s...	ORPHA:280633
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy...	OMIM:200980
Tyshchenko Syndrome	Proptosis, Ptosis	OMIM:615102
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal thymus morphology, High palate, Lumbar hemivertebrae, Abnormal bone ossifica...	ORPHA:2463
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect	ORPHA:1931
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention, Thin corpus callosum	OMIM:619345
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosi...	ORPHA:457359
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert...	ORPHA:887
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis, Ptosis	ORPHA:1323
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft upper lip, Ca...	OMIM:164200
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Pe...	ORPHA:252164
Pseudo-Torch Syndrome 1	Microretrognathia, Anteverted nares, Cleft lip, Patent ductus arteriosus, High palate, Lissenceph...	OMIM:251290
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm...	ORPHA:95494
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Short stature, Prominent nasal...	ORPHA:1587
Leigh Syndrome	Multiple joint contractures, Sensorineural hearing impairment, Optic atrophy, Abnormal thalamic M...	ORPHA:506
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Respiratory failure, Cerebral atrophy	ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Frontal bossing, Dental crowding, Brachycephaly, Narrow pala...	OMIM:616078
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Narrow mouth, Patent ductus a...	ORPHA:1272
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Polymicrogyria, Microcephaly	OMIM:610678
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Short stature, Limited elbow move...	OMIM:617809
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Abdominal distention, Rectal atresi...	OMIM:617666
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Arthrogryposis, Impaired Intellectual Development, And Seizures	Microretrognathia, Camptodactyly of finger, Hip dislocation, Knee dislocation, Scoliosis, Arthrog...	OMIM:615553
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin...	OMIM:240300
Prolidase Deficiency	Hypertelorism, Proptosis, Ptosis	OMIM:170100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Type II lisse...	OMIM:236670
Graves Disease, Susceptibility To, 1	Proptosis	OMIM:275000
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Optic atrophy, Feeding diffi...	ORPHA:79312
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdomi...	ORPHA:2131
Nephrotic Syndrome, Type 1	Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea...	ORPHA:79404
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Anteverted nar...	OMIM:616503
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Frontal bossing, Microretrognathia, Craniosynostosis, Scaphocephaly, Recur...	ORPHA:397612
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Porencephalic cyst, Cleft palate, Cer...	OMIM:258860
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Wide nasal bridge, Brachycephaly, Fe...	OMIM:616728
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Joint stiffness, Fibrous syngna...	ORPHA:1300
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Poor suck, Nasal congestion, Stridor, Par...	ORPHA:141083
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Pleural effusion	ORPHA:93552
Chromosome 1P36 Deletion Syndrome, Proximal	Frontal bossing, Anteverted nares, Micrognathia, Microcephaly, Cleft lip, Patent ductus arteriosu...	OMIM:619343
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ...	OMIM:193500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Apnea, Micrognathia, Prominent nose, Deep philtrum, Brach...	OMIM:619503
Roberts-Sc Phocomelia Syndrome	Craniosynostosis, Cleft upper lip, Micrognathia, Microcephaly, Patent ductus arteriosus, Underdev...	OMIM:268300
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Peroxisome Biogenesis Disorder 4A (Zellweger)	Feeding difficulties in infancy, Death in infancy, Respiratory failure, Depressed nasal bridge	OMIM:614862
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Succinic Acidemia	Respiratory distress	OMIM:600335
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowth, Macroglossia, W...	OMIM:253220
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increa...	OMIM:166220
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Arachnodactyly, Prominent nasal bridge, Convex nasal ridge, Prominent no...	OMIM:601552
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Thin corpus callosum, Nocturnal hypoventilation	OMIM:620326
Schimke Immunoosseous Dysplasia	Depressed nasal bridge, Dyspnea, Bulbous nose, Wide nasal bridge, Protuberant abdomen, Microdonti...	OMIM:242900
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Abnormal cerebral white matter ...	ORPHA:330021
Stt3B-Cdg	Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties	ORPHA:370924
Joubert Syndrome 1	Central apnea, Optic disc pallor, Anteverted nares, Episodic tachypnea, Protruding tongue, Postax...	OMIM:213300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Respiratory fail...	OMIM:613954
