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Gene: Satb2 MGI:2679336

Gene Summary

Name:

special AT-rich sequence binding protein 2

Synonyms:

BAP002

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Satb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased mean corpuscular volume	Satb2^em3(IMPC)Tcp	HET	Early adult	2.23×10^-05
abnormal uterus morphology	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Satb2^em3(IMPC)Tcp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Satb2^em3(IMPC)Tcp	HET	Early adult	1.02×10^-09
abnormal retina morphology	Satb2^em3(IMPC)Tcp	HET	Early adult	2.26×10^-08
enlarged lymph nodes	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
abnormal craniofacial morphology	Satb2^em3(IMPC)Tcp	HOM	E15.5	0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	100% (1 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

26 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

18 Images

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X-ray

XRay Images Skull Lateral Orientation

26 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

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Eye Morphology

Images Slit Lamp

6 Images

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Histopathology

Images

3 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Human diseases caused by Satb2 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 Satb2 (4 diseases)
Human diseases predicted to be associated with Satb2 (2422 diseases)

The table below shows human diseases associated to Satb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
2Q32Q33 Microdeletion Syndrome	Anteverted nares, Prominent nasal bridge, Dental crowding, Microcephaly, Micrognathia, Cleft pala...	ORPHA:251019
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Micrognathia, Celiac disease, Abnormal...	ORPHA:576283
Glass Syndrome	Smooth philtrum, Anteverted nares, Prominent nasal bridge, Dental crowding, Broad nasal tip, Long...	OMIM:612313
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Relative macrocephaly, Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent...	ORPHA:251028

