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Gene: Spry2 MGI:1345138

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sprouty RTK signaling antagonist 2
Synonyms:
sprouty2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Spry2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Spry2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iga Nephropathy, Susceptibility To, 3
OMIM:616818

The table below shows human diseases predicted to be associated to Spry2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti... OMIM:155050
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala... OMIM:190351
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... ORPHA:388
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Pyle Disease
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... OMIM:265900
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A... ORPHA:2015
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... OMIM:144750
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Bulbous no... ORPHA:1787
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Microcephaly, Carious teeth, Abnormality of the dentition ORPHA:1094
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle... OMIM:608545
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... ORPHA:61
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... ORPHA:77258
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te... OMIM:620099
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Relative macrocephaly, Anteverted nares, Tapered finger, Long fingers, Den... OMIM:618292
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Kyphoscoliosis, Prominent nose, Microcephaly, Dental malocclusion OMIM:615541
Zimmermann-Laband Syndrome
Hallux valgus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose, Gingival f... ORPHA:3473
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Mcdonough Syndrome
Mandibular prognathia, Micrognathia, Open bite, Kyphosis, Prominent nose, Underdeveloped nasal al... ORPHA:2471
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of ... ORPHA:502
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, Microce... ORPHA:217340
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Sacral dimple, Toe syndactyly, Anteverted nares, Camptodact... ORPHA:1327
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Convex nasal ridge, Micrognathia, Carious teeth... OMIM:613684
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Kyphosco... ORPHA:2980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo... OMIM:156510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b... ORPHA:163649
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dental malocclus... OMIM:608940
Hall-Riggs Syndrome
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Ky... OMIM:234250
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... OMIM:119600
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... ORPHA:2919
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami OMIM:141300
Craniosynostosis 3
Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ... OMIM:615314
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... OMIM:614669
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon... ORPHA:71267
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi... OMIM:619719
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... OMIM:269300
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Craniosyno... ORPHA:1515
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Orofaciodigital Syndrome Iii
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxia... OMIM:258850
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ... ORPHA:3079
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Con... ORPHA:897
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... OMIM:616331
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxi... ORPHA:3098
Non-Distal Duplication 10Q
Depressed nasal bridge, Microcephaly, Micrognathia, Cryptorchidism, Joint hyperflexibility, Evert... ORPHA:1695
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Three M Syndrome 2
Delayed eruption of teeth, Relative macrocephaly, Prominent nasal tip, Lumbar hyperlordosis, Ante... OMIM:612921
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr... ORPHA:627
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... OMIM:616583
Odontochondrodysplasia 1
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Ost... OMIM:184260
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Short neck, Microcephaly, Depressed nasal ridge, Gingival fibroma... ORPHA:1832
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha... ORPHA:166272
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly ORPHA:1264
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste... OMIM:619718
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... ORPHA:3145
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick low... OMIM:617412
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... OMIM:613849
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ... OMIM:184840
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... OMIM:619752
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen... OMIM:210600
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi... ORPHA:251028
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion, Malar flatten... ORPHA:436245
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Microcephaly, Dental malocclusion, Wide mou... OMIM:610883
Harrod Syndrome
Arachnodactyly, Microcephaly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal ... ORPHA:2115
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... ORPHA:3104
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... ORPHA:1507
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Mandibular prognathia, Beaking of vertebral bodies, Genu recurvatum, C... ORPHA:137834
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge OMIM:600252
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b... ORPHA:2025
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... OMIM:234100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... ORPHA:2429
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... OMIM:604757
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Tapered fin... OMIM:618825
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... OMIM:602483
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Schwartz-Jampel Syndrome
Micrognathia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increas... ORPHA:800
Atelosteogenesis, Type Ii
Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space, Lumbar hyperlordosis... OMIM:256050
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... OMIM:610967
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Anteverted nares, Short toe, P... OMIM:617877
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... ORPHA:63442