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Micrognathia, Carious teeth, ...	OMIM:150230
Vexas Syndrome	Nasal chondritis, Chondritis of pinna	OMIM:301054
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, High palate, Pulmo...	OMIM:619272
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum	OMIM:302950
Laurence-Moon Syndrome	Brachycephaly	ORPHA:2377
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Abdominal distention, Dysplastic corpus callosum, Secondary microcephaly, Death...	OMIM:619423
Dural Sinus Malformation	Myelopathy, Chemosis, Proptosis, Hydrocephalus	ORPHA:97339
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure o...	OMIM:614008
Short Stature, Brussels Type	Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Ca...	ORPHA:2867
Amyotrophic Lateral Sclerosis	Nausea and vomiting, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory fai...	ORPHA:803
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Anteverted nares, Optic neuropathy, Incre...	OMIM:619727
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Short stature, Patent ductus arteriosus, Thin vermilion border, Hi...	OMIM:619869
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S...	ORPHA:457351
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl...	OMIM:610168
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe...	OMIM:304150
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis	OMIM:274300
Spastic Paraplegia 23, Autosomal Recessive	Scapular winging, Retrognathia, Scoliosis, Micrognathia	OMIM:270750
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v...	OMIM:607330
Ovarian Fibroma	Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain	ORPHA:314473
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Proptosis	ORPHA:352582
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Respiratory failure, Intrauteri...	OMIM:620327
Hermansky-Pudlak Syndrome 10	Apnea, Retrognathia, Low-set ears, Macrotia, Smooth philtrum	OMIM:617050
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In...	ORPHA:79259
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Proptosis, Shallow orbits	OMIM:620029
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Feeding difficult...	ORPHA:570
Renal Hypodysplasia/Aplasia 1	Retrognathia, Talipes equinovarus, Low-set ears	OMIM:191830
Cornelia De Lange Syndrome	Micrognathia, Feeding difficulties in infancy, Brachycephaly, Downturned corners of mouth, Widely...	ORPHA:199
Esophageal Atresia	Respiratory distress, Barrett esophagus, Intestinal malrotation, Choanal atresia, Feeding difficu...	ORPHA:1199
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Short neck, Aplastic clavic...	OMIM:616546
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Bilateral cryptorchidism, Bulbous nose, Macrotia, Hip dislocation, Wide nasal bri...	OMIM:617403
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cleft pala...	ORPHA:2306
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Multiple joint contractures, Short stature, Spinal rigi...	ORPHA:324604
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure	OMIM:615803
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted ear...	OMIM:618779
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Trism...	ORPHA:3206
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Peripartum Cardiomyopathy	Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pu...	ORPHA:563
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Feeding difficulties in infancy, Stridor, Respirator...	ORPHA:444013
Hyperostosis Cranialis Interna	Proptosis	OMIM:144755
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Joint laxity, Short stature, Prominent nose, Bulbous nose, ...	OMIM:606220
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Growth delay, Respira...	ORPHA:3240
Marfan Syndrome	Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion contracture, Increased...	OMIM:154700
Donnai-Barrow Syndrome	Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:222448
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia,...	OMIM:617296
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Thick corpus callosum, Brachy...	OMIM:617798
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate, Micrognathia	OMIM:243440
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici...	ORPHA:79276
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueduc...	OMIM:306955
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent p...	ORPHA:731
Car T Cell Therapy-Associated Cytokine Release Syndrome	Poor appetite, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural effusion, N...	ORPHA:542323
Brain-Lung-Thyroid Syndrome	Respiratory distress, Thyroid dysgenesis, Neonatal respiratory distress, Hypoparathyroidism, Shor...	ORPHA:209905
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Short stature, Micrognathia, Short neck, Cryptorchidism, Pat...	ORPHA:2282
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress, Respiratory fail...	ORPHA:308552
Necrotizing Enterocolitis	Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting	ORPHA:391673
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi...	OMIM:192350
Machado-Joseph Disease	Proptosis, Ptosis	OMIM:109150