The table below shows human diseases predicted to be associated to Satb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Anonychia-Microcephaly Syndrome	Carious teeth, Microcephaly, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin...	ORPHA:3352
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Arthrogryposis, Distal, Type 2E	Microcephaly, Micrognathia, Trismus, Mild microcephaly, Narrow mouth	OMIM:121070
17Q21.31 Microduplication Syndrome	Anteverted nares, Abnormality of the dentition, Microcephaly, Micrognathia, High palate, Short ph...	ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnormal palate morphology, Brachyda...	ORPHA:1277
Peroxisome Biogenesis Disorder 10A (Zellweger)	Death in infancy, Prominent nose, Micrognathia, Epiphyseal stippling, High palate	OMIM:614882
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Bowen-Conradi Syndrome	Death in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nose, Cryp...	ORPHA:1270
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Bowen-Conradi Syndrome	Rocker bottom foot, Microcephaly, Micrognathia, Prominent nose, Clinodactyly of the 5th finger	OMIM:211180
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Periodontal Ehlers-Danlos Syndrome	Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ...	ORPHA:75392
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hamel Cerebro-Palato-Cardiac Syndrome	Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Malar fl...	ORPHA:93946
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine...	ORPHA:364577
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Microcephaly 4, Primary, Autosomal Recessive	Primary microcephaly, Cerebellar vermis hypoplasia, Micrognathia, Low hanging columella	OMIM:604321
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Bul...	ORPHA:3080
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Alazami-Yuan Syndrome	Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Underdeveloped nasal alae, Pro...	OMIM:617126
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte...	ORPHA:261120
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Microcephaly, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingi...	ORPHA:1832
Distal Deletion 1Q	Depressed nasal bridge, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Th...	ORPHA:36367
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Depressed nasal bridge, Microcephaly, Micrognathia, Bulbous nose, Thin vermilion border, Narrow m...	OMIM:618766
Holoprosencephaly 7	Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Hypoplasia of the brainstem, A...	OMIM:610828
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Rhizomelia...	ORPHA:1515
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Abno...	ORPHA:2975
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metatarsus adduct...	ORPHA:2804
Taurodontism	Taurodontia	OMIM:272700
Sonoda Syndrome	Depressed nasal bridge, Narrow mouth	OMIM:270460
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous...	OMIM:616788
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microc...	ORPHA:46
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Broad nasal tip, Microcephaly, Thick lower lip vermilion, Wide nasal bridge, Short philtrum, Thic...	OMIM:600093
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Thin upper lip vermilion, Broad nasal tip, Prominent nose, Microcephaly, Micrognathia, Abnormal c...	OMIM:617755
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ...	ORPHA:1193
Weaver-Williams Syndrome	Microcephaly, Cleft palate, Narrow mouth	ORPHA:3448
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Micrognathia, Hypoplasia of the corpus callosum, Narrow mouth, Short nose, Abnormal...	ORPHA:1495
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Mi...	OMIM:613684
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Metatarsus valgus, Joint stiffness, Radial deviation of th...	ORPHA:1388
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic...	ORPHA:141152
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Oculoauriculofrontonasal Syndrome	Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Microcepha...	ORPHA:398156
Autosomal Recessive Distal Osteolysis Syndrome	Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short dista...	ORPHA:2776
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Dental malocclusion	OMIM:155050
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Filippi Syndrome	Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Serrated incisors, Thin vermilion bor...	OMIM:272440
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, High palate, Retrognathia, Narrow mouth	ORPHA:2528
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Cerebral atrophy, Dow...	OMIM:618729
Autism, Susceptibility To, X-Linked 6	Narrow mouth, Short philtrum, Underdeveloped nasal alae	OMIM:300872
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Craniosynostosis, Cleft upper ...	OMIM:265050
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh...	ORPHA:1406
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cryptorchidism,...	ORPHA:2166
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Clinodactyly of ...	OMIM:619110
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Tapered finger...	OMIM:300602
Multiple Epiphyseal Dysplasia, Lowry Type	Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip, Delayed epiphyseal o...	ORPHA:166016
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Non-Distal Duplication 10Q	Depressed nasal bridge, Microcephaly, Micrognathia, High palate, Everted lower lip vermilion, Sho...	ORPHA:1695
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Micrognathia, Broad nasa...	ORPHA:166108
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Congenital Myopathy 16	Prominent nasolabial fold, Micrognathia, High palate, Narrow mouth	OMIM:618524
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Micrognathia, Wide nasal bridge, Aplasia/Hypo...	ORPHA:3207
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb	ORPHA:3434
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Short neck, Trismus, Whistling appearance, ...	OMIM:277720
Chromosome 22Q11.2 Duplication Syndrome	Microcephaly, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, High palate	OMIM:608363
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Spastic Paraplegia 70, Autosomal Recessive	Micrognathia, Achilles tendon contracture, Ankle clonus, High palate, Scoliosis	OMIM:620323
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom...	ORPHA:3145
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Abnormal oral mucosa ...	ORPHA:2673
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly...	ORPHA:915
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Talipes equinovarus, Cerebellar hyp...	OMIM:616570
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Increas...	ORPHA:77300
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Narrow mouth,...	ORPHA:261295
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Microcephaly, High palate, Long philtrum, Short nose	ORPHA:2598
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Microcephaly, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, ...	OMIM:619356
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Cutaneous syndactyly of toes, Hammerto...	OMIM:158300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel mor...	ORPHA:1077
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Toe syndactyly, Depressed nasal brid...	OMIM:241800
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, High...	OMIM:618393
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Short neck, Joint stiffness, Non-midline cleft lip, Bone c...	ORPHA:1752
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
17P13.3 Microduplication Syndrome	Wide nose, High palate, Hypoplasia of the corpus callosum, Narrow mouth, Short nose	ORPHA:217385
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Microcephaly, Wide mouth, Delayed eruption of permanen...	OMIM:618506
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Abnormality of the nose, Micrognathia, Whistling appearance, Pierre-Robin sequence, Downturned co...	ORPHA:1150
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Distal Deletion 10P	Micrognathia, Short neck, Joint stiffness, Non-midline cleft lip, Abnormality of the elbow, Wide ...	ORPHA:1580
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Depressed nasal bridge, Micr...	OMIM:108721
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Anteverted nares, Micrognathia, 2-3 toe syndactyly, Short 5th finger, C...	OMIM:618608
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral ...	ORPHA:1919
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Joint laxity, Anteverted nares, Short...	OMIM:615583
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Underdevelop...	OMIM:190351
Lowry-Maclean Syndrome	Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Microcephaly	OMIM:600252
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Intellectual Developmental Disorder, Autosomal Dominant 26	Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Deep philtrum, Wide nasal b...	OMIM:615834
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate, Leukoencephalopa...	ORPHA:457365
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia	OMIM:300577
Alazami Syndrome	Wide nose, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Wide mouth, Widely spaced tee...	OMIM:615071
Peho-Like Syndrome	Retrognathia, Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Short n...	OMIM:617507
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La...	OMIM:256050
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Micrognathia, Perisylvian polymicro...	OMIM:600118
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla	OMIM:613671
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
2Q32Q33 Microdeletion Syndrome	Anteverted nares, Prominent nasal bridge, Dental crowding, Microcephaly, Micrognathia, Cleft pala...	ORPHA:251019
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Progressive microcephaly, Long philtrum, Short ...	ORPHA:438178
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an...	OMIM:614886
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Treacher Collins Syndrome 4	Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening	OMIM:618939
Monosomy 5P	Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Wide nasal bri...	ORPHA:281
Acromegaloid Facial Appearance Syndrome	Micrognathia, Tapered finger, Bulbous nose, Deep philtrum, Large hands, Thick vermilion border, T...	OMIM:102150
Nemaline Myopathy 9	Micrognathia, Cleft palate, High palate, Scoliosis, Arthrogryposis multiplex congenita	OMIM:615731
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Crypt...	ORPHA:85279
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un...	OMIM:608572
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia	ORPHA:2668
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi...	OMIM:617926
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,...	OMIM:166300
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, L...	ORPHA:90653
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Macrocephaly, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Thin vermilion border...	ORPHA:2631
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Intellectual Developmental Disorder, Autosomal Dominant 21	Microcephaly, Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr...	OMIM:617752
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re...	OMIM:146300
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b...	ORPHA:2025
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Coxa valga, Hypoplasia of the maxilla, Wide anteri...	OMIM:620099
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Wide nose, Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Clinodactyly of the...	ORPHA:3074
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ...	OMIM:312150
Aase-Smith Syndrome	Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov...	ORPHA:916
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Postaxial polydactyly, Hypoplasia of the maxill...	OMIM:619142
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Bardet-Biedl Syndrome 7	Malar flattening, Depressed nasal bridge, Narrow mouth	OMIM:615984
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow...	ORPHA:2662
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Cli...	ORPHA:1452
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Mac...	OMIM:157980
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, ...	OMIM:618737
Ck Syndrome	Dental crowding, Prominent nasal bridge, Micrognathia, Hyperlordosis, Kyphosis, Retrognathia, Hig...	OMIM:300831
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Orofacial cleft, Low posterior hairl...	ORPHA:85287
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Microcephaly, Micrognathia, Depressed nasal ridge, Thin vermilion border, Narrow mouth	ORPHA:1046
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnorma...	ORPHA:3098
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,...	ORPHA:2409
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer...	ORPHA:1794
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof...	OMIM:616331
Tetrasomy 18P	Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Micrognathia, Microcephaly,...	ORPHA:1387
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ...	OMIM:617616
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac...	ORPHA:313892
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Supernumerary nipple, Cleft upper lip, Conical tooth, Carious...	OMIM:129400
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ...	OMIM:300676
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Rocker bottom foot, Micrognathia, Cerebral atrophy, Hypoplasia of the brainstem...	OMIM:618266
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Megalencephaly, Abnormal nasal morphology, Narrow mouth, Macrocephaly, Po...	ORPHA:83473
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Broad nasal tip, Microcephaly, Micrognathia, Cleft palate, Bifid nose, Narrow mouth	OMIM:239800
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Bulbous no...	ORPHA:1787
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Microcephaly, Primary microcep...	OMIM:613544
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, De...	OMIM:618622
Genitopalatocardiac Syndrome	Cleft upper lip, Cleft palate, Micrognathia	OMIM:231060
Seckel Syndrome 2	Micrognathia, Prominent nose, Microcephaly, Clinodactyly of the 5th finger, Cerebellar hypoplasia...	OMIM:606744
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase...	OMIM:618761
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia	OMIM:619981
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T...	OMIM:249620
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose	ORPHA:2835
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Micrognathia, Prominent nose, High palate, Broad thumb, Clinodactyly, ...	OMIM:620194
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Microcephaly, Adducted thumb, Hydrocele testis, Notched primary central incisor, Macrocephaly, Br...	OMIM:620062
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi...	OMIM:619719
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Orofaciodigital Syndrome Iii	Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol...	OMIM:258850
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,...	OMIM:141400
Meier-Gorlin Syndrome 8	Micrognathia, Thick vermilion border, Narrow mouth	OMIM:617564
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela...	ORPHA:819
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Wide nasal b...	OMIM:614078
Schilbach-Rott Syndrome	Prominent nose, Long nose, Microcephaly, Micrognathia, Submucous cleft hard palate, Narrow mouth,...	OMIM:164220
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle...	OMIM:619736
Acromicric Dysplasia	Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum	ORPHA:969
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Bonnemann-Meinecke-Reich Syndrome	Microcephaly, Cerebral calcification, Decreased response to growth hormone stimulation test, Micr...	ORPHA:1261
Microphthalmia, Syndromic 12	Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft p...	OMIM:615524
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Short foot, High palate...	OMIM:248910
Seckel Syndrome 5	11 pairs of ribs, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Abnormal cortic...	OMIM:613823
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi...	ORPHA:166272
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Micrognathia, Celiac disease, Abnormal...	ORPHA:576283
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of...	ORPHA:1110
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
Ventriculomegaly And Arthrogryposis	Micrognathia, Cerebellar hypoplasia, Talipes equinovarus, Hand clenching, Agenesis of corpus call...	OMIM:619501
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth...	OMIM:601216
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Microphthalmia With Limb Anomalies	Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Chromosome 4Q21 Deletion Syndrome	Narrow mouth, Downturned corners of mouth, Short philtrum, Long philtrum, Cerebral hypoplasia	OMIM:613509
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Distal Monosomy 7Q36	Micrognathia, Short neck, Non-midline cleft lip, Bulbous nose, Symphalangism affecting the phalan...	ORPHA:1636
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Thin vermilion border, Narrow mouth	ORPHA:2370
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Microcephaly, Diastema, Bulbous nose, Wide mouth, Hypoplasia of the corpus callosum, Global brain...	OMIM:618470
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Short neck, Calcaneovalgus defo...	OMIM:615065
Trisomy 18P	Underdeveloped nasal alae, Microcephaly, High, narrow palate, Pyloric stenosis, Micrognathia, Wid...	ORPHA:1715
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide mouth, Wide nose, Microcephaly	OMIM:113477
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Prominent nasal bridge, Prominent nose, Carious teeth, Abnormality of the dentition, Radioulnar s...	ORPHA:3270
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Microcephaly, Anal atresia, Narrow mouth	ORPHA:3469
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b...	ORPHA:163649
Microcephaly 16, Primary, Autosomal Recessive	Micrognathia, Cryptorchidism, Simplified gyral pattern, Primary microcephaly, Open mouth, Agenesi...	OMIM:616681
Tonne-Kalscheuer Syndrome	Prominent nasal bridge, Prominent nose, Microcephaly, Micrognathia, Velopharyngeal insufficiency,...	OMIM:300978
Oculodentodigital Dysplasia	Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ...	OMIM:164200
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Wide nasal bridge, Macrocephaly, W...	OMIM:619595
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Macrocephaly, E...	OMIM:618205
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os...	ORPHA:99742
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Prominent nasal bridge, Unilateral polymicrogyria, Microcephaly, Abnormal hand mo...	ORPHA:319171
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Macrocephaly, Micrognathia	OMIM:611913
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Diamond-Blackfan Anemia 6	Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re...	OMIM:612561
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contracture, Decreased...	OMIM:616897
Lambotte Syndrome	Retrognathia, Microcephaly, Convex nasal ridge, Narrow mouth	OMIM:245552
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a...	OMIM:619941
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bridge, Kypho...	OMIM:215100
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow mouth, Partial agenesis of the corpus callosum, Wide nasal bridge, Narrow pa...	OMIM:620250
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition	OMIM:183400
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A...	ORPHA:1027
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat...	OMIM:164745
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Prominent nose, Kyp...	OMIM:300280
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Hypophosphatasia	Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormality of the dentition	ORPHA:436
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Clinodactyly, Sho...	OMIM:305400
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Neuralgic Amyotrophy	Cleft palate, Narrow mouth	ORPHA:2901
Zimmermann-Laband Syndrome	Hallux valgus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose, Gingival f...	ORPHA:3473
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
9q subtelomeric deletion syndrome	Short nose, Microcephaly, Anteverted nares, Protruding tongue	DECIPHER:52
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Hypoplasia of the ...	ORPHA:1540
Acromicric Dysplasia	Anteverted nares, Bulbous nose, Thick lower lip vermilion, Deep philtrum, Narrow mouth, Long phil...	OMIM:102370
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Long nose, High, narrow palate, Wide nasal bridge, Depressed nasal tip...	OMIM:182150
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of the capital femoral...	ORPHA:502
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Abnormality of the wrist, Abnormal thumb morphology, ...	ORPHA:2511
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly	ORPHA:294975
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Micrognathia,...	OMIM:216550
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Microcephaly, Open bite, Abnorma...	ORPHA:1327
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ...	OMIM:609166
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Macroc...	ORPHA:2563
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Microcephaly, Cleft palate, Shor...	OMIM:181180
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, M...	ORPHA:2107
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, High palate, N...	OMIM:601680
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum	ORPHA:1389
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord...	ORPHA:1895
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, H...	OMIM:618388
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Progressive microcephaly, Narrow mouth	OMIM:620007
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Relative macrocephaly, Anteverted nares, Tapered finger, Long fingers, Den...	OMIM:618292
Oculoskeletodental Syndrome	Hypercalcemia, Abnormality of the dentition, Oligodontia, Hypocalcemia, Microdontia, Enamel hypop...	ORPHA:557003
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario...	OMIM:617102
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe...	ORPHA:2849
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary inc...	ORPHA:397973
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t...	ORPHA:627
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Lo...	ORPHA:939
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp...	OMIM:277150
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Prominent nose, Microcephaly, High, narrow palate, Cleft pala...	ORPHA:3242
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Autism Spectrum Disorder Due To Auts2 Deficiency	Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Short philtrum, Narrow mouth, Pr...	ORPHA:352490
Brachycephaly, Trichomegaly, And Developmental Delay	Depressed nasal bridge, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick low...	OMIM:617412
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Joint stiffness, Non-midline cleft lip,...	ORPHA:1915
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polyda...	OMIM:614815
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, High palate, Secondary mic...	OMIM:615042
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae...	ORPHA:438216
Triploidy	Finger syndactyly, Intestinal malrotation, Micrognathia, Short neck, Non-midline cleft lip, Menin...	ORPHA:3376
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Cog7-Cdg	Micrognathia, Narrow mouth, Subcortical cerebral atrophy, Primary microcephaly, Retrognathia, Pro...	ORPHA:79333
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Al-Raqad Syndrome	Thin upper lip vermilion, Short nose, Microcephaly, Narrow mouth	OMIM:616459
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Su...	OMIM:222765
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar...	ORPHA:2780
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow...	OMIM:604841
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Dec...	ORPHA:93324
Periventricular Nodular Heterotopia 7	Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Cortical dysplasia, Pierre-Ro...	OMIM:617201
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Short 3rd metacarpal, Limb undergrowth, Shor...	OMIM:118651
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Abnormal den...	ORPHA:96264
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ...	ORPHA:77258
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Cleft soft palate, Sandal gap, Micrognathia, Abnormality of the dentition, Antevert...	OMIM:618529
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Microcephaly, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Short d...	ORPHA:2013
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Dis...	OMIM:608154
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Miller-Dieker Syndrome	Anteverted nares, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the corpus callosum...	ORPHA:531
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Wide nasal bridge, Downturned corners of ...	OMIM:618067
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Thickened nuchal skin fold, Cleft palate, Micrognathia	ORPHA:1779
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal brid...	OMIM:616977
Cranioectodermal Dysplasia 4	Anteverted nares, Thin vermilion border, Cutaneous finger syndactyly, Taurodontia, Broad phalanx ...	OMIM:614378
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Micrognathia, Microcephaly, Hand clenching, Downturned corners of mouth, Lissen...	OMIM:616342
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Dental crowding, Ankle flexion contracture, Micrognathia, Flexion contracture, E...	OMIM:617468
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Finger syndactyly, Branchial cyst, Dental crowdi...	ORPHA:435938
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Periventricular leukomalacia, Wide nasal bridge, Microcephaly	OMIM:618302
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Thin upper lip vermilion, Prominent nose, Oligodontia, Hypodontia, Narrow mouth, Microdontia, Lon...	OMIM:618092
Glass Syndrome	Smooth philtrum, Anteverted nares, Prominent nasal bridge, Dental crowding, Broad nasal tip, Long...	OMIM:612313
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Macroorchidis...	ORPHA:139474
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Ca...	OMIM:277440
Crisponi Syndrome	Wide nose, Anteverted nares, Micrognathia, Narrow mouth, High palate, Long philtrum	ORPHA:1545
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Cleft palate, Malar flattening, Spina bifida occulta, Abn...	OMIM:268850
Oculodentodigital Dysplasia	Mandibular prognathia, Cerebral calcification, Micrognathia, Clinodactyly of the 5th finger, Apla...	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Broad nasal tip, Microcephaly, Cleft lip, Cleft palate, Large hands	OMIM:300263
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Short neck, Kyphosis, High palate, Talipes equinovarus, Scolios...	OMIM:611890
Achondrogenesis	Thickened nuchal skin fold, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micro...	ORPHA:932
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Microcephaly, Micrognathia, Wide mouth, Short nose, Smoot...	OMIM:615419
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Reduced cerebral white matter volume, Microcephaly, Wide nasal bridge, Downturned corners of mout...	OMIM:617333
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas...	OMIM:619841
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Clinodactyly, Pierre-Robin sequence, Bu...	OMIM:613604
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Potocki-Shaffer Syndrome	Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Depressed nasal...	ORPHA:52022
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Carious teeth, Open bite, Kyphosis, Congenital pyloric atresia, Reduced bone minera...	ORPHA:2617
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Underdeveloped nasal alae, Long nose, Micrognathia, H...	OMIM:257850
Cofs Syndrome	Death in infancy, Cerebral calcification, Camptodactyly of finger, Micrognathia, Abnormal nasal m...	ORPHA:1466
Xq28 (MECP2) duplication	Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Narrow mouth, Malar flat...	DECIPHER:45
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of car...	OMIM:215045
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Mosaic Trisomy 14	Anteverted nares, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Wide mou...	ORPHA:1703
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ...	OMIM:231070
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, De...	OMIM:619720