Pycnodysostosis
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Persisten... OMIM:265800
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Autosomal Dominant Robinow Syndrome
Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va... ORPHA:3107
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase... OMIM:618761
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... ORPHA:2370
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A... ORPHA:90653
Mulibrey Nanism
Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Enamel hypoplasia, Hy... OMIM:253250
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... OMIM:249420
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo... OMIM:619293
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth, Underdeveloped nasal alae OMIM:616108
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion OMIM:608931
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Microcephaly, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose ORPHA:2598
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... ORPHA:329178
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Microcephaly, Pro... ORPHA:2107
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal ridge, Abnorm... ORPHA:950
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Bifid uvula, Long philtrum, Joint laxity, Anteverted nares, Wide anterio... OMIM:607812
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Radial deviation of th... ORPHA:1388
Duplication Of The Pituitary Gland
Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Short ne... ORPHA:314621
49,Xxxxy Syndrome
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Depress... ORPHA:96264
Trisomy 4P
Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, C... ORPHA:1738
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... ORPHA:83450
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
48,Xxxy Syndrome
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Abnorma... ORPHA:96263
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation, Short-segment aganglionic megacolon OMIM:619465
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... ORPHA:819
Monosomy 5P
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Microcephaly, Small hand, ... ORPHA:281
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... OMIM:112350
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Myopathy, Myofibrillar, 8
Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dental malocclus... OMIM:617258
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... ORPHA:916
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Vertebral seg... ORPHA:2631
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Osteoglosphonic Dysplasia
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form ... ORPHA:2645
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Momo Syndrome
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo... ORPHA:2563
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri... OMIM:268400
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... OMIM:620269
Snijders Blok-Campeau Syndrome
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, S... OMIM:618205
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... OMIM:182212
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Microcephaly, Hypoplas... ORPHA:85172
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar... ORPHA:2780
Momo Syndrome
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal... OMIM:157980
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... OMIM:601957
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... ORPHA:915
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2-3 finger syndact... OMIM:269500
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... OMIM:300577
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... ORPHA:1782
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Relative macrocephaly, Dental crowding, Anteverted nares, Kyphoscolios... OMIM:616354
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... OMIM:164200
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Anteverted nares, Tapered finger... OMIM:300602
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... ORPHA:319195
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... ORPHA:2863
Distal Deletion 12Q
Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r... ORPHA:96149
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Micrognathia, Shor... OMIM:613544
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting ORPHA:543
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... OMIM:257850
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Micr... OMIM:619489
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Narrow mouth, Deep... ORPHA:261120
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,... ORPHA:1716
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the ... ORPHA:263463
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscolios... OMIM:618853
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou... ORPHA:969
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... ORPHA:3353
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Faciocardiomelic Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Cuboid-shaped v... OMIM:612731
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612463
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth... OMIM:601216
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Hyperlordosis, Depressed nasal... ORPHA:2831
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... ORPHA:2710
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... OMIM:616894
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Joint laxity, Anteverted nares, Short... OMIM:615583
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Pierpont Syndrome
Wide nose, Short neck, Microcephaly, Broad nasal tip, Short toe, Short nose, Cryptorchidism, Shor... OMIM:602342
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Coffin-Siris Syndrome 3
Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Short distal pha... OMIM:614608
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Anteverted nares, Abnormal dental en... ORPHA:582
Fanconi Anemia, Complementation Group S
Macrodontia, Anteverted nares, Proximal placement of thumb, Microcephaly, Prominent nasal bridge,... OMIM:617883
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... OMIM:619797
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,... OMIM:218400
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate, Scoliosis, Arthrogryposis multiplex congenita OMIM:615731
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co... ORPHA:69087
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Pla... ORPHA:250984
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Carious teeth, Microgn... OMIM:214150
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... ORPHA:949