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Microcephaly, Feeding difficulties ...	OMIM:252010
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Cinca Syndrome	Proptosis	OMIM:607115
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Optic atrophy, Respiratory distress	ORPHA:289916
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Feeding difficulties	OMIM:616733
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Upslanted palpebral fissure, Umbilical hernia, Proptosis	OMIM:619234
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting	OMIM:237310
Donohue Syndrome	Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth	OMIM:246200
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pulmonary ar...	ORPHA:2414
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St...	ORPHA:142
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Orofaciodigital Syndrome Type 14	Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Microcephaly, Periventricular he...	ORPHA:434179
Idiopathic Neonatal Atrial Flutter	Feeding difficulties in infancy, Tachypnea, Respiratory distress	ORPHA:45452
Hydrolethalus Syndrome 1	Micrognathia, Severe hydrocephalus, Midline defect of the nose, Low-set ears, Broad neck, Median ...	OMIM:236680
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor...	OMIM:208500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum...	OMIM:617088
S-Adenosylhomocysteine Hydrolase Deficiency	Microcephaly, Hypoplasia of the pons, Abnormality of the dentition, Respiratory failure, Cerebell...	ORPHA:88618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Hypopla...	OMIM:616538
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Broad metacarpals, Depressed nasal bridge, Hyperlordosis, Tapered finger, Cleft lip, ...	OMIM:301066
Isolated Atp Synthase Deficiency	Respiratory distress, Optic atrophy, Cerebral cortical atrophy, Microcephaly	ORPHA:254913
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Shallow orbits	OMIM:612394
Menkes Disease	Death in childhood, Brachycephaly, Microcephaly	OMIM:309400
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Shoul...	OMIM:603689
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Sensorineural hearing impairment, Vertigo, Respiratory failure	ORPHA:3226
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni...	ORPHA:1071
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly	ORPHA:2163
Developmental And Epileptic Encephalopathy 80	Upslanted palpebral fissure, Proptosis, Hypertelorism	OMIM:618580
Native American Myopathy	Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Respiratory insuff...	ORPHA:168572
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea	ORPHA:100085
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea, Kyphoscoliosis, Bilateral cryptorchidism, Hip dysplasia, Macrodontia of pe...	ORPHA:466722
Oligomeganephronia	Branchial cyst, Optic disc coloboma, Hearing impairment, Micrognathia	ORPHA:2260
Webb-Dattani Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:615926
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Patent ductus arteriosus, Hydrocephalus, Optic atro...	ORPHA:505248
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Macrocephaly	OMIM:257200
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Facial palsy, Brachycephaly,...	ORPHA:456312
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Intestinal malrotation, Missing ribs, Meningocele, Respiratory insuffici...	ORPHA:1759
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Truncal titubation, Kyphosis, Axonal degeneration, Abnormal sensory nerve conducti...	ORPHA:88628
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal...	OMIM:600383
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull os...	OMIM:602361
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re...	OMIM:620296
C Syndrome	Death in infancy, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, Micrognathia...	ORPHA:1308
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Recurrent upper respiratory tract infections, Titubation	ORPHA:225147
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Patent ductus arteriosus, Cerebral atrophy, Feeding difficulties, Hypopn...	OMIM:617248
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Feeding difficulties, Respirat...	ORPHA:445038
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Intestinal mal...	OMIM:601707
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Choanal atresia, Malar prominence, Cleft upper lip, Micrognathia, Deep ...	OMIM:251260
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodac...	ORPHA:459070
Atelosteogenesis Type I	Telecanthus, Proptosis, Hypertelorism	ORPHA:1190
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ...	ORPHA:1876
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn...	OMIM:609192
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypertelorism, Proptosis, Ptosis	OMIM:613385
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory insufficiency, Feeding difficulties, Respiratory failure, Secondary mi...	OMIM:618329
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Craniosynostosis, Gin...	ORPHA:576
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Anteverted nares, Microcephaly, Oral-pharyngeal dysphagia, Brachycephaly, I...	OMIM:615273