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial syno...	OMIM:251230
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Short neck, Underdeveloped nasal...	OMIM:616549
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Cutaneous syndactyly of toes, Cutaneo...	OMIM:225060
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Underdevelo...	OMIM:618825
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste...	OMIM:619718
Lessel-Kubisch Syndrome	Narrow nasal bridge, Narrow mouth	OMIM:618681
Microcephaly-Albinism-Digital Anomalies Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Short distal phalanx of fin...	ORPHA:2513
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Microcephaly, Cryptorch...	OMIM:180870
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric stenosis, Cleft palate...	ORPHA:96184
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Microcephaly	OMIM:615328
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Microcephaly, Thick vermilion border, Long philtrum	ORPHA:833
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Developmental And Epileptic Encephalopathy 70	Microcephaly, Cerebral cortical atrophy, Narrow mouth	OMIM:618298
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Microcephaly, Thin vermilion border, Hypoplasia of ...	ORPHA:1920
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b...	OMIM:615716
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Cerebellofaciodental Syndrome	Tapered finger, Hypoplasia of the pons, Cryptorchidism, Microcephaly, Dental malocclusion, Shorte...	OMIM:616202
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth	OMIM:300143
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Microcephaly, Micrognathia, Primary microc...	ORPHA:391408
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Micrognathia, Knee flexion contracture, Hypophosphate...	OMIM:156400
48,Xxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Coxa valga, ...	ORPHA:96263
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Gingival fibromatosis, Osteolysis	ORPHA:2591
Non-Distal Duplication 13Q	Abnormality of the dentition, Microcephaly, Micrognathia, Thin vermilion border, High palate, Eve...	ORPHA:1702
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi...	ORPHA:2863
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Tibial bowing, Glossoptosis, Abnormal ...	ORPHA:1427
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Underdeveloped nasal alae, Long nose, High, narrow palate, Micro...	ORPHA:1968
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Narrow mouth	OMIM:601379
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l...	ORPHA:50
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Cleft palate, Micrognathia	OMIM:601076
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Craniosynostosis, Micrognathia, Short neck, Underdeveloped nasal alae, Wide nasal bridge, Short p...	ORPHA:1516
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Conv...	ORPHA:207
Lambert Syndrome	Wide mouth, Malar flattening, Branchial anomaly	ORPHA:1296
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Mandibular prognathia	OMIM:309545
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of the corpus callosum, Long philtr...	OMIM:618577
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Myopathy, Centronuclear, 5	Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula	OMIM:615959
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Short tibia, Unicoronal synostosis, Micro...	OMIM:616300
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Depressed nasal bridge, Micrognathia	ORPHA:1918
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Recombinant 8 Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Cleft upper lip, Micrognathia,...	ORPHA:96167
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener...	ORPHA:53
Hernández-Aguirre Negrete Syndrome	Wide mouth, Bulbous nose, Deep philtrum	ORPHA:2139
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Webbed neck, C...	OMIM:244600
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Microcephaly, Micrognathia, Complete duplication o...	OMIM:268250
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teet...	ORPHA:1786
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, ...	OMIM:202650
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Slender nose, Thin upper lip vermilion, Dental crowding, Thick corpus call...	ORPHA:397695
Isotretinoin Syndrome	Depressed nasal bridge, Biparietal narrowing, Cleft palate, Micrognathia	ORPHA:2305
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Micrognathia, Branchial anomaly, High palate, Hypoplasia of the zygomatic...	ORPHA:1131
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Crisponi/Cold-Induced Sweating Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, Trismus, High p...	OMIM:272430
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Microcephaly, Micrognathia, Prominent nose	ORPHA:929
Trigonocephaly 1	Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum	OMIM:190440
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal zygomatic...	ORPHA:249
Bamforth-Lazarus Syndrome	Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Oral Submucous Fibrosis	Trismus, Abnormal oral cavity morphology, Cheilitis, Narrow mouth	ORPHA:357154
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Duplication of phalanx o...	OMIM:243310
Freeman-Sheldon Syndrome	Abnormality of the dentition, Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge...	ORPHA:2053
Osteoglosphonic Dysplasia	Rhizomelia, Anteverted nares, Craniosynostosis, Micrognathia, Choanal atresia, Abnormal form of t...	ORPHA:2645
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hypoplasia of the pons, Microceph...	ORPHA:444072
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G...	ORPHA:2189
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening	OMIM:184840
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft...	ORPHA:2117
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Scoliosis, Prominent nasal bridge, Cleft palate	ORPHA:85273
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Su...	OMIM:264700
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Dec...	ORPHA:2097
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Macrocephaly, Short foot, Talipes equinovarus, Long p...	ORPHA:93298
Pierpont Syndrome	Smooth philtrum, Wide nose, Broad nasal tip, Microcephaly, Broad philtrum, Prominent median palat...	OMIM:602342
Temtamy Syndrome	Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia of the corp...	ORPHA:1777
6Q25 Microdeletion Syndrome	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Microcephaly, Wide nasal bridge, Cleft...	ORPHA:251056
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Micrognathia, Hiatus hernia,...	ORPHA:1901
Frontoocular Syndrome	Prominent nasal bridge, Micrognathia, Narrow philtrum, High palate, Narrow mouth	OMIM:605321
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Short no...	ORPHA:2145
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Six lumbar ver...	OMIM:619122
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Joint lax...	OMIM:309520
Combined Oxidative Phosphorylation Deficiency 31	Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Bulbous nose, Wide mouth	OMIM:617228
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Harrod Syndrome	Microcephaly, Long nose, Dental malocclusion, High palate, Narrow mouth, Cerebral cortical atrophy	ORPHA:2115
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
Achondrogenesis Type 1A	Thickened nuchal skin fold, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondra...	ORPHA:93299
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnormal metac...	ORPHA:93262
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Distal Arthrogryposis Type 1	Narrow mouth	ORPHA:1146
8Q12 Microduplication Syndrome	Long philtrum, Everted lower lip vermilion, Wide nasal bridge, Narrow mouth	ORPHA:228399
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Short philtrum, Hypoplas...	ORPHA:228384
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Wide mouth, Short columella, Agene...	OMIM:619989
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal cranio...	ORPHA:2872
Spastic Paraplegia 47, Autosomal Recessive	Microcephaly, Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short philtrum, Hypoplasi...	OMIM:614066
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Limited elbow movement, Microgn...	ORPHA:94068
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplica...	OMIM:617127
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Sh...	OMIM:300558
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi...	OMIM:616420
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge, Microcephaly	OMIM:200130
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Prominent nose, Microcephaly, Bulbous nose, Wide nasal bridge, High palate, Sh...	OMIM:606220
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Cornelia De Lange Syndrome 5	Toe syndactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip...	OMIM:300882
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas...	ORPHA:391474
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Anteriorl...	OMIM:305450
Tetraploidy	Micrognathia, Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,...	ORPHA:3305
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Genu recurvatum, Kyphosis, Narrow palate, Short upper lip, T...	ORPHA:364028
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Microme...	ORPHA:1908
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress...	OMIM:108300
Congenital Disorder Of Glycosylation, Type Iy	Micrognathia, Microcephaly, Wide mouth, Widely spaced teeth, Hypoplasia of the corpus callosum, C...	OMIM:300934
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Dru...	OMIM:612938
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl...	OMIM:144750
Trisomy 9P	Dental crowding, Short neck, Abnormal nasal morphology, Kyphosis, Non-midline cleft lip, Impacted...	ORPHA:236
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Wide nasal bridge, Symphalangism affecti...	ORPHA:710
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Webbe...	OMIM:602196
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Block vertebrae, Proximal placement of thumb, Hia...	OMIM:304050
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Abnormality of the epiphysis of the femoral head,...	ORPHA:93316
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Broad nasal tip, Carious teeth, Mild microcephaly, Thick vermilion border, Secondary microcephaly...	ORPHA:363523
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, Clinodactyly, High palate, Anteverted nares, Depressed nas...	OMIM:608156
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Slender nose, Pursed lips, Microcephaly, Micrognathia, Narrow mouth, Wide nasal bridge, Macroceph...	ORPHA:562528
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ...	OMIM:300590
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ...	ORPHA:90650
Bloom Syndrome	Syndactyly, Prominent nose, Microcephaly, Cryptorchidism, Recurrent upper respiratory tract infec...	OMIM:210900
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Microcephaly, Carious teeth, High palate, Narrow mouth, Malar flattening, Short...	OMIM:219200
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental morphology, Micrognat...	ORPHA:319195
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Megalenceph...	OMIM:600325
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C...	OMIM:263750
Congenital Disorder Of Glycosylation, Type Ik	Death in infancy, Microcephaly, Micrognathia, Cerebral atrophy, Thin vermilion border	OMIM:608540
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Anteverted nares, Micrognathia, Dysplastic corpus callosum, Wide nasal bridge, Cerebellar hypopla...	OMIM:618810
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine...	OMIM:605039
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Prominent nasal bridge, Micrognat...	OMIM:300534
Benign Samaritan Congenital Myopathy	Wide nasal bridge, Narrow mouth	ORPHA:324581
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda...	OMIM:300484
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge	OMIM:614564
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Trisomy 17P	Wide nose, Prominent nose, Microcephaly, Micrognathia, Orofacial cleft, Cleft palate, Wide mouth,...	ORPHA:261290
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, 2-3 toe synd...	OMIM:106260
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Luo-Schoch-Yamamoto Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Wide mouth, Widely-spaced maxillary central ...	OMIM:619460
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca...	OMIM:147891
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the pons, Microceph...	OMIM:620157
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Micrognathia, Small hand, Short foot, High palate, Short philtrum, Scoliosis, Clinodac...	ORPHA:254531
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap, Carious teeth, Long nose, Na...	OMIM:617602
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge...	OMIM:618821
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Downturned corners of ...	OMIM:615162
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Death in infancy, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depressed nasal br...	OMIM:616809
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Abnor...	ORPHA:79106
Mulibrey Nanism	Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Peho Syndrome	Tented upper lip vermilion, Retrognathia, Progressive microcephaly, Hypoplasia of the corpus call...	OMIM:260565
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum...	OMIM:617991
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f...	OMIM:616145
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te...	ORPHA:1716
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Everted lower lip verm...	ORPHA:357175
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Temporomandibular joint ankylosis,...	ORPHA:2741
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, Microcephaly, Thic...	OMIM:618342
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Brachydactyly, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:614607
Coffin-Siris Syndrome 3	Wide nose, Depressed nasal bridge, Anteverted nares, Microcephaly, Cleft palate, Wide mouth, Macr...	OMIM:614608
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh...	OMIM:212720
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Short nose, Cerebr...	ORPHA:85277
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Limited neck range of motion, ...	OMIM:214300
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ...	OMIM:614120
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618379
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,...	ORPHA:1790
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Depressed nasal bridge, Micrognathia, Microcephaly, High palate, Hypoplasia of the corpus callosu...	OMIM:619616
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Odontochondrodysplasia 1	Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Relative macrocepha...	OMIM:184260
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Zaki Syndrome	Wide nose, Toe syndactyly, Anteverted nares, Micrognathia, Long fingers, Wide nasal bridge, Wide ...	OMIM:619648
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Arachnodactyly, Broad hallux, Anteverted nares, Joint hypermobility, Hyp...	ORPHA:481152
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Acrofacial Dysostosis Syndrome Of Rodriguez	Prominent nose, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Narrow mouth	OMIM:201170
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:352665
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microce...	ORPHA:1358
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Micrognathia, Acromicria, Small hand, Downturned corners of mouth, Short f...	ORPHA:254525
Amyotrophy, Hereditary Neuralgic	Narrow mouth, Depressed nasal bridge, Cleft palate, Long nasal bridge	OMIM:162100
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas...	ORPHA:1133
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Short n...	OMIM:264180
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Microcephaly, Micrognathia, Volvulus, Cerebral atrophy, Prog...	OMIM:617802
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous ...	ORPHA:261144
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe cutaneous ...	OMIM:600920
Diastrophic Dysplasia	Joint dislocation, Micromelia, Proximal placement of thumb, Micrognathia, Symphalangism affecting...	ORPHA:628
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta...	ORPHA:228396
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft...	OMIM:612913
Dyssegmental Dysplasia, Silverman-Handmaker Type	Microcephaly, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death, Malar flattening	OMIM:224410
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calc...	ORPHA:163966
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Short palm, Mala...	ORPHA:93328
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ...	OMIM:601224
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abnormality of the dentition, Inc...	OMIM:241500
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Agenesis of cerebellar vermis, Anteverted nares, Agangl...	ORPHA:59315
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Thin corpus callo...	OMIM:620240
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ...	OMIM:613443
Distal Duplication 5Q	Prominent nasal bridge, Microcephaly, Carious teeth, Micrognathia, Thin vermilion border, Narrow ...	ORPHA:96097
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Joint stiffness, Wide ...	ORPHA:1147
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Distal Duplication 15Q	Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge,...	ORPHA:1707
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the dentition,...	ORPHA:93160
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Non-midline cleft lip, Postaxial hand polydactyly, Wide nasal bridge, Cle...	ORPHA:2075
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short phi...	ORPHA:293725
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Kyphoscoliosis, Prominent nose, Metaphyseal sclerosis, Abnorm...	ORPHA:2976
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Mandibuloacral Dysplasia	Dental crowding, Delayed cranial suture closure, Micrognathia, Abnormal tongue morphology, Hypopl...	ORPHA:2457
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly...	OMIM:147950
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil...	ORPHA:1973
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Wide...	ORPHA:93267
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly	OMIM:245570
C Syndrome	Short metacarpal, Toe syndactyly, Anteverted nares, Accessory oral frenulum, Micromelia, Microgna...	OMIM:211750
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ...	ORPHA:83
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate...	ORPHA:314795
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, High palate, Short nose	ORPHA:1913
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Microcephaly, Cleft lip, Cleft palate, Macrocephaly, Downturned corners of mouth, Everted lower l...	OMIM:618089
Developmental And Epileptic Encephalopathy 87	Prominent nose, Bulbous nose, Cerebral atrophy, Wide mouth, High palate, Widely spaced teeth, U-S...	OMIM:618916
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cerebral atroph...	OMIM:618659
Mcdonough Syndrome	Mandibular prognathia, Prominent nose, Open bite, Underdeveloped nasal alae, Micrognathia, Crypto...	ORPHA:2471
Chromosome 16P13.3 Deletion Syndrome, Proximal	Death in infancy, Broad hallux, Prominent nose, Micrognathia, Microcephaly, High palate, Broad th...	OMIM:610543
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ...	ORPHA:2549
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Bifi...	ORPHA:2671
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Joint hypermobility, Hyperextensibili...	OMIM:130000
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal tongue physiology, Microcephaly, Wide mouth, Thin vermilion border, High palate, Narrow ...	ORPHA:544254
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
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Tracheomalacia, Micrognathia, Abnormality of the dentition, High, n...	ORPHA:2108
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Wormian bones, Dental crowding, Coxa valga, Cario...	OMIM:269300
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ...	ORPHA:93357
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Raine Syndrome	Mandibular prognathia, Natal tooth, Cerebral calcification, Depressed nasal bridge, Choanal atres...	OMIM:259775
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Absent nares, Narrow mouth, Aplasia/Hypoplasia of the cere...	ORPHA:990
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Cerebral calcification, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality o...	ORPHA:3220
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Acrofacial Dysostosis, Catania Type	Carious teeth, Cryptorchidism, Microcephaly, Short palm	OMIM:101805
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Microcephaly, Convex nasal ridge, Patellar hypoplasia, Micrognathia	OMIM:251240
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin...	ORPHA:794
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Sandal gap, Postaxial polydactyly, Micrognathia, Antev...	OMIM:615761
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,...	ORPHA:2701
Autosomal Recessive Stickler Syndrome	Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hype...	ORPHA:250984
Seckel Syndrome 8	Microcephaly, Convex nasal ridge, Micrognathia	OMIM:615807
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Wide nasal ridge, Microcephaly, Bulbous nose, Wide mouth, High palate, Sho...	OMIM:612936
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short meta...	ORPHA:217017
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge...	ORPHA:1252
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ...	OMIM:612292
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Bulbous nose,...	OMIM:614437
Branchiootic Syndrome	Branchial fistula, Cleft palate, Lip pit, Micrognathia	ORPHA:52429
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Micrognathia, Short neck, Kyphosis, Flexion contracture, Hip dislocation, ...	ORPHA:75840
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, Clinodactyly of...	ORPHA:2001
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph...	ORPHA:221016
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Narrow mouth, Cerebral atrophy, High palate, Long philtrum, Short nose	OMIM:615539
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Redundant neck skin, Dental crowding, Congenital hip disloc...	ORPHA:96170
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Microcephaly-Deafness-Intellectual Disability Syndrome	Microcephaly, Everted lower lip vermilion, Abnormal palate morphology, Micrognathia	ORPHA:2533
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormality of joint mobility, Short neck, Supernumerary tooth...	ORPHA:314621
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Progressive microcephaly, Widely spaced teet...	OMIM:617865
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Secondary microcephaly, Hypoplasia of the co...	OMIM:618437
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the n...	ORPHA:2095
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Recurrent fractures, Hypercalcemia, Craniosynostosis, Increase...	ORPHA:251004
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Short neck, Prominent nose, Downturned corner...	OMIM:601808
Desmosterolosis	Depressed nasal bridge, Intestinal malrotation, Absent septum pellucidum, Abnormality of the nose...	ORPHA:35107
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short palm, Joint stiffness, Hypoplasia of the ...	ORPHA:2588
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, M...	ORPHA:293939
Parietal Foramina 1	Encephalocele, Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodie...	OMIM:612731
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Multiple joint contractures, Micrognathia, High, narrow palate, ...	ORPHA:536516
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss...	OMIM:601492
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe...	ORPHA:782
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha...	OMIM:157170
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Thick nasal alae, Agenesis of cerebellar vermis, Micrognathia, Retr...	ORPHA:163961
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum	OMIM:611867
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Depressed nasal bridge, Anteverted nares, Deep philtrum, Wide nasal bridge, Wide mouth, Long phil...	ORPHA:1825
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Microcephaly, Thick lower lip vermil...	OMIM:616938
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
19P13.3 Microduplication Syndrome	Underdeveloped nasal alae, Prominent nose, Microcephaly, Micrognathia, Cleft palate, Cerebral atr...	ORPHA:447980
Gand Syndrome	Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, Wide mouth, Short philtrum	OMIM:615074
Braddock-Carey Syndrome 1	Anteverted nares, Microcephaly, Clinodactyly, Pierre-Robin sequence, Small hand, Wide nasal bridg...	OMIM:619980
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Spina bifida, Cleft ...	OMIM:109400
Pentasomy X	Camptodactyly of finger, Micrognathia, Microcephaly, Small hand, Wide nasal bridge, Short foot, R...	ORPHA:11
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru...	OMIM:601499
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Decreased calvarial ossification, Arthrogryposis mu...	OMIM:618265
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem...	OMIM:213980
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Microcephaly, Micrognathia, Wide nasal bridge, High palate, Narrow mouth	OMIM:617930
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Prominent nasal bridge, Micrognathia, Carious teet...	OMIM:214150
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the...	ORPHA:2994
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Relative macrocephaly, Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent...	ORPHA:251028
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Cerebral atrophy, Abnormal septum pelluci...	ORPHA:171839
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Microcephaly, Bifid nasal tip, Bilateral cleft lip and palate, High pal...	OMIM:618874
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Small han...	OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Mic...	OMIM:300260
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Arachnodactyly, Prominent nasal bridge, Micrognathia, Microcephaly, Thick lo...	ORPHA:2058
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, ...	ORPHA:1295
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Prominent nasal bridge, Rocker bottom foot, Micrognathia, Microcephaly, Dysplastic corpus callosu...	OMIM:604273
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Spastic Paraplegia 52, Autosomal Recessive	Prominent nose, Microcephaly, Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short phi...	OMIM:614067
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Scoliosis, Bifi...	OMIM:300958
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ...	OMIM:617952
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Short middle phalanx of finger, Ta...	OMIM:612626
Marden-Walker Syndrome	Anteverted nares, Microcephaly, Micrognathia, High, narrow palate, Pyloric stenosis, Cleft palate...	OMIM:248700
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Lissencephaly 6 With Microcephaly	Thin upper lip vermilion, Anteverted nares, Microcephaly, Bulbous nose, Partial agenesis of the c...	OMIM:616212
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca...	OMIM:108720
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Microcephaly, Micrognathia, Eruption failure, Hypodontia, Narr...	OMIM:619322
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
14Q11.2 Microduplication Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Microcephaly, Micrognathia, Wide nasal bridge	ORPHA:261229
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypo...	ORPHA:570
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Prominent nasal bridge, Mic...	ORPHA:3409
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Nizon-Isidor Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, High,...	OMIM:618872
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal lower lip morp...	ORPHA:1166
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Microcephaly, Bulbous nose, Wide mouth, High palate, Short philtrum,...	ORPHA:280763
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Wide nasal...	OMIM:619124
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the uln...	ORPHA:2909
Chromosome 3Q29 Duplication Syndrome	Microcephaly, Bulbous nose, Wide nasal bridge, Macrocephaly, Short nose	OMIM:611936