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Unilamb... OMIM:618577
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Microcephaly, Wide mouth, Delayed ... OMIM:618506
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet... OMIM:102500
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... ORPHA:420561
Microcephalic Primordial Dwarfism, Montreal Type
Micrognathia, Open bite, Carious teeth, Kyphosis, Microcephaly, Cryptorchidism, Congenital pylori... ORPHA:2617
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High ... OMIM:147060
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Tracheomalacia, Abnormality of the dentition, Micrognathia, High, n... ORPHA:2108
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty... ORPHA:2920
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Depressed nasal bridge, Kyphoscoliosis, M... OMIM:215100
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Macrocephaly, Malar flattening, Open mouth, Retrognathia, Short nose OMIM:613670
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Fla... OMIM:146000
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Short neck, Metatarsus adductus, Microcephaly, C... OMIM:123450
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvaria... OMIM:259440
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Prominent nose, Carious teeth, ... OMIM:203550
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, ... ORPHA:1988
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Prominent nose, Radioulnar s... ORPHA:3270
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Proximal placement of thumb, Micrognathia, Short neck, Wide nasal bridg... ORPHA:93267
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma... ORPHA:50814
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p... OMIM:614524
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Cerebellofaciodental Syndrome
Tapered finger, Short neck, Microcephaly, Cryptorchidism, Dental malocclusion, Shortening of all ... OMIM:616202
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... OMIM:614753
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... OMIM:616580
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Short neck, Hypoplasia of the maxilla, Increased bone minera... ORPHA:1798
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog... ORPHA:2909
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... OMIM:271510
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Micrognathia, Congenital contracture, Secondary microcephaly, High pala... OMIM:615042
Greenberg Dysplasia
Abnormally ossified vertebrae, Micrognathia, Abnormal pelvis bone ossification, Anterior rib punc... ORPHA:1426
Diastrophic Dysplasia
Joint dislocation, Proximal placement of thumb, Micrognathia, Symphalangism affecting the phalang... ORPHA:628
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Wide nasal bridge, Clinodact... OMIM:619149
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Cryptorchidism, Deep ph... ORPHA:2701
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Cranioectodermal Dysplasia 4
Anteverted nares, Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger... OMIM:614378
Beaulieu-Boycott-Innes Syndrome
Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Long nose, Dental malocc... OMIM:613680
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... ORPHA:90650
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Achondrogenesis
Anteverted nares, Short neck, Micrognathia, Abnormal enchondral ossification, Macrocephaly, Abnor... ORPHA:932
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... ORPHA:2484
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... ORPHA:94068
Peho-Like Syndrome
Tapered finger, Progressive microcephaly, Open mouth, Retrognathia, Short nose OMIM:617507
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Micrognathia, Microcephaly, Cryptorchidism, Wide mouth, J... OMIM:615419
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Abnormality of the nose, Carious teeth, Joint hyperflexibility, Scoliosis... ORPHA:1390
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Cleft palate, Bowing of the arm, Retro... OMIM:249710
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion... ORPHA:363444
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Depressed nasal bridg... OMIM:108721
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Brachydactyly, Thoracic scoliosis, Multiple joint contractures, Selective tooth agene... ORPHA:2959
Achondrogenesis Type 1A
Short palm, Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification... ORPHA:93299
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Ante... OMIM:611174
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Micrognathia, Elbow dislocation, ... OMIM:264180
Taurodontism
Taurodontia OMIM:272700
Mucolipidosis Type Iii
Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Cleft palate, Reduced bone mineral den... ORPHA:577
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Pyloric stenosis, Cryptorchidism, Flexion contracture, Dental malocclusion, Slend... OMIM:310400
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Microcephaly, Carious teeth, Wide anterior fontanel... OMIM:219200
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas... ORPHA:1133
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... OMIM:136300
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction, Abnormality of the dentition ORPHA:2380
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Bip... ORPHA:818
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M... OMIM:227330
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lo... OMIM:102370
Achondrogenesis Type 1B
Anteverted nares, Micrognathia, Short neck, Abnormal enchondral ossification, Macrocephaly, Short... ORPHA:93298
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... ORPHA:192
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia OMIM:606764
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Anteverted nares, Depressed nasal bridge, Tapered finger, Supernumerary tooth, Thin vermilion bor... ORPHA:86818
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge... ORPHA:2616
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ... ORPHA:884
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Thin vermilion bor... OMIM:617991
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate OMIM:217150
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... OMIM:618727
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Microcephaly, Micrognathia, Narrow mouth, Short nose, Abnormal palate mo... ORPHA:1495
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... OMIM:614008
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Cryptorchidism... OMIM:614613
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, ... OMIM:620250