Lissencephaly Due To Tuba1A Mutation	Microretrognathia, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Perisylvian polymicrogy...	ORPHA:171680
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Anteverted nares, Absent septum pellucidum, Proboscis, Microce...	OMIM:619895
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar...	ORPHA:284984
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho...	ORPHA:100050
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Aspartylglucosaminuria	Anteverted nares, Depressed nasal bridge, Microcephaly, Diarrhea, Thick lower lip vermilion, Hypo...	OMIM:208400
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo...	ORPHA:1662
Schisis Association	Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un...	ORPHA:63862
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Bulbous nose, Brachycephaly, Anteriorly placed anus, Widely-spaced maxill...	OMIM:608980
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal...	ORPHA:1389
Boutonneuse Fever	Diarrhea, Nausea, Respiratory failure, Abdominal pain	ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Feeding difficulties in infancy, Dyspnea, Patent ductus arter...	OMIM:610505
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,...	ORPHA:2152
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Coloboma, Long philtrum, Recurr...	OMIM:615877
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal d...	ORPHA:3260
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Increased nuchal translucency, Pie...	OMIM:620183
Thanatophoric Dysplasia Type 1	Hydrocephalus, Proptosis	ORPHA:1860
Myotonic Dystrophy 1	Respiratory distress, Feeding difficulties in infancy, Cerebral atrophy, Facial diplegia, Dysphagia	OMIM:160900
Ovarian Fibrothecoma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:314478
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure, Cerebe...	ORPHA:280210
2Q31.1 Microdeletion Syndrome	Epicanthus, Hypertelorism, Synophrys, Proptosis, Downslanted palpebral fissures, Short palpebral ...	ORPHA:251014
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Thin upper lip vermilion, Feeding difficulties, Vomiting, Gastroesophageal reflux,...	ORPHA:522077
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosi...	OMIM:617011
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Abdominal distention, D...	OMIM:256810
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Pediatric-Onset Graves Disease	Proptosis, Abnormal eyelid morphology	ORPHA:525731
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Proptosis	OMIM:615381
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Telecanthus, Proptosis	OMIM:615789
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Precocious puberty, S...	OMIM:618971
Carnitine Deficiency, Systemic Primary	Respiratory distress, Diarrhea, Vomiting	OMIM:212140
Letterer-Siwe Disease	Stomatitis, Abdominal distention, Dyspnea	OMIM:246400
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Abnormal motor nerve conduction vel...	ORPHA:2912
Cherubism	Lower eyelid retraction, Proptosis	OMIM:118400
Caudal Duplication	Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebr...	ORPHA:1756
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Brachycephaly	OMIM:616083
Aspergillosis	Chronic lung disease, Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obs...	ORPHA:1163
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon...	OMIM:310200
Juvenile Xanthogranuloma	Proptosis, Blepharitis	ORPHA:158000
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, High palate, Short philtrum, Gastroesophageal...	OMIM:618332
Waardenburg Syndrome	Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b...	ORPHA:3440
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,...	ORPHA:261537
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Wide nose, Depressed nasal bridge, Reduced cerebral white matter volume, Microcephaly, Bulbous no...	OMIM:610442
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat...	OMIM:603457
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip	ORPHA:100057
Wyburn-Mason Syndrome	Proptosis	ORPHA:53719
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Brachycephaly	ORPHA:1173
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ...	ORPHA:679
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting	ORPHA:464453
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Short stature, Open bite,...	ORPHA:2907
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa...	ORPHA:168563
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Keppen-Lubinsky Syndrome	Proptosis, Shallow orbits	OMIM:614098
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,...	ORPHA:261552
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Brachycephaly, Umbilical hernia, Short philtr...	OMIM:611962
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353277
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome...	OMIM:278000
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Congenital Myopathy 17	Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:618975
Humeroradial Synostosis	Brachycephaly, Wide nasal bridge	OMIM:236400