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Cleft palate, Orofacial cleft...	OMIM:601701
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, En...	OMIM:612462
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo...	OMIM:305100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, 2-3 toe s...	OMIM:614701
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti...	ORPHA:79345
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Macrocephaly, Hypoplasia of the corpus callosum, Narr...	OMIM:613735
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Microcephaly, Micrognathia, Narrow mouth, Cleft palate, High palate, Hypo...	OMIM:156610
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Congenital Myopathy 20	Ulnar deviation of the hand, Depressed nasal bridge, Elbow contracture, Toe joint contracture, Mi...	OMIM:620310
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Corpu...	ORPHA:357001
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ...	ORPHA:391372
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplas...	OMIM:261540
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615108
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa...	OMIM:300215
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Macrodontia, Microcephaly, Mi...	OMIM:618443
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Short neck, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Slen...	OMIM:613192
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Anteverted nares, Depressed nas...	ORPHA:1512
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Depressed nasal ridge, Cleft...	OMIM:613885
Microcephaly 10, Primary, Autosomal Recessive	Prominent nasal bridge, Choanal atresia, Reduced cerebral white matter volume, Micrognathia, Simp...	OMIM:615095
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal bridge, Cerebral atrophy, Wide mouth, Wide nasal base, Thin corpus callosum	OMIM:616521
Anencephaly 2	Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate	OMIM:619452
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis	OMIM:244460
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mo...	ORPHA:2077
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger,...	OMIM:614261
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi...	OMIM:606851
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, Joint hypermobility, High...	OMIM:607597
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Microcephaly, Dental malocc...	OMIM:613680
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Den...	OMIM:619795
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short neck, Micrognathia, High, narrow palate, Underdeveloped nasal alae, Joint stiffness, Cleft ...	ORPHA:2516
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose,...	OMIM:614105
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Microcephaly, Micrognathia, Wide nasal bridge, High palate, Hypoplasia ...	OMIM:270450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Micromelia, Micrognathia, Bowing of the legs, Cryptorchidism, Microcephaly, Wide nas...	ORPHA:1865
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foo...	OMIM:154400
15Q24 Microdeletion Syndrome	Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Thick...	ORPHA:94065
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed l...	ORPHA:800
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Micrognathia	ORPHA:1514
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor...	OMIM:255800
Fryns Syndrome	Thickened nuchal skin fold, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, ...	ORPHA:2059
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Depressed nasal bridge, Broad nasal tip, Abnormal femoral head mo...	ORPHA:1830
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum	OMIM:618218
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lo...	OMIM:616462
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m...	OMIM:201180
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Prominent nasal bridge, Microcephaly, Bulbous n...	OMIM:617360
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia...	OMIM:158170
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad m...	OMIM:277600
Intellectual Developmental Disorder, X-Linked 103	Wide mouth, Polymicrogyria, Anteverted nares	OMIM:300982
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla...	OMIM:608149
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Coffin-Siris Syndrome 11	Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous n...	OMIM:618779
Adducted Thumbs Syndrome	Cerebral dysmyelination, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft p...	OMIM:201550
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Depress...	OMIM:612582
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Large hands, Abnormal metaphysi...	ORPHA:1801
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Downturned corners of mouth, ...	OMIM:611961
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Anteriorly pl...	ORPHA:1299
Coffin-Siris Syndrome 6	Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narrow palate, Deep ...	OMIM:617808
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Intestinal lymphangiectasia, Depressed nasal bridge, Narrow mouth	OMIM:616006
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Depressed nasal bridge, Short neck, Micrognathia, Wide ant...	OMIM:614541
Infantile Spasms-Broad Thumbs Syndrome	Convex nasal ridge, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Cerebr...	ORPHA:3173
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, High...	ORPHA:436003
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver...	ORPHA:1699
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho...	OMIM:216100
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Microcephaly, Micrognathia, Dental malocclusion, Wide mou...	OMIM:610883
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Tooth agenesis, Microcephaly, Micrognathia	ORPHA:1964
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Macrodontia, Prominent nasal bridge, Proximal placement of thu...	OMIM:212066
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Abnormal finger flexion ...	OMIM:210600
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of toe, Natal tooth, Brachydactyly, Mandibular prognathia, Dental malocclusi...	OMIM:601957
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Syndactyly, Carious teeth, Pyloric stenosis, Enamel hypoplasia	OMIM:226700
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Overlapping toe, Postaxial polydactyly, Micrognathia, Microcephaly, Preax...	OMIM:618142
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose...	ORPHA:435638
Bor Syndrome	Branchial cyst, Retrognathia, Cleft palate	ORPHA:107
Wieacker-Wolff Syndrome	Anteverted nares, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis,...	OMIM:314580
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Micrognathia, Hypoplasia of the maxil...	ORPHA:314679
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltration of the e...	OMIM:615582
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Rhizomelia, Metaphyseal widening, Absent nasal brid...	OMIM:612813
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ...	ORPHA:2774
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Brachydactyly	ORPHA:2928
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615109
17P11.2 Microduplication Syndrome	Abnormal dental morphology, Microcephaly, Open bite, Micrognathia, Wide mouth, Hypoplasia of the ...	ORPHA:1713
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Increased nucha...	ORPHA:453499
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Dep...	OMIM:620001
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Microcephaly, Whi...	OMIM:193700
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t...	OMIM:613717
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognat...	ORPHA:1305
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Delayed cranial suture closure, Narrow nasal ridge, Mi...	OMIM:608612
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue	ORPHA:314652
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Microcephaly, Aplasia/H...	ORPHA:1597
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathi...	OMIM:619135
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Microcephaly, Micrognathia, Esophageal atresia, Deep philtrum,...	OMIM:610536
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Intellectual Developmental Disorder, Autosomal Dominant 61	Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Wide mouth, Smooth philtrum	OMIM:618009
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle...	OMIM:608545
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Retrognathia, Orofacial cleft, Wide mouth, Lissencephaly, Secondary mic...	OMIM:614583
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi...	OMIM:620114
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep philtrum, Dental malo...	ORPHA:329178
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Mi...	OMIM:602471
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele...	OMIM:601357
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Ruvalcaba Syndrome	Dental crowding, Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:3121
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Wide nose, Toe syndactyly, Camptodactyly of finger, Mic...	ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Anteverted nares, Depressed nas...	OMIM:612530
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Microcephaly, Abnormality of the dentition, Limb undergrowth, Abnormal metaphysis mor...	ORPHA:177
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum	OMIM:302950
Tarp Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Microg...	OMIM:311900
Sweeney-Cox Syndrome	Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Velopharyngeal insuffi...	OMIM:617746
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Cut...	OMIM:224690
Polyvalvular Heart Disease Syndrome	Dental crowding, Prominent nose, Micrognathia, Joint hyperflexibility, High palate, Short philtrum	ORPHA:228410
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous...	OMIM:619103
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Broad na...	OMIM:258865
Lambert Syndrome	Wide mouth, Malar flattening	OMIM:245550
Acro-Renal-Mandibular Syndrome	Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia...	ORPHA:958
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Supernumerary nipple, Apla...	ORPHA:1812
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Ulnar deviation of the hand, Micrognathia, Short neck, Wide anterior ...	OMIM:263210
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, 2-...	OMIM:618186
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Joint laxity, Prominent nasal bridge, Micrognathia, 2-3 toe syndactyly, Orofacial cleft, Wide mou...	ORPHA:502434
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Anteverted nares, Prominent nasal bridge, Wide mouth, High palate, Retrognathia	OMIM:615722
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Malar flattening, Open mouth	OMIM:620021
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Cleft palate, High palate, Narrow mouth, Retrognathia	OMIM:301091
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Wide nasal bridge, Ging...	ORPHA:137834
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Thickened nuchal skin fold, Vertebral fus...	ORPHA:2916
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Depressed nasal bridge, Anteverted nares, High, narrow palate, Bulbous nose, Thick lower lip verm...	OMIM:617268
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, High, narrow palate, Short neck, Downturne...	OMIM:122470
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Thick lower lip vermilion,...	OMIM:613804
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Downturned corners of mouth, Congenital contracture, Hi...	ORPHA:168572
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Carious teeth, Hypocalcemia, Ost...	OMIM:259700
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi...	OMIM:164900
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Reduced cerebral white matter volume, Megalence...	OMIM:616638
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Osteopenia, Thin upper lip vermilion, Joint laxity, Anteverted nares, ...	OMIM:607812
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High...	OMIM:309583
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Rhizomelia, Absent nasal bridge, Mesomelia, Broad t...	ORPHA:171866
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bul...	OMIM:603736
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta...	OMIM:619227
Holoprosencephaly	Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the vertebral bodies, Absent n...	ORPHA:2162
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Hype...	ORPHA:94089
8Q21.11 Microdeletion Syndrome	Wide nose, Exaggerated cupid's bow, Underdeveloped nasal alae, Abnormality of the dentition, Micr...	ORPHA:284160
Even-Plus Syndrome	Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, High palate, Hypodontia, Shor...	OMIM:616854
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognath...	OMIM:242860
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Prominent nose, Underdeveloped nasal alae, Supernumerary tooth, Micrognathia, Wide...	ORPHA:90024
Down Syndrome	Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, T...	ORPHA:870
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Short nose, Agenesis of corpus ca...	OMIM:300887
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Micrognathia, Short neck, Calcaneovalgus deformity, Knee flexion contracture, Congenital contract...	OMIM:616266
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short philtrum	ORPHA:261304
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial s...	ORPHA:2484
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Simplified ...	OMIM:618828
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo...	ORPHA:1190
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Tapered finger, Wi...	OMIM:618580
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ...	OMIM:612651
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Short tubular bones of the hand, Cleft p...	OMIM:200610
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Microcephaly, Micrognathia, Downturned corners of mouth, Hypoplasia of the brainstem, Oligodontia...	OMIM:616817
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding...	ORPHA:324410
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Abnormal form...	ORPHA:2839
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Joint stiffness, Narrow ...	ORPHA:1323
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Silver-Russell Syndrome 2	Relative macrocephaly, Micrognathia, 2-3 toe syndactyly, Downturned corners of mouth, Clinodactyl...	OMIM:618905
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo...	OMIM:119580
Fetal Hydantoin Syndrome	Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short...	ORPHA:1912
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Facet jo...	OMIM:618000
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Short clavicles...	OMIM:614592
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	ORPHA:2554
Distal Duplication 6P	Thin vermilion border, Micrognathia, Prominent nasal bridge, Narrow mouth	ORPHA:1745
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High...	OMIM:614188
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Ectroda...	OMIM:615465
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Wide mouth, Short foot, Median pseudocleft lip, Clinodactyly of...	OMIM:619758
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Micrognathia, Abnormality of the dentition, Eruption failure, Hig...	ORPHA:476126
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Narrow mouth, Po...	OMIM:614833
Schisis Association	Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cleft ...	ORPHA:63862
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Cerebral atrophy	ORPHA:496689
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, High, narrow palate, Ileus, C...	OMIM:620156
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia	ORPHA:1997
Oculoskeletodental Syndrome	Hypercalcemia, Elbow flexion contracture, Macroglossia, Oligodontia, Hypocalcemia	OMIM:618440
Dpm1-Cdg	Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Micrognathia, High, narrow palate...	ORPHA:79322
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Cleft palate, Orofacial clef...	ORPHA:1988
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ...	ORPHA:1458
Pai Syndrome	Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal ...	ORPHA:1993
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi...	ORPHA:1104
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee flexion contractur...	OMIM:601559
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Underdeveloped nasal alae, Dental malocclusion, Malar flattening, Broad c...	ORPHA:436245
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Underdeveloped nasal alae, Carious teeth, Microcephaly, Micrognathia, Wide nasa...	OMIM:613026
Acromesomelic Dysplasia 2A	Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p...	OMIM:200700
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Hypoplasia of...	OMIM:610015
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Abn...	ORPHA:221008
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Dow...	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Microcephaly, Micrognathia, Bu...	OMIM:617061
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Thin vermilion ...	OMIM:241410
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f...	OMIM:616894
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Depressed nasal bridge, Anteverted nares, Micromelia, Monkey wrench femoral ne...	OMIM:618870
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Arthrogryposis, Distal, Type 2B3	Narrow mouth	OMIM:618436
Frontofacionasal Dysplasia	Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no...	OMIM:229400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Short neck, Prominent nose, Long nose, Abnormal finger morp...	ORPHA:2636
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra...	OMIM:121050
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Bulbous nose, Deep philtrum, Wide nasal bridge	ORPHA:1237
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Malan Overgrowth Syndrome	Depressed nasal bridge, Macrocephaly, Hypoplasia of the brainstem, High palate, Hypoplasia of the...	ORPHA:420179
Arthrogryposis, Distal, Type 1A	Narrow mouth, Retrognathia, Trismus, Long nasal bridge	OMIM:108120
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Narrow mouth, Wide nasal bridge, Abnormality of primary teeth, Gingivitis, Macrocephaly	ORPHA:75496
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Narrow palate, Cleft palate, Anteriorl...	ORPHA:1555
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Moebius Syndrome	Decreased testicular size, Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed ...	OMIM:157900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi...	ORPHA:369837
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Preaxial pol...	OMIM:615948
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downt...	OMIM:618571
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia...	OMIM:608013
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the pons, Microcep...	OMIM:300749
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Genu valgum, Hypoplasia of the zygomati...	ORPHA:1778
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Micrognathia, Microcephaly, Wide nasal bridge, Cerebellar hypoplasia, Lon...	ORPHA:163937
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Protruding tongue, Micrognathia, Primary microcephaly, Cerebral atrophy, Progressive m...	OMIM:608779
Distal Deletion 12Q	Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r...	ORPHA:96149
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Osteopenia, Osteoporosis	ORPHA:2197
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Depressed nasal bridge, Anteverted nares, Tapered finger, Supernumerary tooth, Thin vermilion bor...	ORPHA:86818
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Cleft palate, Clinodactyly of the 5t...	ORPHA:2635
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Downturned corners of mouth, Short p...	OMIM:619297
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Global Developmental Delay With Speech And Behavioral Abnormalities	Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Microcephaly, Cryptorchidism, Macro...	OMIM:619243
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate, Abnormality of the nose	ORPHA:1681
Ramos-Arroyo Syndrome	Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Xerostomia, Conca...	ORPHA:1051
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Nar...	ORPHA:2063
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wideni...	OMIM:224400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ...	OMIM:613603
Trisomy 1Q	Microretrognathia, Wide nose, Depressed nasal bridge, Cleft palate, Macrocephaly, Cerebellar hypo...	ORPHA:261344
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, D...	OMIM:616901
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris...	OMIM:142945
Beta-Mercaptolactate Cysteine Disulfiduria	Arachnodactyly, Anteverted nares, Micromelia, Sandal gap, Genu valgum, High palate, Convex nasal ...	ORPHA:1035
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Limitation of joint mobi...	ORPHA:1486
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Narrow mouth, Perisylvian polymicrogyria, Secondary mic...	OMIM:615663
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnor...	OMIM:154500
Acrocraniofacial Dysostosis	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Pr...	ORPHA:949
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Micrognathia, Duodenal stenosis	ORPHA:2547
Monosomy 18P	Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Downturned corners of...	ORPHA:1598
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Hypoplasia ...	OMIM:613803
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Micrognathia, Microcephaly, ...	OMIM:616258
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bri...	OMIM:605627
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Short columella, Thic...	OMIM:611816
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, B...	OMIM:619188
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Short neck, Short toe, Flexion contracture, Wide nasal bridge, High palate, Talipes...	ORPHA:98791
Parenti-Mignot Neurodevelopmental Syndrome	Prominent nasal bridge, Craniosynostosis, Micrognathia, Short philtrum, Prominent nasal tip	OMIM:619873
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Microcephaly, Wide mouth, Long philtrum, Short nose, Global brain atrophy	OMIM:608776
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa...	OMIM:300990
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Cleft upper lip, Rec...	OMIM:300000
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Cerebr...	OMIM:618590
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose, Polymic...	OMIM:618774
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Cerebrocostomandibular Syndrome	Death in infancy, Hydranencephaly, Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, Myelomen...	ORPHA:1393
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Micrognathia, Wide nasal bridge, Wide mouth, Oligodontia, Long philtrum, Smooth...	OMIM:602562
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Postaxial polydactyly, Microg...	ORPHA:404440
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of th...	OMIM:608328
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corner...	ORPHA:369891
Galloway-Mowat Syndrome 6	Anteverted nares, Microcephaly, Downturned corners of mouth, Wide mouth, High palate, Microdontia	OMIM:618347
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Teebi-Shaltout Syndrome	Underdeveloped nasal alae, Broad nasal tip, High, narrow palate, Microcephaly, Wide nasal bridge,...	OMIM:272950
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, High, narrow palate, Bulbous nose, Downturned corners of mouth	OMIM:273390
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Intestinal malrotation, Wide nasal bridge, Long...	ORPHA:401935
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Microcephaly, Micrognathia, Thick lower lip vermilion, Dental maloc...	ORPHA:85321
Peho Syndrome	Anteverted nares, Microcephaly, Open mouth, Porencephalic cyst, Gingival overgrowth, Abnormal upp...	ORPHA:2836
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t...	OMIM:610253
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Malabsorption...	ORPHA:2315
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:158350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ...	OMIM:614207
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Delayed closure of the anterior fontan...	OMIM:225410
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Pterygium, Short phalan...	OMIM:263650
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Microce...	OMIM:609460
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Prominent nose, Mi...	OMIM:156200
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Postax...	OMIM:617866
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,...	ORPHA:280
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Sho...	OMIM:234050
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Microcephaly, Bulbous nose, Narrow palate, Depressed nasal tip, High palate, Narrow mouth, Malar ...	OMIM:604314
Micro Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Ap...	ORPHA:2510
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Webbed neck, Cystic hygroma	OMIM:153400
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open...	OMIM:617877
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit...	ORPHA:2323
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo...	ORPHA:2136
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Dental crowding, Convex nasal ridge, Narrow mouth	OMIM:615381
Hartnup Disorder	Glossitis	OMIM:234500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ...	ORPHA:3015
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral ...	OMIM:166220
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Microcephaly, Micrognathia, Cerebral atrophy, Secondary microcephaly, Hypoplasia of th...	OMIM:615851
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Microcephaly, Bulbous nose,...	OMIM:617982
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Reduced cerebral white matter volume, Underdeveloped nasal alae, Microc...	OMIM:615803
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge, Microcephaly	OMIM:616910
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Kapur-Toriello Syndrome	Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Short neck, Short thumb, Bulbou...	OMIM:244300
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr...	ORPHA:289266
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Tapered finger, Kyphosis, Wide nasal bridge, Joint hyperflexibility, Ev...	ORPHA:2479
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nose, Microcephaly, Death in...	OMIM:610756
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Simplified gyral pattern, Wide mo...	OMIM:619877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned...	OMIM:619950
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Microcephaly, Wide nasal bridge, High palate, Limb undergrowth, Short nose, Retrognathia	OMIM:618005
Desmosterolosis	Relative macrocephaly, Hypoplastic nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Pa...	OMIM:602398
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,...	OMIM:145420
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Microcephaly, Underdeveloped nasal alae, Cleft palate, Hydranencephaly, Short distal phalanx of f...	OMIM:601355
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Micrognathia, Bowing of the legs, Gingival overgrowth, Metopic depressio...	ORPHA:313855
Diamond-Blackfan Anemia 1	11 pairs of ribs, Cleft upper lip, Micrognathia, Short thumb, Absent thumb, Partial duplication o...	OMIM:105650
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi...	ORPHA:2789
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Neuhauser Syndrome	Osteopenia, Arachnodactyly, Depressed nasal bridge, Genu recurvatum, Micrognathia, Wide nasal bri...	OMIM:249310
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Gomez-Lopez-Hernandez Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Thin vermilion bor...	OMIM:601853
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Ohdo Syndrome, X-Linked	Depressed nasal bridge, Prominent nose, Hiatus hernia, Micrognathia, Bulbous nose, Wide nasal bri...	OMIM:300895
Icf Syndrome	Depressed nasal bridge, Micrognathia, Malabsorption, Protruding tongue, Macroglossia, Macrocephaly	ORPHA:2268
Craniofrontonasal Syndrome	Short neck, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Cleft upper lip, Wide nas...	OMIM:304110
Short-Rib Thoracic Dysplasia 12	Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Intestinal malrotation, Hamar...	OMIM:269860