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Wide nose, Sandal gap, Anteverted nares, Depressed nasal bridge, Micro... OMIM:614607
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, Microcephaly, Thic... OMIM:618342
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Sho... OMIM:614188
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Microcephaly, Narrow mouth, Short nose, Delayed eruption of perma... OMIM:619356
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Microcephaly, Kyphosis, Non-midline cleft lip, Abnorm... ORPHA:236
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... ORPHA:391408
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Microgna... OMIM:616897
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... ORPHA:2769
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Joint stiffness, Non-midl... ORPHA:1915
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft ver... OMIM:118651
Anonychia With Flexural Pigmentation
Carious teeth, Convex nasal ridge ORPHA:69125
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... OMIM:126550
Seckel Syndrome 5
Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Cle... OMIM:613823
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Foot joint contracture, Tapered finger, Micrognathia, Short neck, Microcephaly,... ORPHA:444072
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Cryptorch... OMIM:616737
Laron Syndrome
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... ORPHA:633
Acrofacial Dysostosis, Catania Type
Microcephaly, Carious teeth, Cryptorchidism, Short palm, Spina bifida occulta OMIM:101805
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... ORPHA:2347
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
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta ORPHA:1514
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n... ORPHA:163966
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... OMIM:226300
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe... ORPHA:3238
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula ORPHA:2591
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teeth, Microcephaly, ... ORPHA:1786
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... ORPHA:3258
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Kabuki Syndrome 2
Joint laxity, Natal tooth, Micrognathia, Microcephaly, Broad nasal tip, Lower lip pit, Hip disloc... OMIM:300867
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Micrognathia, Short neck, Meta... OMIM:255800
Trigonocephaly 1
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Met... OMIM:190440
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, Microcephaly, Underdevelo... OMIM:263210
Perlman Syndrome
Anteverted nares, Micrognathia, High, narrow palate, Cryptorchidism, Short nose, Wide nasal bridg... ORPHA:2849
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... ORPHA:434179
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Micrognathia, Microcephaly, Cryptorchidism, Thick lower lip vermili... ORPHA:85321
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Depressed nasal bri... ORPHA:1830
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Rapp-Hodgkin Syndrome
Syndactyly, Depressed nasal bridge, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutane... OMIM:129400
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress... OMIM:108300
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb... OMIM:607095
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita OMIM:616570
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Microcephaly, Long philtrum,... ORPHA:46
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Noonan Syndrome 4
Depressed nasal bridge, Short neck, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermil... OMIM:610733
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept... OMIM:303600
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... OMIM:259420
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly... OMIM:616294
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... OMIM:300166
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft p... ORPHA:376
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... OMIM:206920
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig... OMIM:115150
Dental Ankylosis
Clinodactyly of the 5th finger, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel mor... ORPHA:1077
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ... OMIM:231070
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... ORPHA:2136
Mosaic Trisomy 14
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short neck, Cryp... ORPHA:1703
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:277440
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
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... OMIM:305400
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeveloped nasal alae, Wide... ORPHA:90024
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short p... OMIM:611717
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Microcephaly, Cryptorchidism, Joint stiffness, Cleft palate, Tooth agenesis, Verteb... ORPHA:1166
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... OMIM:300882
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral ... OMIM:166220
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... OMIM:217980
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly OMIM:613382
Phelan-Mcdermid Syndrome
Sacral dimple, Micrognathia, Microcephaly, Bulbous nose, Dental malocclusion, 2-3 toe syndactyly,... OMIM:606232
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif... OMIM:615777
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Micrognathia, Underdeveloped nasal a... OMIM:269880
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Relative macrocephaly, Joint laxity, Lumbar hyperlordosis, Short neck, Met... OMIM:612813
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... OMIM:617088
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Macroglossia, Wormi... OMIM:614450
Ohdo Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal ... OMIM:249620
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... ORPHA:2409
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis, Malar flattening ORPHA:85174
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... ORPHA:88630
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Tapered finger, ... OMIM:272430
Pallister-Hall-Like Syndrome
Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micrognathia, Microcephaly, Postaxial h... OMIM:241800
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... OMIM:600325
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... ORPHA:3019
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognat... ORPHA:166108
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Clinodactyly of the 5th ... OMIM:617061
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nare... ORPHA:251019