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Nausea	ORPHA:36234
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Frontal bossing, Microretrognathia, Curved middle phalanx of the 4th toe, D...	ORPHA:276413
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Cough	ORPHA:160
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Feeding difficul...	OMIM:613845
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Intestinal malrotation, Microcephaly, Cough, Tachypnea, Esophageal varix,...	OMIM:613658
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Hydrocephalus, Optic atrophy, Cerebral at...	ORPHA:79282
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Accelerated skeletal maturation, Posterior helix pit, Hypothyroidism, Prom...	ORPHA:116
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Diarrhea, ...	ORPHA:319213
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction velocity, Optic...	ORPHA:309256
Axenfeld-Rieger Syndrome, Type 3	Proptosis, Hypertelorism	OMIM:602482
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo...	ORPHA:348
Wilson Disease	Acute hepatic failure, Decreased nerve conduction velocity, Abdominal distention, Esophageal vari...	OMIM:277900
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Japanese Encephalitis	Decreased motor nerve conduction velocity, Respiratory distress, Abnormal substantia nigra morpho...	ORPHA:79139
Cinca Syndrome	Proptosis	ORPHA:1451
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Cereb...	OMIM:618426
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Cerebral white matter atrophy, Hypoperistalsis	OMIM:619365
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ...	ORPHA:26793
Generalized Arterial Calcification Of Infancy	Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ...	ORPHA:51608
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Dysphagia, Respiratory ...	OMIM:607625
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Gastrointestinal dysmotility, ...	ORPHA:466943
Diamond-Blackfan Anemia	Depressed nasal bridge, Cleft soft palate, Short stature, Micrognathia, Short neck, Cleft lip, Sh...	ORPHA:124
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ...	OMIM:613795
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, High, narrow palate, Patent ductus arteriosus, Pneumothorax, Abnormal sternum mor...	ORPHA:91387
Rodrigues Blindness	Narrow nasal bridge, Tooth malposition, Nasal flaring	OMIM:268320
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension	OMIM:215600
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Otospondylomegaepiphyseal Dysplasia	Proptosis	ORPHA:1427
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Esophageal varix, Respiratory insufficiency, Decreased liver function, Hepa...	ORPHA:367
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Proptosis	ORPHA:90153
H Syndrome	Abnormal eyebrow morphology, Hydrocephalus, Proptosis, Upper eyelid edema	ORPHA:168569
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Insp...	OMIM:207950
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia	ORPHA:79242
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Optic...	OMIM:612301
Branchiootic Syndrome 3	Branchial cyst, Commissural lip pit, Sensorineural hearing impairment	OMIM:608389
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory...	ORPHA:365
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Respiratory insufficiency, Respiratory failure, Poor suck, Chron...	ORPHA:746
Farber Disease	Respiratory distress, Chronic diarrhea, Recurrent upper respiratory tract infections, Respiratory...	ORPHA:333
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Peripheral axonal neuropathy, Neonatal respiratory distress, Multiple prenatal...	OMIM:616866
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Joint laxity, Hypoventilation, Short stature, Apnea, Breathing dys...	ORPHA:438213
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Ort...	ORPHA:309271
Whipple Disease	Hydrocephalus, Proptosis	ORPHA:3452
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Epistaxis, Pneumonia, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen...	ORPHA:340
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Upper airway obstruction	ORPHA:93352
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Punctate periventricula...	ORPHA:309263
Episodic Ataxia Type 1	Respiratory distress, Nausea	ORPHA:37612
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain	ORPHA:370348
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax	OMIM:617300
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Hypoxemia	ORPHA:2140
Machado-Joseph Disease Type 1	Proptosis	ORPHA:276238
Machado-Joseph Disease Type 2	Proptosis	ORPHA:276241
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck	OMIM:615595
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency, Feeding difficulties	OMIM:609015
Acrocardiofacial Syndrome	Proptosis, Long eyelashes, Hypertelorism	ORPHA:2008
Hennekam-Beemer Syndrome	Upslanted palpebral fissure, Proptosis	ORPHA:2135
Proteasome-Associated Autoinflammatory Syndrome 1	Prominent nose, Basal ganglia calcification, Thick lower lip vermilion, Recurrent upper respirato...	OMIM:256040
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Wide nasal bridge	ORPHA:500