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Anosmia, Cleft palate, Finger joint hypermobility, Hyposmia	OMIM:244200
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micro...	OMIM:619775
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Wide nasal bridge, Macroglossia, High palate,...	OMIM:613457
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Narrow mouth, M...	OMIM:177980
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Prominent fingertip pads, Mi...	OMIM:229850
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Wide nasal b...	OMIM:619179
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Microcephaly, 2-3 toe syndactyly, Cleft palate, Fur...	OMIM:616449
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:129900
Microcephaly 13, Primary, Autosomal Recessive	Micrognathia, Metaphyseal sclerosis, Prominent nose, Partial agenesis of the corpus callosum, Mic...	OMIM:616051
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Malar flatte...	ORPHA:485405
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal bridge, G...	OMIM:123790
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate...	OMIM:619074
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, M...	ORPHA:85199
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced tee...	ORPHA:98795
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones...	OMIM:614091
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Cerebral atrophy, Hypoplasia of t...	OMIM:601353
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Malar flattening, S...	OMIM:251450
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Microcephaly, Cerebral atrophy, Wide mouth, Long phil...	OMIM:103050
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micro...	OMIM:244450
7Q31 Microdeletion Syndrome	Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Clinodactyly of the 2nd...	ORPHA:251061
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con...	OMIM:248370
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo...	ORPHA:73223
Short Stature And Facioauriculothoracic Malformations	High palate, Short neck, Cleft palate, Cleft upper lip	OMIM:609654
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Acrocephalopolydactyly	Limb undergrowth, Short nose, Depressed nasal ridge, Brachydactyly	ORPHA:221054
Johnson Neuroectodermal Syndrome	Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C...	ORPHA:2316
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, U...	ORPHA:1101
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,...	OMIM:616898
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Microcephaly, Bulbous nose, Widely spaced teeth, Bifid nose, Narrow mouth...	ORPHA:261279
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Relative macrocephaly, Mandibular prognathia, Duodenal polyposis, Abnormality of canine, Broad na...	ORPHA:261584
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Tapered finger, Trismus, Broad nasal tip,...	OMIM:254940
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Warburg Micro Syndrome 3	Microcephaly, Micrognathia, Narrow palate, Downturned corners of mouth, Secondary microcephaly, H...	OMIM:614222
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Microcephaly, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hyd...	OMIM:225790
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower l...	OMIM:300354
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Micrognathia, Cleft palate, Anteriorl...	ORPHA:1225
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Joint hypermobility, Protruding tongue, Tapered fi...	OMIM:617804
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Op...	OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dental crowding, Microcephaly...	OMIM:300998
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti...	OMIM:601088
Ring Chromosome 10 Syndrome	Long philtrum, Thin vermilion border, Hypocalcemia, Micrognathia	ORPHA:1438
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Autosomal Recessive Centronuclear Myopathy	Retrognathia, High palate, Bifid uvula, Narrow mouth	ORPHA:169186
Dyskeratosis Congenita	Neoplasm of the pancreas, Esophageal stenosis, Cerebral calcification, Abnormality of the dentiti...	ORPHA:1775
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Short clavicles, Convex nasal ridge	OMIM:619793
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft...	ORPHA:79107
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Cavum sep...	ORPHA:464738
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Ante...	OMIM:611174
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Meier-Gorlin Syndrome 2	Microcephaly, Micrognathia, Underdeveloped nasal alae, Narrow mouth, Smooth philtrum	OMIM:613800
Nabais Sa-De Vries Syndrome, Type 2	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Tapered finger, P...	OMIM:618829
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal hand metaphysis morphology, Ulnar metaphyseal irregularity, Broad proximal phalanges of ...	ORPHA:174
Lipoid Proteinosis	Nasal polyposis, Cerebral calcification, Abnormal oral mucosa morphology, Abnormality of the ging...	ORPHA:530
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Relative macrocephaly, Brachydactyly, Depressed nasal bridge, Anteverted n...	OMIM:271510
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Micrognathia, Hypoplasia ...	ORPHA:96334
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Cleft lip, D...	OMIM:620098
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Limb undergrowth	ORPHA:453510
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Arthrogryposis, Distal, Type 2B2	Narrow mouth	OMIM:618435
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Prominent nasal bridge, Microcephaly, Long nose, Pierre-Robin ...	OMIM:619184
Fibrochondrogenesis 2	Malar flattening, Short nose, Anteverted nares, Micrognathia	OMIM:614524
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Orofacial cleft, Narr...	ORPHA:3301
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Anteverted nares, Depressed nasal bri...	ORPHA:97360
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg...	ORPHA:3241
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Acromesomelic Dysplasia, Grebe Type	Death in infancy, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Brachydactyly, Tarsa...	ORPHA:2098
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Cerebellar vermis hypoplasia, ...	OMIM:619383
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 5th finger	OMIM:167730
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg...	ORPHA:373
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Microcephaly, Micrognathia, Underdeveloped nasal alae, Short nose	ORPHA:2083
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Malar prominence, Short neck, Micrognathia, Hyperlordosis, Kyphosis, ...	ORPHA:2522
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Convex nasal ridge, Narrow mouth	ORPHA:1979
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, High, nar...	ORPHA:2879
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Megalencephaly, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Macrocephaly, Open mout...	OMIM:611087
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Microcephaly, High, narrow palate, Wide mouth, Thin vermil...	ORPHA:3051
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef...	ORPHA:261236
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig...	OMIM:115150
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Cleft palate, Short philtrum,...	ORPHA:261190
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Microcephaly, Midline brai...	OMIM:247200
12Q14 Microdeletion Syndrome	Wide nose, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Osteopoikilosis, Downtur...	ORPHA:94063
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Microcephaly, Microg...	OMIM:619833
Nemaline Myopathy 2	Long philtrum, High palate, Cleft palate, Narrow mouth	OMIM:256030
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Short neck	OMIM:616994
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga	OMIM:109120
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate	OMIM:607371
Abetalipoproteinemia	Retinopathy, Abetalipoproteinemia, Retinal degeneration, Acanthocytosis	OMIM:200100
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Depressed nasal b...	ORPHA:140
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Congenital Varicella Syndrome	Cerebral cortical atrophy, Micromelia, Microcephaly	ORPHA:291
Macs Syndrome	Joint laxity, Irregular dentition, Micrognathia, Osteoporosis, Gingival overgrowth, Wide nasal br...	OMIM:613075
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Wide nasal bridge, Wide mouth, Long philtrum, Upturne...	OMIM:614684
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Vertebral clefting, Cleft palate, Ap...	OMIM:301043
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Dandy-Walker malformation, Thick cerebral cortex, Anteverted nares, Broad nasal tip, Carious teet...	ORPHA:357074
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Cessation of head growth, Mild microcephaly, Wide mouth...	ORPHA:411511
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Microcephaly, Thin vermilion border, Narrow mouth	OMIM:612447
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Choanal stenosis, High palate, Depressed nasal bridge, Anteverted ...	OMIM:615485
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Cleft palate, Osteolytic defects of the distal phalanges of th...	ORPHA:50815
Short Stature-Micrognathia Syndrome	Rhizomelia, Bowing of the legs, Micrognathia, Coxa valga, Metaphyseal widening, Cryptorchidism, M...	OMIM:617164
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Pterygium Colli, Isolated	Short nose	OMIM:177990
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia	OMIM:239200
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Broad nasal tip, Protruding tongue, Microcephaly, Submucous cleft hard palate, W...	OMIM:618106
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l...	OMIM:619194
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Everted lower lip vermili...	OMIM:617101
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W...	ORPHA:79500
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Narrow mouth	OMIM:132450
Bamforth-Lazarus Syndrome	Cleft palate, Bilateral choanal atresia	OMIM:241850
2P15P16.1 Microdeletion Syndrome	Prominent nasal bridge, Optic nerve hypoplasia, Microcephaly, Wide nasal bridge, High palate, Eve...	ORPHA:261349
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Achondrogenesis, Type Ib	Malar flattening, Stillbirth, Short ribs, Micromelia	OMIM:600972
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Thin upper lip vermilion, Thoracic scoliosis, Broad hallux, Depresse...	OMIM:620186
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Narrow nasal ridge, Wi...	OMIM:275210
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Pierre-Robin sequence, Clef...	OMIM:217980
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide nasal ...	OMIM:618950
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Micrognathia, Microcephaly, Cleft lip, Partial duplication of thum...	OMIM:618348
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:604292
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth...	OMIM:194190
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent crus of ...	ORPHA:1449
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:90154
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Downturned corners of mouth, Thick vermilion border, Macrocephaly, Aplasia/Hypo...	ORPHA:1185
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose, Cerebellar hypoplasia, Microcephaly	OMIM:618087
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Short neck, Micrognathia, Wide nasal bridge, Submucous cleft...	ORPHA:2282
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Macrocephaly, Lymphoid nodular hyperplasia, Short nose	ORPHA:210548
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Narrow mouth, Malar flattenin...	OMIM:228520
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Fl...	OMIM:180849
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Microcephaly, Narrow mouth, Microdontia, Short nose, Da...	ORPHA:2719
Trisomy 18	Microretrognathia, Camptodactyly of finger, Spina bifida, Choanal atresia, Esophageal atresia, No...	ORPHA:3380
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Microcephaly, Micrognathia, Bulbous nose, Narrow mouth, Short nose, Duode...	OMIM:614114
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Malar flattening, Short nose	OMIM:614613
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ...	OMIM:614749
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, M...	ORPHA:3035
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, High pal...	OMIM:249420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Generalized bone demineralization	ORPHA:199299
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Thick lower lip vermilion, N...	OMIM:608624
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Microcephaly	ORPHA:2204
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Prominent nasal bridge, Narrow mouth, Abnormal mandible morphology, Clef...	ORPHA:2215
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Kyphosis, Hypop...	OMIM:183900
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Broad hallux, Sandal gap, Short 2nd finger,...	OMIM:600987
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Denta...	OMIM:619312
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, M...	ORPHA:2759
X-Linked Intellectual Disability, Wilson Type	Wide mouth, Thick vermilion border, Mandibular prognathia, Microcephaly	ORPHA:85290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Metaphyseal...	OMIM:613091
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion...	ORPHA:363444
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Depressed nasal bridge, Arachnodactyly, Rhizomelia, Micr...	ORPHA:3379
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Micrognathia	OMIM:243440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Prominent nose, Abnormality of the dentition, Bulbous ...	ORPHA:313947
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplas...	ORPHA:1827
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Malar prominence, Cleft upper lip, Microgn...	OMIM:251260
Infantile Systemic Hyalinosis	Osteopenia, Short palm, Abnormal dental morphology, Osteomalacia, Micromelia, Malabsorption, Camp...	ORPHA:2176
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Micrognathia, Malabsorption, Cryptorchidism, Microcephal...	ORPHA:452
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt...	OMIM:618430
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose	ORPHA:1914
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Esophag...	ORPHA:93271
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Anteverted nares, Microcephaly, Bulbous nose, Thick lower lip vermilion...	OMIM:220500
3Mc Syndrome 1	Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Wide anterior fo...	OMIM:257920
Cousin Syndrome	Micrognathia, Short neck, Clinodactyly of the 5th finger, Wrist flexion contracture, Anterior rou...	OMIM:260660
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, Cerebral atr...	OMIM:616430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom...	OMIM:618316
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Microcephaly, Depressed nasa...	OMIM:616038
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the dentition, Microce...	ORPHA:363528
Monosomy 13Q34	Hypercalcemia, Micrognathia	ORPHA:96168
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Webbed neck, Knee dislocation, ...	OMIM:245600
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Micrognathia	OMIM:617183
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Exaggerated cupid's bow, Narrow nasal ridg...	OMIM:619293
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Prominent nasal bridge, Cleft upper lip, Pyloric steno...	OMIM:610443
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
X-Linked Intellectual Disability, Pai Type	Prominent nasal bridge, Narrow mouth	ORPHA:85322
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet...	OMIM:102500
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia	ORPHA:261250
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly	ORPHA:2220
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Short neck, Kyphosis, Menin...	OMIM:130720
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Hypoparathyroidism, Micromelia, Lissencephaly, Secondary microcephaly, Cerebell...	ORPHA:50810
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep...	OMIM:618381
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Thoracic scoliosis, Micrognathia, Short neck, Narrow palate, Femoral bow...	OMIM:617022
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Dominant Beta-Thalassemia	Bowing of the long bones, Depressed nasal bridge, Abnormality of the dentition, Malar prominence,...	ORPHA:231226
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Microcep...	ORPHA:261112
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Intellectual Developmental Disorder, Autosomal Dominant 47	Prominent nasal bridge, Microcephaly, Cerebral atrophy, Wide mouth, Widely-spaced incisors	OMIM:617635
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cleft upper lip...	OMIM:242840
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Prominent nasal bridge, Prominent nose, Microcephaly, Retrognathia, Wide m...	OMIM:619576
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, C...	OMIM:139210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's bow, Bulbous nose, Cerebe...	ORPHA:284169
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Cerebrofaciothoracic Dysplasia	Wide nose, Cerebellar vermis hypoplasia, Cleft upper lip, Cleft palate, Wide mouth, Hypoplasia of...	ORPHA:1394
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Alazami Syndrome	Wide nose, Mild microcephaly, Wide mouth, Short philtrum, Widely spaced teeth, Thick vermilion bo...	ORPHA:319671
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, Short...	OMIM:617140
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Median cleft lip, Cleft palate, Abnormal morphology of the radius	ORPHA:2165
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Tented philtr...	ORPHA:363659
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Increased head circu...	OMIM:300868
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip,...	OMIM:249000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Redundant neck skin, Rocker bottom foot, Anteverted nares, Micrognat...	OMIM:214100
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Wide nose, Anteverted nares, Abnormal cortical gyration, Bulbous nose, Thick lower lip vermilion,...	ORPHA:314647
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Micrognathia, Tapered finger, Bulbous nose, Wide mouth, Macro...	OMIM:614501
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract...	OMIM:265000
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, B...	OMIM:618644
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Hypoplasia of the zygomatic bone...	ORPHA:2715
White-Sutton Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the pons, Microc...	ORPHA:468678
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Wide mouth, Microcephaly, Esophagitis, Micrognathia	ORPHA:79350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Large hands, Short columella, U...	ORPHA:1770
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
Cole-Carpenter Syndrome	Delayed eruption of teeth, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent...	ORPHA:2050
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Prominent nasal bridge, Narrow mouth	ORPHA:261222
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Micromelia, Metaphyseal cu...	OMIM:613320
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morp...	ORPHA:556955
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Clinod...	ORPHA:363611
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis	ORPHA:466722
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Osteoporosis, Hyperphosphatemia, Subcutaneous ossification, Hypocalcem...	OMIM:103580
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Hamartoma of tongue, Micrognathia, Esophageal diverticulum, ...	OMIM:617925
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Wide mouth, Cessation of head growth, Mandibular prognathia	ORPHA:411515
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg...	ORPHA:261211
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Macrocephaly, Short nose	ORPHA:293948
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Severe X-Linked Intellectual Disability, Gustavson Type	Microcephaly, Micrognathia, Recurrent upper respiratory tract infections, Cerebellar hypoplasia, ...	ORPHA:3078
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Microcephaly, Cryptorchidism, Macrocephaly, Hypoplasia ...	ORPHA:500159
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly, Decreased testicular size	OMIM:614838
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Dental crowding, Orofacial cleft, Verteb...	ORPHA:2052
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis...	ORPHA:2003
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Macrocephaly, Cal...	ORPHA:77301
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Thin vermilion border, Hypoplasia of the zygoma...	OMIM:614800
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Hypodysplasia of the corpus callosum, Microc...	OMIM:257300
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the corpus callosum...	OMIM:617822
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Downturned corners of mouth, Wide mouth, Depressed nasal bridge, Short philtrum	OMIM:619759
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Macroc...	ORPHA:429
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Decreased respons...	ORPHA:488632
Branchio-Oculo-Facial Syndrome	Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Wide nasal brid...	ORPHA:1297
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal bridge, Overlapping toe, Protruding ...	ORPHA:99843
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal...	ORPHA:1352
Familial Visceral Myopathy	Hyperparathyroidism, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Micrognathi...	ORPHA:2604
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow p...	OMIM:309800
Fraser Syndrome 1	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Dental ...	OMIM:219000
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Prominent nasal bridge, Choanal atresia, Cleft palate, High palate, Macrocephaly, Retrognathia, A...	ORPHA:52055
3C Syndrome	Depressed nasal bridge, Intestinal malrotation, Micrognathia, High, narrow palate, Wide nasal bri...	ORPHA:7
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Anteverted nares, Microcephaly, Thick lower lip vermilion, Wide nasal b...	ORPHA:1942
Nail-Patella Syndrome	Lumbar hyperlordosis, Spina bifida, Cleft upper lip, Patellar aplasia, Hypoplastic radial head, P...	OMIM:161200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hyp...	OMIM:617895
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc...	OMIM:166200
Developmental Delay With Or Without Dysmorphic Facies And Autism	Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, ...	OMIM:618454
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Vert...	ORPHA:531151
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Hypoplasia of the odon...	ORPHA:750
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Carious teeth, Osteoporosis, Recurrent fractures	OMIM:126550
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period...	ORPHA:955
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri...	OMIM:268300
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Relative macrocephaly, Dental crowding, Malar flattening, Prominent nose, Hi...	OMIM:300967
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Micrognathia, Cleft palate, Low posterior hairline, Broad neck, Bifid uvula	OMIM:606164
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Orofacial cl...	ORPHA:65286
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Microg...	ORPHA:363686
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat...	ORPHA:536532
Nijmegen Breakage Syndrome	Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Short neck, Prominent nose, Deep p...	ORPHA:647
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Micrognathia, Meningoencephalocele, Cleft palate, Conge...	OMIM:236670
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Micromelia, Microcephaly, De...	ORPHA:1675
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Genu varum, Flared metaphysis, Coxa vara, Thin vermilion border, Short ribs, Short fe...	OMIM:602557
Short Stature And Microcephaly With Genital Anomalies	Narrow mouth, Microcephaly, Convex nasal ridge, Prominent nose	OMIM:618702
Chromosome 18P Deletion Syndrome	Toe syndactyly, Redundant neck skin, Anteverted nares, Micrognathia, Short neck, Depressed nasal ...	OMIM:146390
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Small ...	ORPHA:459061
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Depressed nasal ridge, Triangular shape...	OMIM:271665
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Depressed nasal bridge, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Stillbi...	OMIM:151210
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Progressive leukoencephalopathy, Tented upper lip vermilion, Abnormal cortical gyration, Microgna...	OMIM:617527
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Microcephaly, Wide nasal bridge, Cleft palate, Macrocephaly	ORPHA:1797
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Depressed ...	OMIM:113620
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, High palate, ...	OMIM:618500
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Underdeveloped nasal alae, Prominent nose, Microcephaly, Wide nasal bridge, Coxa vara...	ORPHA:2637
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Bifid uvula, Anteverted n...	ORPHA:177907
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi...	ORPHA:263508
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly...	OMIM:610759
Ssr4-Cdg	Abnormality of upper lip vermillion, Absent septum pellucidum, Microcephaly, Wide mouth, Widely s...	ORPHA:370927
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Abnormality of mouth shape	ORPHA:83619
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate,...	ORPHA:2953
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Flexion contracture, Bifid uvula, D...	OMIM:130070
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Cerebral a...	OMIM:615398
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Short tibia, Genu varum, Hypo...	OMIM:607778
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Anteverted nares, Abnormal dental enamel morph...	ORPHA:2616
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Celiac Disease, Susceptibility To, 1	Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En...	OMIM:212750
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Micrognathia, Wide nasal bridge, Macrocephaly, High palate...	ORPHA:3309
Double Outlet Right Ventricle	Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco...	ORPHA:3426
Frontometaphyseal Dysplasia	Subglottic stenosis, Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal...	ORPHA:1826
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia	ORPHA:99880
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus	OMIM:616155
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Cleft palate...	OMIM:619123
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Macrocephaly, Bilateral ta...	OMIM:601356
Weiss-Kruszka Syndrome	Anteverted nares, Exaggerated cupid's bow, Hypoplasia of the corpus callosum, Short nose, Agenesi...	OMIM:618619
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Congenital hip dislocation, Intestinal malrotation, Cleft pala...	OMIM:113650
Acromesomelic Dysplasia 4	Mandibular prognathia, Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Promin...	OMIM:619636
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Wide mouth, Progressive microcephaly...	OMIM:300953
Beta-Thalassemia Major	Bowing of the long bones, Depressed nasal bridge, Abnormality of the dentition, Malar prominence,...	ORPHA:231214
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Cleft palate, Concave nasal ridge, Short philtrum	OMIM:617337
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Cerebral atrophy, Micrognathia	OMIM:256600
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
46,Xy Sex Reversal 4	Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Clef...	OMIM:154230
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Microcephaly, Narrow mouth, Bu...	OMIM:309590
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nose, Prominent nose, Long nose, Microcephaly, Micrognathia, Wide nasal bridge, Macrogyria, ...	ORPHA:2995
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme...	ORPHA:2639
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Downturned corners of mout...	OMIM:300860