Geroderma Osteodysplastica
Mandibular prognathia, Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteopo... ORPHA:2078
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the... ORPHA:217385
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... ORPHA:261144
Temple Syndrome
Relative macrocephaly, Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal br... OMIM:616222
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Sh... OMIM:613604
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Abn... ORPHA:666
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Short neck, Wide dist... OMIM:613320
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Oculoauriculofrontonasal Syndrome
Wide nose, Micrognathia, Microcephaly, Cleft lip, Underdeveloped nasal alae, Bifid nasal tip, Cle... ORPHA:398156
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Hypopla... OMIM:607326
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Prominent nasal bridge, Joint hypermobility, Microcephaly, Long nose, Joint stif... OMIM:619184
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... OMIM:617201
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Abnorma... ORPHA:2635
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis ORPHA:85317
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Short toe, Cone-shaped epiphyses of the phalanges of the hand... OMIM:619269
Isotretinoin Syndrome
Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bi... ORPHA:2305
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ... ORPHA:181
Malignant Peritoneal Mesothelioma
Abdominal distention, Peritonitis, Ileus, Abdominal pain ORPHA:168811
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... ORPHA:343
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... OMIM:618150
Spermatogenic Failure 81
Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia OMIM:620277
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Fetal Trimethadione Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, High palate, Scoliosis, Short nose ORPHA:1913
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J... ORPHA:353281
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Cleft palate, Malar flattening, Sh... ORPHA:2145
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Microcephaly, Kyph... ORPHA:3121
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short... OMIM:103580
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi... OMIM:301014
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor... OMIM:313420
Even-Plus Syndrome
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... OMIM:616854
C Syndrome
Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Anteverted nar... OMIM:211750
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Microcephaly, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, A... OMIM:239800
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Scoliosis, Short nose OMIM:618379
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Microcephaly, Broad nasal tip, Cleft lip, Cleft palate, Thoracic kyphosis OMIM:300263
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho... OMIM:615222
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Non-Distal Duplication 13Q
Arachnodactyly, Abnormality of the dentition, Micrognathia, Microcephaly, Postaxial hand polydact... ORPHA:1702
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary tooth, Scol... ORPHA:268261
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Microcephaly, De... OMIM:617752
Filippi Syndrome
Microcephaly, 2-4 toe syndactyly, Underdeveloped nasal alae, Low hanging columella, Cryptorchidis... OMIM:272440
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Short nose,... ORPHA:391372
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... OMIM:609324
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Depressed nasal ridge, Hypodontia ORPHA:1816
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... OMIM:608022
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the dentition, Celiac d... ORPHA:576283
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic... OMIM:618961
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S... OMIM:600373
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Pterygium, Anteverted nares, Craniosynostosis, Micrognathia, E... ORPHA:93329
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Dental crowding, Sandal gap, Intestinal malrotation, Carious teeth, Kyphosis, Lon... OMIM:617602
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon ORPHA:52503
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... ORPHA:1855
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Bi... OMIM:180849
Gapo Syndrome
Delayed eruption of teeth, Mandibular prognathia, Thick nasal alae, Anteverted nares, Depressed n... ORPHA:2067
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, W... OMIM:601853
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Anteverted nares, Met... OMIM:239850
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose OMIM:617183
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P... ORPHA:46627
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... ORPHA:99642
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis, Microcephaly OMIM:617105
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... ORPHA:952
Distal Deletion 10P
Micrognathia, Short neck, Microcephaly, Non-midline cleft lip, Abnormality of the elbow, Cryptorc... ORPHA:1580
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... OMIM:617974
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... ORPHA:1895
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Abnormality... ORPHA:476126
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contractur... OMIM:601559
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Autosomal Dominant Omodysplasia
Short palm, Short humerus, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidis... ORPHA:93328
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ... OMIM:114300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cryptorchidi... ORPHA:96184
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Microcephaly, Cl... OMIM:615948
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Macroorc... OMIM:300143
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... ORPHA:2916
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Depress... OMIM:226980
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... ORPHA:2314
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn... ORPHA:85198
Stickler Syndrome, Type Ii
Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers... OMIM:604841
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... OMIM:618975
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Premature loss of primary teeth, Bowing of the legs OMIM:241510
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Kbg Syndrome
Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Ant... ORPHA:2332
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Wi... OMIM:615560
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi... ORPHA:1914
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Sle... ORPHA:1185
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Tetrasomy 5P
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Short neck, Long fingers, Wide ant... ORPHA:3309
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612462
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous no... ORPHA:369891
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition,... OMIM:618529
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft maxillary alveo... ORPHA:508488
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly ORPHA:2867
Trisomy 12P
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted l... ORPHA:1699
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi... OMIM:615065
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Antevert... ORPHA:50945
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:264700
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Fibrous dyspl... ORPHA:562
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum OMIM:618218
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... OMIM:166200
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Microcephaly, Duplicatio... OMIM:243310
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Reduced bone miner... OMIM:619322
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Abnormal carpal morpholog... ORPHA:85166
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... ORPHA:2215
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Short philtrum, High palate, Dia... ORPHA:96121
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robin sequ... ORPHA:1358
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Cryptorchidism, Hemiverte... ORPHA:377
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... ORPHA:261318
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... OMIM:164745
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... ORPHA:2994
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Carious teet... ORPHA:53
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353277
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur... ORPHA:2063
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Coxa valga, Microgna... OMIM:619833
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Micrognathia, Hypo... OMIM:209885
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Anteverted nares, Hyperlordosis, Microcephaly, Pierre-Robin sequenc... OMIM:619980
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Micrognathia, Short neck, Long fingers, High, narrow palate, Cryptorchidism, Ab... ORPHA:96092
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Anteverted nares, Choanal atresia, Rec... ORPHA:83
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... OMIM:259710
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Microcephaly, Long nose, Und... OMIM:615866
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased... OMIM:614592
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Coffin-Siris Syndrome 6
Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narrow palate, Deep ... OMIM:617808
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D... OMIM:614744
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Metaphyseal widening, Flexion contracture, Short metatarsal, Cox... ORPHA:93307
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... OMIM:612913
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Short nose, Flexion contracture, Hypoplasia of... OMIM:608612
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum... ORPHA:487796
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Malabsorption ORPHA:452
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Downtu... OMIM:156200
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... ORPHA:828
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... ORPHA:87
Raine Syndrome
Mandibular prognathia, Micrognathia, Short neck, High palate, Choanal stenosis, Microdontia, Long... OMIM:259775
L1 Syndrome
Nausea and vomiting, Aganglionic megacolon ORPHA:275543
Lethal Recessive Chondrodysplasia
Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses ORPHA:1423
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Tapered finge... OMIM:216550
Localized Scleroderma
Abnormality of the dentition, Abnormality of the nose, Flexion contracture, Dental malocclusion, ... ORPHA:90289
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Short neck, High... ORPHA:7
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Microcephaly, Hypodontia, Amelogenesis imperfecta OMIM:615905
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Microcephaly, Hip dislocation, Wide nasal bridge, Joint contracture, ... OMIM:618005
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short neck, Cleft lip, Deep philtrum, Bulbous nose, Wide nasa... OMIM:618571
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... ORPHA:508533
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, W... OMIM:278250
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de... OMIM:611209
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... ORPHA:2619
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Microcephaly, Micrognathia, Flexion contracture, Osteoporosis, Secondary microcephaly,... OMIM:615851
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos... OMIM:145420
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Micrognathia, High pala... ORPHA:96170
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Micrognathia, Short neck, Underdev... ORPHA:2083
Marden-Walker Syndrome
Arachnodactyly, Anteverted nares, Micrognathia, Short neck, Wide anterior fontanel, High, narrow ... OMIM:248700
Sotos Syndrome
Mandibular prognathia, Joint laxity, Anteverted nares, Depressed nasal bridge, Broad nasal tip, H... OMIM:117550
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Cu... OMIM:601552
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Microcephaly, Non-midline cleft lip, Cleft palate, Scoliosis, Decreased t... ORPHA:85273
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand OMIM:608257
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nasal tip, Meta... ORPHA:2804
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Gapo Syndrome
Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi... OMIM:230740
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo... ORPHA:73223
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Kyphoscoliosis, Microcephaly, Carious teeth, Hypodontia OMIM:612079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... OMIM:615398
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Recurrent fractures, Hip d... OMIM:616507