Unilateral Polymicrogyria	Apnea, Epistaxis, Perisylvian polymicrogyria, Infantile sensorineural hearing impairment, Abnorma...	ORPHA:268943
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Brachycephaly, Constipation	OMIM:250250
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea	ORPHA:64739
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni...	OMIM:600145
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Tachypnea, Respiratory insufficiency, Feeding difficulties, Hepatocellular necrosis, Re...	OMIM:618278
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Patent du...	ORPHA:17
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Patent ductus arteriosus, Respiratory insufficiency, Intrauterine gr...	OMIM:619909
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Proptosis, Ptosis	ORPHA:228426
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Thin vermilion border	OMIM:602557
Machado-Joseph Disease Type 3	Proptosis	ORPHA:276244
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, High palate	OMIM:271225
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Hydrocephalus, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fi...	ORPHA:163979
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum...	OMIM:614526
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation, Umbil...	OMIM:218700
Oculopharyngodistal Myopathy 1	Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf...	OMIM:164310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology, Vomiting	OMIM:251000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Proptosis, Hypertelorism	ORPHA:457395
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Abdominal distent...	OMIM:619534
Down Syndrome	Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Brachycephaly, Duodenal steno...	OMIM:190685
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure	ORPHA:2088
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Primary Dystonia, Dyt4 Type	Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia	ORPHA:98805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Patent d...	OMIM:619351
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration, Chorioretinal coloboma	ORPHA:2481
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum, ...	ORPHA:2519
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d...	ORPHA:79078
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Vomiting, Cough, Pleural effusion, Cereb...	ORPHA:1546
Leprechaunism	Wide nose, Microcephaly, Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border	ORPHA:508
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Primary Biliary Cholangitis	Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep...	ORPHA:186
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite, Malabsorption	OMIM:227810
Biotinidase Deficiency	Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation	ORPHA:79241
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	OMIM:608612
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Hydrocephalus, Esophageal varix, Brachycephaly, Fe...	ORPHA:2072
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Aspiratio...	OMIM:618733
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Wide nose, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Craniosyno...	OMIM:201750
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Trichohepatoenteric Syndrome 1	Large placenta, Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:222470
Oculoectodermal Syndrome	Limbal dermoid, Epicanthus, Eyelid coloboma, Proptosis	OMIM:600268
Cocaine Intoxication	Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ...	ORPHA:90068
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Abdominal distention, Hepatic failure, Death in infancy	OMIM:617156
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula	OMIM:119500
Pseudoaminopterin Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Hydrocephalus, Proptosis, Blepharophimosis	ORPHA:221120
Campomelic Dysplasia	Proptosis, Hypertelorism	ORPHA:140
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Localized Scleroderma	Deeply set eye, Proptosis	ORPHA:90289
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Respiratory distress, Multiple joint contractures, Prominent n...	ORPHA:79318
Sting-Associated Vasculopathy, Infantile-Onset	Nasal septum perforation, Tachypnea	OMIM:615934
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Brachycephaly, Secondary microcephaly, Steatorrhea, Midface retrusion, ...	OMIM:616263
Thyroid Ectopia	Macroglossia, Umbilical hernia, Constipation, Abdominal distention	ORPHA:95712
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Meningocele, Optic atro...	ORPHA:991
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Brachycephaly	ORPHA:371428
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, Interstitia...	ORPHA:37042
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis	OMIM:615349
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Thick vermilio...	ORPHA:653
Posterior Urethral Valve	Abnormal nasal morphology, Postnatal growth retardation, Retrognathia	ORPHA:93110
Listeriosis	Back pain, Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Nuchal rigidi...	ORPHA:533