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Micrognathia, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Abnor...	ORPHA:2707
Developmental And Epileptic Encephalopathy 6B	Narrow mouth	OMIM:619317
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations, Cerebral atrophy, Progressive microcephaly	OMIM:614678
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
Lathosterolosis	Cerebral calcification, Anteverted nares, Microcephaly, Micrognathia, Bulbous nose, Gingival over...	ORPHA:46059
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Abnormal columella morphology, Subcortical cerebral atrophy, High palate, Narrow mouth...	ORPHA:2463
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Downturned corners of m...	ORPHA:1064
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,...	OMIM:603543
Velocardiofacial Syndrome	Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Tarp Syndrome	Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Cry...	ORPHA:2886
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Metatarsus a...	ORPHA:513456
Parathyroid Carcinoma	Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia	ORPHA:143
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Macroc...	ORPHA:63446
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Tooth agenesis, Mesom...	OMIM:616229
C Syndrome	Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Disl...	ORPHA:1308
Focal Dermal Hypoplasia	Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly pla...	OMIM:305600
22Q11.2 Duplication Syndrome	Wide nose, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, Smooth philtrum	ORPHA:1727
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Anosmia, Cleft palate	OMIM:612370
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Death in infancy, Camptodact...	ORPHA:2008
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinusit...	OMIM:604173
Prolidase Deficiency	Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Genu ...	ORPHA:742
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Kyphoscoli...	ORPHA:488642
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Micrognathia, Wide nasal bridge, Thin vermilion border, Hig...	ORPHA:251071
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D...	OMIM:614008
Pettigrew Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Cerebral calcification, Prominent nose, Micr...	OMIM:304340
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Narrow nasal ridge, Underdeveloped nasal alae, Micrognathia, Long fingers, Corti...	OMIM:618343
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Depressed nasal bridge, Microcephaly, Carious teeth, Micrognathia, Wide...	OMIM:616734
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal...	OMIM:618476
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Wide nose, Anteverted nares, Wide mouth, Widely spaced teeth, Macroc...	OMIM:619056
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Exaggerated cupid's bow, Narrow nasal ridge, Microcephaly, Hypoplasia of t...	OMIM:619512
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Carious teeth, Hypoplasia of teeth	OMIM:613312
Macrocephaly/Autism Syndrome	Depressed nasal bridge, High palate, Biparietal narrowing, Long philtrum, Short nose, Postnatal m...	OMIM:605309
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum	ORPHA:2983
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Flared metaphysis, Short ribs, Cerebellar hypoplasi...	OMIM:187601
Cadds	Abnormal cerebral white matter morphology, Short nose, Micrognathia	ORPHA:369942
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Holoprosencephaly 11	Cleft lip, Agenesis of corpus callosum, Cleft palate, Microcephaly	OMIM:614226
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Broad nasal tip, Metatarsus ad...	ORPHA:3041
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Micrognathia...	ORPHA:2437
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Wide mouth, Widely sp...	ORPHA:98794
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Prominent nasal bridge, Broa...	ORPHA:457193
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini...	ORPHA:3044
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Orofacial cleft, Finger clinodactyly, Absent distal interphalangeal...	ORPHA:1692
Kabuki Syndrome 2	Natal tooth, Broad nasal tip, Micrognathia, Microcephaly, Lower lip pit, Dental malocclusion, Cle...	OMIM:300867
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ...	OMIM:619859
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Preaxial polydactyl...	OMIM:603671
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Long nose, Short phalanx of finger, Broad metacarpals, Short metacarpal, Anteverted...	ORPHA:508533
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r...	ORPHA:2399
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Protruding tongue, Microcephaly, Bulbous nose, 2-3 toe syndactyly, Larg...	ORPHA:1446
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose	ORPHA:1642
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Short nose, Optic nerve hypoplasia, Micrognathia	ORPHA:496790
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal bridge, Broad nasal tip, Depressed nasal ridge, Gingival o...	ORPHA:354
Genitopatellar Syndrome	Delayed eruption of teeth, Short palm, Wide nose, Prominent nasal bridge, Prominent nose, Microgn...	ORPHA:85201
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Microcephaly, Hypodontia, Hypoplasia of the corpus callosum, Short nose	ORPHA:544503
Toriello-Carey Syndrome	Aganglionic megacolon, Microcephaly, Micrognathia, Partial agenesis of the corpus callosum, Cleft...	ORPHA:3338
Menke-Hennekam Syndrome 2	Narrow nasal bridge, Thin upper lip vermilion, Duodenal ulcer, Depressed nasal bridge, Overlappin...	OMIM:618333
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Microcephaly, Micrognathia, Bulbous...	OMIM:309500
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Anteverted nares, Thick lower lip ve...	OMIM:618027
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Supernu...	OMIM:617088
Koolen-De Vries Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Prominent nasal bridge, Abnormality of the den...	ORPHA:96169
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Aplasia/Hypoplasia of the corpus callosum, Macroc...	ORPHA:2143
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Severe generalized osteoporosis, Micrognathia, Kyphosc...	OMIM:210730
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Tooth agenesis, Jo...	ORPHA:808
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microceph...	OMIM:616835
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Cerebral atr...	OMIM:614080
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Short neck, Broad nasal tip, ...	ORPHA:96061
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Pr...	OMIM:147250
Aase-Smith Syndrome I	Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Dandy-Walker mal...	OMIM:147800
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Microcephaly, Wide nasal bridge, Cleft palate, Hypoplasia of the corpus ca...	ORPHA:66629
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure...	ORPHA:2250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Antev...	ORPHA:280633
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, E...	ORPHA:261494
Tolchin-Le Caignec Syndrome	Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow...	OMIM:618971
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence...	OMIM:620183
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig...	ORPHA:1974
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Cryptorc...	ORPHA:3144
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Cleft palate, Tetraamelia, Anal atr...	OMIM:273395
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Narrow mouth, En...	OMIM:226600
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H...	OMIM:619080
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Tented upper lip vermilion, Abnormal cortical gyration, Microcepha...	ORPHA:521426
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Absent frontal sinuses, Increased density of long bone diaphyses, High ...	OMIM:305620
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Diastema, Bulbous nose, Downturned corners of mouth, Wide mouth, Cerebe...	OMIM:615009
Galloway-Mowat Syndrome 3	Hiatus hernia, Microcephaly, Micrognathia, Simplified gyral pattern, Cerebral atrophy, High palat...	OMIM:617729
Charge Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof...	ORPHA:138
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Anteverted nares, Protruding tongue, Micrognathia, Wide n...	OMIM:617062
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism	ORPHA:85173
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Thick vermilion border, Malar f...	OMIM:616723
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spastic Paraplegia 51, Autosomal Recessive	Microcephaly, Long nose, Bulbous nose, Wide nasal bridge, Wide mouth, Short philtrum, Cerebral co...	OMIM:613744
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Cleft max...	ORPHA:508488
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Joint stiffness, Kyphosis,...	ORPHA:2062
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, Short nose	ORPHA:2031
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplas...	ORPHA:2491
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia...	OMIM:616268
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Achard Syndrome	Broad skull, Arachnodactyly, Micrognathia	OMIM:100700
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu...	ORPHA:3472
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating...	OMIM:609441
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Dental crowding, Megalencephaly,...	ORPHA:3063
Distal Deletion 6P	Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Underdeveloped...	ORPHA:96125
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Underdeveloped nasal alae, Micrognathia, Wide mouth, Thick vermilion border, High palate, Short p...	OMIM:300986
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Metaphyseal widening,...	OMIM:271640
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Depressed nasal bridge, Anteverted nares, Narrow philtrum, Thick lower lip vermilion, Wide nasal ...	ORPHA:163654
Hutchinson-Gilford Progeria Syndrome	Malar flattening, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, ...	ORPHA:397590
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Prominent nose, Microcephaly, Wide nasal bridge, Wide mouth, Biparietal narrowing, Long philtrum,...	ORPHA:1292
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Reduced cerebral wh...	OMIM:620075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Cleft upper lip, Cleft palate, Macroglossia, Congenital contract...	OMIM:613150
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Microgna...	OMIM:620029
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Wide mouth, Macroglossia, High palate, Short philtrum	ORPHA:280384
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia	ORPHA:2728
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Short ribs, Limb undergrowth, Abnormal metaphysis morpho...	ORPHA:1803
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal...	OMIM:227330
Jaberi-Elahi Syndrome	Depressed nasal bridge, Microcephaly, Globus pallidus hypointensity on susceptibility-weighted im...	OMIM:617988
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the neck, Abnormality of the dentition, Tetraamelia, Cleft upper lip	OMIM:273400
Thakker-Donnai Syndrome	Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned corners of mouth, Rectovagi...	ORPHA:1780
Noonan Syndrome 13	Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Wide mouth, High palate, Widely ...	OMIM:619087
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Osteoporosis, Concave na...	OMIM:619525
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia, Gene...	ORPHA:85138
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Turnpenny-Fry Syndrome	Relative macrocephaly, Thin upper lip vermilion, Mandibular prognathia, Cerebellar vermis hypopla...	OMIM:618371
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Kyp...	ORPHA:2461
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Hyperphosphatemia, Hypocal...	ORPHA:79444
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ...	ORPHA:79243
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the dentition, Microcephaly,...	OMIM:615802
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ...	OMIM:614609
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Absent septum pellucidum, Protruding tongue, Microcephaly, Downturned corners o...	ORPHA:96147
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C...	OMIM:614230
15q26 overgrowth syndrome	Mandibular prognathia, Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micro...	DECIPHER:81
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Depressed nasal bridge	ORPHA:99688
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Arthritis, Glossoptosis, Hypocalcemia	ORPHA:47
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft palate, Cleft upper lip	ORPHA:96181
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Dental crowding, Micrognathia, High, narrow palate, Pierre-Robin sequence,...	ORPHA:96182
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Short palm, Exaggerated median tongue furro...	OMIM:312870
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo...	OMIM:602450
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Short philtrum, Retrognathia...	ORPHA:1194
Distal Deletion 10Q	Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Microcephaly, Micrognathia, Wid...	ORPHA:96148
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing...	ORPHA:2021
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Arthritis, Hypoal...	ORPHA:247353
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, High palate, Narrow mouth	OMIM:616866
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Micrognathia, Hypokalemia, High palate, Hypocalcemia	OMIM:617913
Gracile Bone Dysplasia	Decreased skull ossification, Ankyloglossia, Hypocalcemia	OMIM:602361
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Cerebral calcification, Microcephaly, Narrow mouth, Leukoencephalopathy, Long philtrum	OMIM:619147
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Bulbous nose, Flared nostrils, Dental malocclusion, Wide nasal bridge, ...	OMIM:616737
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Protruding tongue, Broad nasal ...	OMIM:619777
Tenorio Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Wide mouth, Macroglossia, Recurrent aphthous ...	OMIM:616260
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Prominent nasal bridge, Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of ...	OMIM:609944
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide nasal b...	ORPHA:96092
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Hypo...	OMIM:230600
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Reduced bone mineral density, Downturned corners ...	OMIM:259050
Maternal Phenylketonuria	Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, Microcepha...	ORPHA:2209
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat...	ORPHA:352540
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ...	ORPHA:2249
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
19Q13.11 Microdeletion Syndrome	Underdeveloped nasal alae, Microcephaly, Wide mouth, Thin vermilion border, Solitary median maxil...	ORPHA:217346
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft h...	ORPHA:3047
Peters Plus Syndrome	Micromelia, Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th finger, Spina ...	ORPHA:709
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Depressed nasal b...	ORPHA:1465
Frontonasal Dysplasia 3	Wide nasal bridge, Cleft palate, Underdeveloped nasal alae	OMIM:613456
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Chromosome 5Q12 Deletion Syndrome	Prominent nose, Micrognathia, Wide mouth, Macroglossia, Short philtrum, Long philtrum, Low hangin...	OMIM:615668
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Narrow mouth	ORPHA:436174
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Wide anter...	ORPHA:457279
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Periventricular white matter hypodensities, Abnormality...	ORPHA:171929
Igg4-Related Submandibular Gland Disease	Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,...	ORPHA:449432
Restrictive Dermopathy	Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Thoracic kyphoscoliosis, Multiple...	ORPHA:1662
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Partial agenesis of the corpus c...	OMIM:222448
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Chronic gastritis, Micrognathia, Prominent nose, Deep philtrum...	OMIM:150230
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Cleft lip, Clinodactyly, Long neck, Kyphosis, Cleft palate, Fused...	ORPHA:1724
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia	ORPHA:1765
Martin-Probst Syndrome	Microcephaly, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Wi...	OMIM:300519
Achondrogenesis Type 2	Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Short ribs, Micromelia	ORPHA:93296
Neurodevelopmental Disorder With Spasticity And Poor Growth	Tented upper lip vermilion, Anteverted nares, Reduced cerebral white matter volume, Prominent nos...	OMIM:618076
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, Cleft palate, High palate, Hyp...	OMIM:235255
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper li...	OMIM:164210
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Prominent nasal bridge, Micrognathia, Carious teeth, Broad...	OMIM:223370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyl...	OMIM:609945
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Anteverted nares, Craniosynostosis, Micrognathia, Cleft lip...	ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Dental crowding, Narrow palate, High palate, Thick vermilion...	OMIM:616078
Geleophysic Dysplasia 3	Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Short foot, Thick verm...	OMIM:617809
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Bowing of the legs	ORPHA:156728
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Thick vermilion border, High palate, Talipes ...	OMIM:618651
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, Broad nasal tip, 2-3 toe cu...	ORPHA:1596
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Camptodactyly, Micrognathia	OMIM:608257
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Gingival overgrowth, Decrease...	OMIM:259720
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Micrognathia, Thick lower lip vermilion, Narrow palate, Scoliosis, Long philtrum, Joint hypermobi...	ORPHA:555877
Distal Deletion 3P	Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Cleft p...	ORPHA:1620
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentiti...	OMIM:618505
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Myelomeningocele, Ost...	OMIM:607330
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Choanal atresia, Micrognathia, Microcephaly, Crypto...	OMIM:300712
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Epistaxis, Microcephaly, Bulbous nose, Tented philtrum, Thin vermilion border, Esophag...	ORPHA:495818
Autosomal Spastic Paraplegia Type 18	Wide mouth, Macroglossia, High palate, Short philtrum, Hypoplasia of the corpus callosum	ORPHA:209951
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Aganglionic megacolon, Prominent nasal bridge, Short nose	OMIM:613870
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Micrognathia, Cleft lip, Bulbou...	OMIM:301022
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Macrocephaly, Thick vermilion border, H...	OMIM:252160
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Microcephaly, Deep philtrum, Wide nasal...	ORPHA:251038
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow nasal ridge, Narrow mouth	OMIM:219150
H Syndrome	Hallux valgus, Recurrent fractures, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Gingiv...	ORPHA:168569
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Abnormality of the wrist, ...	ORPHA:198
Cardiofaciocutaneous Syndrome	Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Submucous clef...	ORPHA:1340
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
De Barsy Syndrome	Delayed eruption of teeth, Cerebellar vermis hypoplasia, Narrow mouth, Prominent nasolabial fold,...	ORPHA:2962
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, D...	OMIM:619127
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Microcephaly, High palate, Nar...	OMIM:618050
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly...	OMIM:614099
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Microcephaly, Esophageal atresia, Tracheoesophageal fistula, Cerebral atr...	OMIM:301030
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Mosaic Trisomy 9	Intestinal malrotation, Micromelia, Micrognathia, Rocker bottom foot, Camptodactyly of finger, Bu...	ORPHA:99776
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame...	OMIM:258315
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno...	ORPHA:769
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulu...	OMIM:616546
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Short metatarsal, Tibial bowing, Femoral bowing, Cli...	OMIM:223800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridg...	ORPHA:466950
Achondroplasia	Depressed nasal bridge, Anteverted nares, Rhizomelia, Bowing of the legs, Short proximal phalanx ...	ORPHA:15
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Abnormality of the dentition, Porencephalic cyst, Downturned corners of mouth, ...	OMIM:612394
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Wide mouth, Thick vermilion border, Macrocephaly	OMIM:611553
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Mend Syndrome	Thickened nuchal skin fold, Broad hallux, Overlapping toe, Prominent nasal bridge, Asymmetry of t...	ORPHA:401973
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Decreased response to g...	ORPHA:1855
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Mucopolysaccharidosis Type 4	Anteverted nares, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth,...	ORPHA:582
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ...	ORPHA:250999
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Tented upper lip vermilion, Megalencephaly, Wide mouth, Periventricular white matter hyperintensi...	ORPHA:500533
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Hypoplastic scapulae, Microcephaly, Hyp...	OMIM:607326
Naxos Disease	Cleft upper lip	ORPHA:34217
Fanconi Anemia, Complementation Group P	Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius, Cryptorchidism, ...	OMIM:613951
Bazex-Dupre-Christol Syndrome	Low hanging columella, Underdeveloped nasal alae, Narrow nasal ridge, Furrowed tongue	OMIM:301845
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Limited hip extension, Shoulde...	OMIM:617114
Pseudohypoparathyroidism Type 1A	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral densi...	ORPHA:79443
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognathia, Persistenc...	ORPHA:2785
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ...	ORPHA:85165
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Pancreatic cysts, Cleft palate, Clubbing ...	ORPHA:1318
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Hyperpho...	ORPHA:93325
Dend Syndrome	Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum	ORPHA:79134
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Arachnodactyly, Broad hallux, Prominent nasal bridge, Prominent nose, Co...	OMIM:601552
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Hypocalcemia	OMIM:606407
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Sandal gap, Anteverted nares, High, narrow palate, Submucous cleft hard...	OMIM:612863
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Prominent nasal bridge, Tapered finger, Abnormal toe morphology...	ORPHA:268261
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip vermilion, Open...	OMIM:616789
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Microcephaly, Diastema, Bulbous nose, Partial absence of cerebellar ver...	ORPHA:329224
Laron Syndrome	Limb undergrowth	OMIM:262500
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Deeah Syndrome	Malabsorption, Narrow palate, High palate, Short philtrum, Narrow mouth, Prominent nasal tip, Sho...	OMIM:619004
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Abnormal thumb morphology, Depre...	ORPHA:1842
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth	ORPHA:1231
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Abnormal cartilage morphology, Flared metaphysis, Abnormal ...	ORPHA:2347
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarth...	ORPHA:2044
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Glossitis, Hypocalcemia, Hypomagnesemia	OMIM:175500
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Non-midline cleft lip, Ane...	ORPHA:887
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Hypocalcemia	OMIM:601005
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Hammertoe, Tongue atrophy, Tongue fasciculations	OMIM:601596
Oligomeganephronia	Branchial cyst, Micrognathia	ORPHA:2260
Trisomy 20P	Anteverted nares, Abnormality of the dentition, Micrognathia, Downturned corners of mouth, Abnorm...	ORPHA:261318
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Microdontia, Joint ...	ORPHA:904
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Anteriorl...	OMIM:612289
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Intestinal malrotation, Broad hallux, Convex nasal ri...	ORPHA:353281
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Cleft upper lip, Postaxial hand polydactyly, Hemivertebrae, 2-3 ...	OMIM:264480
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Anteverted n...	ORPHA:261323
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, L...	OMIM:620369
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Abnormal facial skeleton morphology, Poste...	ORPHA:563612
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micromelia, Prominent nose, Micrognathia, Partial agenesis of the c...	OMIM:210710
Fg Syndrome Type 1	Dental crowding, Choanal atresia, Abnormal large intestine morphology, Prominent nose, Malrotatio...	ORPHA:93932
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Microcephaly, Rectal prolapse, Thick lower li...	OMIM:303600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cerebellar vermis hypoplasia, Anteverted nares, Choanal atresia, Micrognathia, Hypopl...	OMIM:616975
Pentalogy Of Cantrell	Encephalocele, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Anencephaly, Cleft p...	ORPHA:1335
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Micromelia, Microcephaly	ORPHA:2772
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Anteverted nares,...	OMIM:616503
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Clinodactyly, Microcephaly, S...	OMIM:616541
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Pfeiffer Syndrome Type 1	High palate, Short nose, Depressed nasal bridge	ORPHA:93258
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microcephaly, Cryptorchidism, Bulbous nose, Wide nasal brid...	ORPHA:250989
Pheochromocytoma	Hypercalcemia	OMIM:171300
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum...	OMIM:619435
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Warburg Micro Syndrome 2	Prominent nasal bridge, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, ...	OMIM:614225
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Depressed nasal bridge, Megalencephaly, Macrocephaly, Wide mouth, Long philt...	ORPHA:457485
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul...	ORPHA:247806
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, A...	ORPHA:474
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Small hand, Depressed nasal tip, Short foot, Wide nasal base, Retrognathia, Broa...	ORPHA:488434
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Hypoplasia of the co...	ORPHA:1272
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Anteverted nares, Hiatus hernia, Micrognathia, Narrow mouth, Bulbous nose, Flared nostrils, Thick...	OMIM:614756
Meckel Syndrome	Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Pa...	ORPHA:564
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Flexion...	ORPHA:435628
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Flexion...	OMIM:614098
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets, Epistaxis	OMIM:211600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Cerebral atroph...	OMIM:618797
Diamond-Blackfan Anemia 21	Microcephaly, Micrognathia, Narrow mouth	OMIM:620072
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Underdeveloped nasal alae, Microcephaly, Pyloric stenosis, Micrognathia...	ORPHA:83617
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Mi...	OMIM:301044
Richieri Costa-Da Silva Syndrome	Abnormality of the dentition, Narrow mouth	ORPHA:3101
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Short neck, Long fingers, Cleft palate, Thin vermili...	OMIM:614294