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Micrognathia, Short neck, High, narrow palate, Microcephaly, Underdeveloped nasal alae, Joint sti... ORPHA:2516
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Hamartoma of tongue, Esophageal diver... OMIM:617925
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Osteoporosis, Concave na... OMIM:619525
Atelosteogenesis Type I
Joint dislocation, Short femur, Micrognathia, Malrotation of colon, Abnormal ossification involvi... ORPHA:1190
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... OMIM:268305
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Nablus Mask-Like Facial Syndrome
Short neck, Hypoplasia of the maxilla, High palate, Anteverted nares, Depressed nasal bridge, Sho... OMIM:608156
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... ORPHA:1193
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Emanuel Syndrome
Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Intestinal malrotation, De... OMIM:609029
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... OMIM:118650
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis OMIM:613559
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Mi... ORPHA:96097
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Thi... ORPHA:2983
Cleft Palate-Large Ears-Small Head Syndrome
Micrognathia, Microcephaly, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Short d... ORPHA:2013
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners... OMIM:601224
Monosomy 18P
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Microcephaly, Wide nasal bridge, Cleft p... ORPHA:1598
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Distal Monosomy 7Q36
Micrognathia, Short neck, Microcephaly, Non-midline cleft lip, Bulbous nose, Cryptorchidism, Clef... ORPHA:1636
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, Anisospondyly, ... ORPHA:1865
Fatty Acyl-Coa Reductase 1 Deficiency
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Pro... ORPHA:438178
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Microcephaly, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, L... OMIM:615502
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Cleft palate, High palate, Scoliosis, Malar flattening, Open mouth OMIM:620021
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... ORPHA:166100
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Treacher Collins Syndrome 4
Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening OMIM:618939
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Short nose, Downturned corners of mouth, Everted lower lip vermilion, Wid... OMIM:617865
Igg4-Related Aortitis
Intestinal obstruction, Abdominal pain ORPHA:449400
Microtriplication 11Q24.1
Joint dislocation, Wide nose, Short neck, Metatarsus adductus, Microcephaly, Limitation of joint ... ORPHA:289522
Joubert Syndrome 18
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl... OMIM:614815
Larsen Syndrome
Finger syndactyly, Depressed nasal bridge, Large joint dislocations, Craniosynostosis, Cryptorchi... ORPHA:503
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Macroorchidis... ORPHA:139474
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate,... ORPHA:457365
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... OMIM:253200
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... ORPHA:3429
Osteogenesis Imperfecta, Type X
Osteopenia, Relative macrocephaly, Bowing of the long bones, Short femur, Thoracic scoliosis, Joi... OMIM:613848
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Narrow palate, Ankle clonus, Dow... OMIM:614222
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Distal Deletion 10Q
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod... ORPHA:96148
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle... OMIM:601349
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow... ORPHA:93946
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Scoliosis, Short nose ORPHA:496790
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavic... ORPHA:85199
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,... OMIM:618388
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Piebald Trait
Aganglionic megacolon OMIM:172800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Micrognathia, Microcephaly, Osteoporosis, Concave nasal ridge, Clinoda... ORPHA:73272
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Microcephaly, Underdeveloped nasa... OMIM:613026
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os... ORPHA:93315
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte... ORPHA:1512
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Dyskeratosis Congenita
Esophageal stenosis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Malabsorpt... ORPHA:1775
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Carious teeth, Mild microcephaly, Thick vermilion border, Secondary microcephaly... ORPHA:363523
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... ORPHA:531
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Microcephaly, Long fingers, Prominent no... ORPHA:447980
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... OMIM:259700
Qazi-Markouizos Syndrome
Prominent nasal bridge, Tapered finger, High, narrow palate, Cryptorchidism, Hypoplasia of teeth,... ORPHA:3010
Peho Syndrome
Tented upper lip vermilion, Tapered finger, Short nose, Open mouth, Retrognathia, Progressive mic... OMIM:260565
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t... ORPHA:485405
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... ORPHA:534
Braddock-Carey Syndrome 2
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrog... OMIM:619981
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Mesiodens, Ma... ORPHA:314647
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor... ORPHA:140
20Q11.2 Microduplication Syndrome
Prominent metopic ridge, Tented upper lip vermilion, Sacral dimple, Anteverted nares, Depressed n... ORPHA:363659
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microcephaly, Wide nasal bridge, Cleft... ORPHA:251056
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow... OMIM:618590
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... ORPHA:2547
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Prominent nasal bridge, Delayed eruption of primary teeth, M... OMIM:133540
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... ORPHA:894
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Acrocephalopolydactyly
Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Short nose, Brachydactyly ORPHA:221054
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... ORPHA:289157
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Short lo... OMIM:224410
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... ORPHA:404440
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Recon Progeroid Syndrome