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Anal a...	OMIM:273395
Sotos Syndrome	Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Conductive hearing ...	ORPHA:821
Erdheim-Chester Disease	Xanthelasma, Proptosis, Ptosis	ORPHA:35687
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Short stature, Intestinal malrotation, Cleft soft palate, Optic nerve ...	OMIM:619321
Williams Syndrome	Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Spina bifida occulta, Abnorm...	ORPHA:904
Smith-Mccort Dysplasia 1	Hypoplastic facial bones, Dolichocephaly, Microcephaly	OMIM:607326
Familial Gestational Hyperthyroidism	Proptosis	ORPHA:99819
Fucosidosis	Brachycephaly, Abnormality of the dentition	ORPHA:349
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ab...	ORPHA:537
Ablepharon-Macrostomia Syndrome	Abnormal nasal morphology, Short upper lip, Anteriorly placed anus, Wide mouth, Hypoplasia of the...	OMIM:200110
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Deeply set eye, Proptosis	ORPHA:508533
Warburg-Cinotti Syndrome	Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, ...	OMIM:618175
Noonan Syndrome	Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:648
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Meester-Loeys Syndrome	Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:300989
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Phakomatosis Pigmentokeratotica	Spina bifida, Precocious puberty, Cryptorchidism, Coloboma, Pheochromocytoma, Scoliosis, Hemiatro...	ORPHA:2874
Hyperthyroidism, Nonautoimmune	Proptosis	OMIM:609152
Common Variable Immunodeficiency	Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Brachycephaly, Restrictive ventilatory ...	ORPHA:1572
Knobloch Syndrome 1	Occipital encephalocele, Optic disc pallor, Depressed nasal bridge, Pyloric stenosis, Bulbous nos...	OMIM:267750
Townes-Brocks Syndrome	Anteriorly placed anus, Chorioretinal coloboma, Triphalangeal thumb, Clinodactyly of the 5th fing...	ORPHA:857
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Proptosis	ORPHA:424
Spondylodysplastic Ehlers-Danlos Syndrome	Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:536471
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain	ORPHA:2330
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Inhalational Anthrax	Respiratory distress, Dyspnea, Vomiting	ORPHA:247257
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Tr...	ORPHA:210122
Ethylene Glycol Poisoning	Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distres...	ORPHA:31826
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion, Hepatic failure	ORPHA:292
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis	ORPHA:90154
Mitochondrial Complex I Deficiency, Nuclear Type 32	Cerebral atrophy, Respiratory failure, Vomiting, Patent urachus, Death in childhood	OMIM:618252
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Abetalipoproteinemia	Chronic diarrhea, Respiratory failure, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:14
Waldenström Macroglobulinemia	Proptosis	ORPHA:33226
Arima Syndrome	Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic atrophy, Esophageal varix, Wide mouth, Grow...	OMIM:243910
X-Linked Acrogigantism	Diastema, Abdominal distention	ORPHA:300373
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Cerebrotendinous Xanthomatosis	Myelopathy, Proptosis, Abnormal eyelid morphology	ORPHA:909
Non-Acquired Panhypopituitarism	Osteopenia, Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to...	ORPHA:90695
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea	ORPHA:309031
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Non...	ORPHA:805
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syn...	ORPHA:69085
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Hydrocephalus, Feeding difficulties, Macroglossia, Pleural effusion	OMIM:261740
Currarino Syndrome	Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons...	OMIM:176450
Meier-Gorlin Syndrome 7	Proptosis, Thin eyebrow	OMIM:617063
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Neonatal respiratory distress, Respiratory distress, Steatorrhea	OMIM:260400
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Neurofibroma, ...	OMIM:162200
Birk-Barel Syndrome	Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi...	OMIM:612292
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs...	ORPHA:436252
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Methylmalonic Aciduria, Cblb Type	Feeding difficulties in infancy, Vomiting, Respiratory distress	OMIM:251110
Coccidioidomycosis	Respiratory distress, Pneumonia, Broad skull, Hydrocephalus, Pleural empyema, Cough, Exudative pl...	ORPHA:228123
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Cerebral atrophy	OMIM:620306
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Patent ductu...	ORPHA:97214
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Cleft soft...	OMIM:614557
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Depressed nasal bridge, Wide nasal bridge, Growth delay, High palate, Bilatera...	OMIM:619418
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Webbe...	ORPHA:1666