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microcephaly, Malabsorption, Triangular mouth, Short nose, Retrognathia	OMIM:601675
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Tapered finger, Broad nasal tip, S...	OMIM:619680
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H...	OMIM:309580
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Meckel Syndrome, Type 4	Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial hand polydactyly...	OMIM:611134
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert...	OMIM:613458
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth...	ORPHA:667
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly, Depressed n...	OMIM:613610
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Pr...	OMIM:619503
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short...	ORPHA:93260
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Dent Disease	Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c...	ORPHA:1652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr...	ORPHA:89842
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula,...	OMIM:607872
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli...	ORPHA:1848
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Microcephaly, Abnormal carpal morphology, Bilateral breast hypoplasia, Limb under...	ORPHA:319675
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Xerostomia	ORPHA:85443
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose, Microcephaly	ORPHA:2557
Monosomy 18Q	Mandibular prognathia, Depressed nasal bridge, Prominent nose, Microcephaly, Bulbous nose, Diffus...	ORPHA:1600
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Wide mouth, High...	OMIM:620224
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Fibular Hemimelia	Finger syndactyly, Toe syndactyly, Short femur, Abnormal morphology of ulna, Bowing of the legs, ...	ORPHA:93323
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Small hand, Cleft pa...	ORPHA:85276
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, A...	OMIM:615873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Micrognathia, Alveolar ridge overgrowth, High palate, Hypocalcemia, Hyp...	ORPHA:1655
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis	OMIM:620285
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol...	ORPHA:252164
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Microcephaly, Multinodular goiter, Multiple enchondromatosis, Hammertoe, Adenocarci...	OMIM:620189
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Cryptorchidism, Accessory carpal bones,...	ORPHA:503
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f...	OMIM:601358
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ...	OMIM:612284
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Cleft palate	ORPHA:3374
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary...	ORPHA:353277
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Humeroradial synost...	OMIM:134780
Chromosome 1P36 Deletion Syndrome, Proximal	Anteverted nares, Micrognathia, Bifid nasal tip, Cleft lip, Microcephaly, Cleft palate, High pala...	OMIM:619343
Lymphedema-Distichiasis Syndrome	Webbed neck, Cleft palate, Cleft upper lip	ORPHA:33001
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal...	ORPHA:96176
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Abnormality of the temporomandibular joint, Depressed nasal bridge, Ant...	ORPHA:536471
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofa...	ORPHA:60030
Coffin-Siris Syndrome 12	Micrognathia, High palate, Joint laxity, Anteverted nares, Depressed nasal bridge, Short thumb, R...	OMIM:619325
Juvenile Polyposis Of Infancy	Depressed nasal bridge, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Macr...	ORPHA:79076
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
Meier-Gorlin Syndrome 7	Anal stenosis, Choanal atresia, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Progress...	OMIM:617063
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb...	OMIM:619314
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Thin upper lip vermilion, Anteverted nares, Tracheomalacia, Micrognathia, Sm...	ORPHA:444077
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Broad nasal tip, Partial agenesis of the corpus callosum, Wide nasal bri...	OMIM:619480
Branchiootic Syndrome 3	Branchial cyst, Commissural lip pit	OMIM:608389
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Macroce...	ORPHA:252183
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Thick lower lip verm...	OMIM:230740
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Microcephaly, Tri...	ORPHA:2896
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Cryptorchidism, Humeroradi...	ORPHA:3404
X-Linked Intellectual Disability, Cabezas Type	Prominent nose, Open bite, Microcephaly, Thick lower lip vermilion, Wide mouth, High palate, Shor...	ORPHA:85293
Trisomy 8P	Short fourth metatarsal, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th finger, A...	ORPHA:264450
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Depressed nasal bridge, Leukoencephalopathy, Cerebral atrophy, Wide mouth, H...	OMIM:619260
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Microcephaly, Rectal ...	OMIM:617157
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin...	ORPHA:36234
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Hyperlordosis, Protruding tongue, Flexion contracture...	ORPHA:258
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Cryptorchidism, Dental malocclusion, Anos...	OMIM:603457
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Mandibular prognathia, Broad nasal tip, Wide nasal bridge, Gingival ov...	OMIM:135500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Cleft soft palate, Kyphoscoliosis, Talipes equinovarus, Umbilical hernia	OMIM:614557
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hypercalcemia, Flexion contracture, Osteoporosis, Thick lower lip vermi...	OMIM:194050
Muir-Torre Syndrome	Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Microcephaly, I...	ORPHA:457395
Multiple Endocrine Neoplasia Type 2	Joint laxity, Abnormal tongue morphology, Thick vermilion border, Hypercalcemia	ORPHA:653
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mout...	OMIM:611717
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge	OMIM:608688
Jansen-De Vries Syndrome	Wide mouth, Thin upper lip vermilion, Anteverted nares	OMIM:617450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cleft palate,...	OMIM:601776
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Micrognathia, Prominent nose, Gingival overgrowth, Macroglossia, High palate, Umbil...	ORPHA:96191
Fountain Syndrome	Craniofacial hyperostosis, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Everted lo...	ORPHA:3219
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Wide nasal ridge, Microcephal...	ORPHA:459070
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala...	ORPHA:64744
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Depressed nasal br...	OMIM:267000
Fibromuscular Dysplasia, Multifocal	Dental crowding, Joint hypermobility, Hiatus hernia, Micrognathia, High palate, Joint subluxation...	OMIM:619329
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Cerebral atrophy, Thick vermilion border, Hypoplasia of the corpus callosum, Macroc...	OMIM:252150
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Villous atrophy, Depressed nasal bridge, Underdevelo...	ORPHA:79328
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ...	OMIM:217100
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ...	ORPHA:3455
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Iniencephaly	Anencephaly, Orofacial cleft, Lissencephaly, Narrow mouth, Mandibular aplasia, Anal atresia, Dand...	ORPHA:63259
Cranioectodermal Dysplasia 1	Joint laxity, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, High palate, Hypocalc...	OMIM:218330
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Macrocephaly, Abnormal metaphysis morphology, Brachydactyly	ORPHA:2655
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Relative macrocephaly, Metaphyseal dysplasia, Radial bowing, Rhizomelia, Depressed nasal bridge, ...	OMIM:618019
Trichohepatoenteric Syndrome 1	Wide nose, Villous atrophy, Anteverted nares, Depressed nasal ridge, Wide mouth, Narrow mouth, Bi...	OMIM:222470
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali...	ORPHA:79078
Chops Syndrome	Anteverted nares, Microcephaly, High, narrow palate, Downturned corners of mouth, Long philtrum, ...	OMIM:616368
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Pyloric stenosis, Macroceph...	OMIM:147791
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Macrocephaly, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Prominent nasal bridge, Choanal atresia...	ORPHA:567
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb,...	OMIM:270400
Galloway-Mowat Syndrome 1	Narrow nasal ridge, Hiatus hernia, Prominent nose, Microcephaly, Micrognathia, Cerebral atrophy, ...	OMIM:251300
Noonan Syndrome 4	Depressed nasal bridge, Dental malocclusion, Wide mouth, Thick vermilion border, Macrocephaly	OMIM:610733
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot...	ORPHA:160
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate, Cleft upper lip	OMIM:615849
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Bulbous nose, Flared nostrils...	ORPHA:487796
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Wide mouth, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Polymicro...	ORPHA:60040
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Antev...	ORPHA:175
Charge Syndrome	Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the ulna, Cleft upper lip, Esophagea...	OMIM:214800
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge	ORPHA:1861
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis	ORPHA:72
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion	ORPHA:250977
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta...	ORPHA:85170
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Short metacarpal, Anteverted nares, Bowed humerus, Tarsal synostosis, Broad na...	OMIM:272460
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Pitt-Hopkins Syndrome	Microcephaly, Deep philtrum, Flared nostrils, Wide nasal bridge, Wide mouth, Widely spaced teeth,...	OMIM:610954
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog...	ORPHA:141099
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Foot joint contracture, ...	ORPHA:79408
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Gingival fibromatosis, Osteolysis, Increased susceptibility to fractures, Reduced ...	ORPHA:652
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Eosinophilic infiltration of the es...	OMIM:609192
Tetrasomy 9P	Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p...	ORPHA:3310
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Wide nasal bri...	OMIM:614083
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Narrow mouth, Anal ...	OMIM:617666
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Flexion contracture, Depressed nasal ridge, Single naris, Cleft pala...	ORPHA:93924
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, 2-3 toe syndactyly, High palate, Mesomelia, Clinodactyly of the 5t...	OMIM:618162
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Micrognathia...	OMIM:618820
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced...	ORPHA:199
Wiedemann-Rautenstrauch Syndrome	Smooth philtrum, Natal tooth, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares...	OMIM:264090
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ...	ORPHA:1519
Glucagonoma	Stomatitis, Glossitis, Hypercalcemia	ORPHA:97280
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Acromesomel...	ORPHA:968
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Oculo-Palato-Cerebral Syndrome	Microcephaly, High, narrow palate, Small hand, Cleft palate, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2714
Cystinosis	Rickets, Malabsorption	ORPHA:213
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge	OMIM:300661
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Depressed nasal ridge, Abnormality of mouth shape, Increas...	ORPHA:3003
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa valga, Abnormal zygomat...	ORPHA:3342
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Split hand, Femoral bo...	ORPHA:1860
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Tapered finger, Short uvula, Submucous ...	OMIM:619539
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia	OMIM:180920
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Tented upper lip vermilion, Microcephaly, Micrognathia, Triangular ...	OMIM:618460
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Microcephaly, Downturned corne...	OMIM:619321
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Esophageal va...	OMIM:301068
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent upper respiratory tract infection...	OMIM:253010
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Depressed nasal bridge, Megalencephaly, Tibial bowing, Femoral bowing, Macrocephaly, ...	OMIM:616482
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Spinal dysraphism, Bifid uvula, Butterfly ver...	OMIM:617660
Cantú Syndrome	Anteverted nares, Wide nasal bridge, Macrocephaly, Wide mouth, Thick vermilion border, Long philtrum	ORPHA:1517
Opsismodysplasia	Short nose, Depressed nasal bridge, Macrocephaly	ORPHA:2746
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short philtrum, Hypocalcemia	OMIM:607143
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of...	OMIM:613795
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Protruding tongue,...	OMIM:213300
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Bifid nose, Median cleft lip and palate	ORPHA:2213
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Anteriorly placed anus, Short upper ...	OMIM:200110
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607765
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Secondary microceph...	OMIM:620352
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Short phalanx of finger...	OMIM:600092
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni...	OMIM:619488
Osteogenesis Imperfecta, Type Vii	Death in infancy, Rhizomelia, Micromelia, Bowing of the legs, Femoral retroversion, Coxa vara, Lo...	OMIM:610682
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Microphthalmia, Syndromic 6	Micrognathia, High palate, Clinodactyly of the 5th finger, Bifid uvula, Finger syndactyly, Crypto...	OMIM:607932
Thoracoabdominal Syndrome	Cystic hygroma, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Macrocephaly, Short nose, Long philtrum	OMIM:258480
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent upper respiratory tract infection...	OMIM:253000
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Kyphosis, Ankle clonus, Tongue fasciculations, Scoliosis, Death in childhood	OMIM:211530
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia, Micrognathia, Protrud...	ORPHA:98889
Ppoma	Hypercalcemia	ORPHA:97278
Warsaw Breakage Syndrome	Wide mouth, High palate, Microcephaly	OMIM:613398
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Microcephaly, Wide nasal bridge, High palate, Long philtrum, Short nose...	ORPHA:319182
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Igg4-Related Ophthalmic Disease	Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Abnormality...	ORPHA:449563
Intellectual Developmental Disorder, Autosomal Dominant 68	Microcephaly, Bulbous nose, Wide mouth, High palate, Retrognathia	OMIM:619934
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Rickets, Steatorrhea	ORPHA:79303
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova...	ORPHA:2298
Scheie Syndrome	Wide mouth, Thick vermilion border, Rhinitis, Everted lower lip vermilion	ORPHA:93474
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Ogden Syndrome	Micrognathia, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion, Microretrogn...	OMIM:300855
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid...	ORPHA:2729
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Microdontia, Thick vermilion border, Widely spaced teeth, Narrow mouth	ORPHA:324540
Somatostatinoma	Hypercalcemia	ORPHA:97283
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Anteriorly placed anu...	ORPHA:95699
Bilateral Polymicrogyria	4-layered lissencephaly, Micrognathia, Aplasia/Hypoplasia of the cerebral white matter, Perisylvi...	ORPHA:268940
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Split hand, Clubbing, Cleft palate, Death in childhood	OMIM:600460
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Amed Syndrome, Digenic	Hypoplasia of the uterus, Bone marrow hypocellularity	OMIM:619151
Sotos Syndrome	Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Abnorm...	ORPHA:821
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Convex nasal ridge, M...	ORPHA:79474
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Grfoma	Hypercalcemia	ORPHA:97261
Pallister-Hall Syndrome	Depressed nasal ridge, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydac...	ORPHA:672
Isotretinoin-Like Syndrome	Hypocalcemia, Cleft palate, Micrognathia	ORPHA:2306
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Mesomelic Dysplasia, Savarirayan Type	Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia	OMIM:605274
Multiple Osteochondromas	Deformed radius, Intestinal obstruction, Short metacarpal, Bowing of the long bones, Abnormal mor...	ORPHA:321
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Optic nerve hypopl...	OMIM:620330
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum	OMIM:614185
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis, Cerebral cortica...	ORPHA:37
Jacobsen Syndrome	Anteverted nares, Intestinal malrotation, Pyloric stenosis, Wide nasal bridge, Cerebral atrophy, ...	ORPHA:2308
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide nose, Short lingual frenulum, Broad nasal tip, Asymmetry of the nares, Wide mouth, Midline n...	ORPHA:1521
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Geleophysic Dysplasia 1	Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:231050
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Deep philtrum, Wide mouth, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:617260
Scleromyxedema	Narrow mouth	ORPHA:167635
Transaldolase Deficiency	Depressed nasal bridge, Deep philtrum, Wide mouth, Thin vermilion border, Short philtrum	OMIM:606003
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Holoprosencephaly 14	Median cleft lip, Anteverted nares, Absent septum pellucidum, Proboscis, Microcephaly, Cleft lip,...	OMIM:619895
Aspartylglucosaminuria	Mandibular prognathia, Abnormality of the dentition, Carious teeth, Malabsorption, Wide nasal bri...	ORPHA:93
Osteogenesis Imperfecta, Type Ii	Limb undergrowth, Convex nasal ridge, Tibial bowing	OMIM:166210
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Micromelia, Microcephaly, Short phalanx of finger, Cerebral hypoplasia	ORPHA:1422
Sarcoidosis	Enlargement of parotid gland, Bone cyst, Hypercalcemia, Parotitis	ORPHA:797
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Broad nasal tip, Micrognathia, Abnormality of t...	ORPHA:798
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D...	ORPHA:37042
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d...	OMIM:619656
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Hereditary Folate Malabsorption	Cerebral calcification, Glossitis, Cheilitis	ORPHA:90045
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Reduced cerebral white matter volume, Cleft li...	OMIM:280000
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Absent septum pellucidum, Macrocephaly, Short nose, Agen...	ORPHA:3339
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing	OMIM:608728
Becker Nevus Syndrome	Abnormal tibia morphology, Supernumerary nipple, Micromelia	ORPHA:64755
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth	OMIM:616083
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Down Syndrome	Thickened nuchal skin fold, Joint laxity, Redundant neck skin, Aganglionic megacolon, Sandal gap,...	OMIM:190685
Oculocerebrocutaneous Syndrome	Orofacial cleft, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Cerebellar hypoplasia, Po...	ORPHA:1647
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Flared metaphysis, Limb undergrowth, Fibular overgrowth...	ORPHA:93352
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Microcephaly, Bulbous nose, Cerebral atrophy, Downturned corners of mouth, Macro...	OMIM:618268
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Short philtrum, High palate, Absent...	OMIM:216340
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Noonan Syndrome 14	Prominent nasal bridge, High, narrow palate, Wide mouth, Prominent nasolabial fold, Thick vermili...	OMIM:619745
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Clubbing, Enlarged lacrimal glands, Abnormal salivary gland ...	OMIM:181000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Coach Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Esop...	OMIM:216360
1P36 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Narrow mouth, Pyloric stenosis, Depressed nasal ridge, Wide...	ORPHA:1606
Juvenile Sialidosis Type 2	Umbilical hernia, Gingival overgrowth, Abnormal form of the vertebral bodies, Protruding tongue	ORPHA:93399
Systemic Sclerosis	Abnormal small intestine morphology, Barrett esophagus, Abnormal large intestine morphology, Abno...	ORPHA:90291
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Macr...	OMIM:269150
Congenital Sialidosis Type 2	Macrocephaly, Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Mucopolysaccharidosis, Type Iiid	Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Recurrent upper respiratory ...	OMIM:252940
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Microcephaly, Thin corpus callosum, Protruding tongue	OMIM:619580
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Hemiballismus, Prominent nasal tip, Short nose, Smooth philtrum	ORPHA:522077
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Microcephaly, Wide nas...	OMIM:619522
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Cleft palate, Short philtrum, ...	ORPHA:163979
Juvenile Polyposis Syndrome	Spontaneous, recurrent epistaxis, Small intestinal polyposis, Juvenile gastrointestinal polyposis...	ORPHA:2929
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger, Scoliosis	ORPHA:101085
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Flexion contracture, Ankle clonus, Talipes valgus, Narrow nose	OMIM:618891
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Giant Cell Arteritis	Epistaxis, Joint stiffness, Recurrent pharyngitis, Arthritis, Glossitis	ORPHA:397
Cowden Syndrome	Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorec...	ORPHA:201
Fanconi-Bickel Syndrome	Rickets, Osteomalacia, Malabsorption	OMIM:227810
Cardiofaciocutaneous Syndrome 3	Wide mouth	OMIM:615279
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Digeorge Syndrome	Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recurrent sinusitis...	OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Microcephaly, Thick corpus callosum, Wide mouth, Macrocephaly, Hyperinten...	OMIM:617798
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Microcephaly, Micrognathia, Wide nasal bridge, W...	OMIM:266920
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachydactyly	OMIM:100300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Narrow mouth, Microcephaly, Prominent nose	OMIM:614748
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Malabsorption, Narrow mouth	OMIM:616539
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Noonan Syndrome 3	High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Relative macrocephaly, Dental crowding, Prominent ...	ORPHA:466791
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Esophageal varix, Osteoporosis, Hyposmia, Chon...	OMIM:277900
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Narrow nasal tip, Prominent nasal bridge, Arachnodactyly, Anterior...	ORPHA:464306
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy, Kyphoscoliosis, Scoliosis	ORPHA:99956
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Colitis, Steatorrhea	ORPHA:309031
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Peroxisome Biogenesis Disorder 4B	Short nose, Macrocephaly	OMIM:614863
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Underdeveloped nasal alae,...	ORPHA:163956
Coffin-Siris Syndrome 1	Conical tooth, Partial agenesis of the corpus callosum, Short philtrum, High palate, Microdontia,...	OMIM:135900
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Blau Syndrome	Abnormal salivary gland morphology, Xerostomia, Camptodactyly of finger	ORPHA:90340
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Anteverted nares, Microcephaly, High, narrow palate, Bulbous nose, Shor...	OMIM:619475
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Cleft palate, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Igg4-Related Kidney Disease	Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis	ORPHA:449395
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Short nose, Cerebral calcification, Thick vermilion border	ORPHA:505248
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hypoplasia of the...	OMIM:200995
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridg...	ORPHA:466943
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Hammertoe, Tongue fasciculations, Scoliosis, Difficulty in tongue movements	ORPHA:99949
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth	OMIM:606721
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Median cleft lip an...	ORPHA:699
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth	OMIM:251800
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Epididymitis, Prostatitis	OMIM:300755
Mucolipidosis Ii Alpha/Beta	Depressed nasal bridge, Anteverted nares, Micrognathia, Gingival overgrowth, Wide mouth, Macroglo...	OMIM:252500
Vascular Ehlers-Danlos Syndrome	Narrow nasal bridge, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth...	ORPHA:286
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Micrognathia, I...	OMIM:619991
Diets-Jongmans Syndrome	Thin upper lip vermilion, Broad nasal tip, Thick corpus callosum, Wide mouth, Duodenal atresia, L...	OMIM:618846
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Microcephaly, Abnormal cerebral white matter morphology, Congenital finger flexio...	ORPHA:466768
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Oral ulcer, Arthritis, J...	OMIM:619381
Floating-Harbor Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Cari...	OMIM:136140
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Eosinophilia, Furrowed tongue	OMIM:158310
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Gitelman Syndrome	Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Cerebral atrophy, Leukoencephalopathy, Periventricular white matter hyperintensitie...	ORPHA:79282
Mosaic Trisomy 16	Abnormality of the nose, Wide mouth, Anteriorly placed anus, Craniofacial asymmetry, Meckel diver...	ORPHA:1708
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Depressed nasal br...	OMIM:601803
Aspartylglucosaminuria	Depressed nasal bridge, Anteverted nares, Microcephaly, Thick lower lip vermilion, Hypoplastic fr...	OMIM:208400
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density	ORPHA:18
Microsporidiosis	Rhinitis, Sinusitis, Glossitis, Osteomyelitis	ORPHA:2552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme...	OMIM:203500
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Cerebral cortical atrophy	ORPHA:468699
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Sinusitis	ORPHA:83471
Choreoacanthocytosis	Arthritis, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Kawasaki Disease	Recurrent pharyngitis, Glossitis, Cheilitis, Arthritis	ORPHA:2331
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonada...	OMIM:618419
Carney Complex	Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Neoplasm of the rectu...	ORPHA:1359
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus...	OMIM:618280
Cystinosis, Nephropathic	Hypophosphatemic rickets, Metaphyseal widening, Rickets, Genu valgum	OMIM:219800
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Depressed nasal ridge, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphol...	ORPHA:95494
Johanson-Blizzard Syndrome	Joint laxity, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Agenesis o...	OMIM:243800
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Cardiospondylocarpofacial Syndrome	Anteverted nares, Bulbous nose, Wide nasal bridge, Hypoplastic nasal tip, Wide mouth, Long philtrum	OMIM:157800
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia	ORPHA:49
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcifi...	ORPHA:51608
Arima Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Esophageal varix, Wide mouth, Hypopl...	OMIM:243910
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest...	ORPHA:707
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens	OMIM:137920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Anteverted nares, ...	ORPHA:79318
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Norrie Disease	Cryptorchidism, Uterine rupture	ORPHA:649

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 Satb2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Satb2.

There are 10 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Chromatin Reorganization during Myoblast Differentiation Involves the Caspase-Dependent Removal of SATB2.	Cells (March 2022)	Satb2^{tm1c(KOMP)Wtsi}	PMC8946544
Satb2 regulates the development of dopaminergic neurons in the arcuate nucleus by Dlx1.	Cell death & disease (September 2021)	Satb2^{tm1c(KOMP)Wtsi}	PMC8464595
Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map.	Nature neuroscience (March 2020)	Satb2^{tm1c(KOMP)Wtsi}	32203496
Satb2 is required for the regionalization of retrosplenial cortex.	Cell death and differentiation (October 2019)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC7206047
Loss of Satb2 in the Cortex and Hippocampus Leads to Abnormal Behaviors in Mice.	Frontiers in molecular neuroscience (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6380165
Genes encoding SATB2-interacting proteins in adult cerebral cortex contribute to human cognitive ability.	PLoS genetics (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6364870
Satb2 ablation decreases PTZ-induced seizure susceptibility and pyramidal neuronal excitability.	Brain research (May 2018)	Satb2^{tm1c(KOMP)Wtsi}	29750936
Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity.	Molecular neurobiology (April 2017)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	28421537
Satb2 determines miRNA expression and long-term memory in the adult central nervous system.	eLife (November 2016)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC5207769
Mutual regulation between Satb2 and Fezf2 promotes subcerebral projection neuron identity in the developing cerebral cortex.	Proceedings of the National Academy of Sciences of the United States of America (August 2015)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC4577201

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MGI Allele	Allele Type	Produced
Satb2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm41799(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Satb2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Satb2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Satb2^em3(IMPC)Tcp	Indel	Mice, Tissue
Satb2^em2(IMPC)Mbp	Indel	Mice
Satb2^{tm41799(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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Gene: Satb2 MGI:2679336

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