Methylmalonic Aciduria, Cbla Type	Feeding difficulties in infancy, Vomiting, Respiratory distress	OMIM:251100
Colchicine Poisoning	Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea	ORPHA:31824
Niemann-Pick Disease Type C	Cerebral atrophy, Feeding difficulties, Respiratory insufficiency, Respiratory failure, Hypoplasi...	ORPHA:646
Mandibuloacral Dysplasia With Type A Lipodystrophy	Proptosis	OMIM:248370
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Dysphagia, Focal T2 hyperintense ba...	ORPHA:255210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Prominent nose, Respiratory ac...	OMIM:614748
Congenital Tracheal Stenosis	Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Patent ductus arteriosus, D...	ORPHA:141127
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv...	ORPHA:573278
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties...	ORPHA:1329
Zygomycosis	Chemosis, Proptosis, Ptosis	ORPHA:73263
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Q Fever	Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion	ORPHA:781
Yunis-Varon Syndrome	Sparse eyelashes, Hypertelorism, Sparse eyebrow, Hydrocephalus, Upslanted palpebral fissure, Prop...	ORPHA:3472
Neurofibromatosis Type 1	Lisch nodules, Hydrocephalus, Proptosis, Abnormal eyelid morphology	ORPHA:636
Cloacal Exstrophy	Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemivertebrae,...	ORPHA:93929
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Alagille Syndrome 1	Frontal bossing, Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnorma...	OMIM:118450
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Premature loss of primary tee...	ORPHA:2908
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Proptosis, Hypertelorism	OMIM:130070
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Short stature, Cleft soft palate, Intestinal malrot...	OMIM:301068
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Camurati-Engelmann Disease	Proptosis	OMIM:131300
Glycogen Storage Disease Ib	Inflammation of the large intestine, Oral ulcer, Protuberant abdomen	OMIM:232220
Melnick-Needles Syndrome	Proptosis, Hypertelorism	OMIM:309350
Otosclerosis 10	Otosclerosis	OMIM:615589
Okamoto Syndrome	Long palpebral fissure, Hypertelorism, Proptosis, Ptosis	ORPHA:2729
Meningioma	Hydrocephalus, Proptosis	ORPHA:2495
Sirenomelia	Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o...	ORPHA:3169
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Mild microcephaly, Feedin...	ORPHA:2255
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Proptosis	OMIM:210730
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck moti...	ORPHA:268810
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Hydrocephalus, Proptosis, Sparse eyelashes	OMIM:210710
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Bifid uvula	OMIM:601374
Plague	Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis...	ORPHA:707
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen	OMIM:232200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Flexion contracture of finger, Meningocele, Palmoplantar keratoderma	ORPHA:1010
Proteus Syndrome	Hypertelorism, Retinal hamartoma, Sirenomelia, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:744
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension	ORPHA:185
Gitelman Syndrome	Nausea and vomiting, Respiratory distress, Cerebral calcification, Abdominal pain, Diarrhea, Cons...	ORPHA:358
Granulomatosis With Polyangiitis	Proptosis	ORPHA:900
Atresia Of Urethra	Abdominal distention, Patent urachus	ORPHA:105
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
17Q11 Microdeletion Syndrome	Hypertelorism, Deeply set eye, Proptosis, Lisch nodules, Downslanted palpebral fissures	ORPHA:97685
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypertelorism, Abnormal eyelash morphology, D...	ORPHA:286
Alström Syndrome	Respiratory distress, Optic disc pallor, Abnormality of dental color, Recurrent upper respiratory...	ORPHA:64
Camurati-Engelmann Disease	Proptosis	ORPHA:1328
Aortic Arch Interruption	Respiratory distress, Feeding difficulties in infancy, Patent ductus arteriosus, Tachypnea, Exert...	ORPHA:2299
Leptospirosis	Nausea and vomiting, Papilledema, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough...	ORPHA:509
Lumbar Syndrome	Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Anal atresia	ORPHA:83628
Retinoblastoma	Proptosis	ORPHA:790
Beckwith-Wiedemann Syndrome	Proptosis	OMIM:130650
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Upslanted palpebral fis...	OMIM:601803
Tropical Endomyocardial Fibrosis	Proptosis	ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Patent ductus arteriosu...	ORPHA:99125
Exstrophy-Epispadias Complex	Anal stenosis, Spina bifida, Cryptorchidism, Hydrocephalus, Abnormal joint morphology, Anal atresia	ORPHA:322

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tcof1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tcof1.

No publications found that use IMPC mice or data for Tcof1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tcof1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tcof1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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