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o... OMIM:620370
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Micrognathia, Short... OMIM:617802
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Micrognathi... OMIM:247200
Toluene Embryopathy
Micrognathia, Tapered finger, Microcephaly, Cryptorchidism, Thin vermilion border, Hypoplasia of ... ORPHA:1920
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio... OMIM:620369
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Slender nose, Delayed eruption of primary teeth, Microcep... OMIM:216400
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Koolen-De Vries Syndrome
High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi... ORPHA:96169
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio... OMIM:309350
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Flexion contr... ORPHA:90322
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia OMIM:211900
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Exaggerated cupid's bow, Depressed nasal bridge, Microcephaly, Cleft lip, Deep phil... OMIM:620098
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior... OMIM:616638
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... OMIM:610968
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Cr... OMIM:265050
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... ORPHA:435638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... OMIM:616300
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Trisomy 17P
Prominent metopic ridge, Wide nose, Tapered finger, Micrognathia, Short neck, Microcephaly, Promi... ORPHA:261290
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon ORPHA:261222
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... OMIM:612916
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... ORPHA:1295
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Orofacial cl... ORPHA:77301
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Microcephaly, Cone... ORPHA:808
Martin-Probst Syndrome
Micrognathia, Microcephaly, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide ... OMIM:300519
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Flexion contr... OMIM:619383
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Prominent nasal bridge, Micrognathia, Hypo... ORPHA:85201
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Microcephaly, Flexion contracture, Hyperextensibility at wri... ORPHA:544503
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Micro Syndrome
Anteverted nares, Micrognathia, Microcephaly, Kyphosis, Cryptorchidism, Joint stiffness, Wide nas... ORPHA:2510
Focal Dermal Hypoplasia
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... OMIM:305600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... OMIM:309583
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Microcephaly OMIM:272300
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Anteriorl... OMIM:305450
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... ORPHA:2521
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose ORPHA:2835
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Wide nasal... ORPHA:1797
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis OMIM:259730
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Small hand, Shor... ORPHA:93324
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypoplasia of the maxilla, Short nose, Cleft palate, Clinodactyly, Short distal phalan... OMIM:614261
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Generalized joint laxity, High palate, Abnormality of the cervical spine, Micr... ORPHA:2953
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Microphthalmia, Syndromic 12
Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft p... OMIM:615524
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... OMIM:215140
Hypophosphatasia, Adult
Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re... OMIM:146300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat... OMIM:618316
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Malabsorption, Gastroesophageal refl... ORPHA:183
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty... ORPHA:794
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... OMIM:617102
Renpenning Syndrome
Mandibular prognathia, Decreased testicular size, Macrodontia, Microcephaly, Abnormal thumb morph... ORPHA:3242
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... OMIM:246560
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Camptodactyly of finger, Taurodontia, Abnormality of the denti... ORPHA:3220
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee ... OMIM:614976
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:560
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Anteverted nares, Rocker bottom foot, Short neck, Microcephal... OMIM:301041
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph... ORPHA:221016
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt... ORPHA:313855
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... OMIM:617866
Prader-Willi Syndrome Due To Translocation
Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High palate, Clinodactyly ... ORPHA:177907
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Pr... OMIM:300558
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous... OMIM:616788
Meckel Syndrome, Type 8
Microcephaly, Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Shor... OMIM:613885
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Abnormality of the dentition, Mic... ORPHA:363528
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Bone cy... ORPHA:1752
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder disl... OMIM:245600
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Depressed nasal bridg... OMIM:211350
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... ORPHA:217017
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micrognathia, Short neck, Metaphyseal widening, Limit... OMIM:224400
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
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Macrocephaly, Metaphyseal cuppi... OMIM:300863
Tetrasomy 18P
Microcephaly, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum ORPHA:3307
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Microcephaly, Prominent nose, Kyphosis, Joi... ORPHA:1005
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... ORPHA:93351
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... ORPHA:251071
Flynn-Aird Syndrome
Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis ORPHA:2047
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting OMIM:300352
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacia... OMIM:618476
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Microcephaly, Preax... OMIM:610536
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
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
Atelis Syndrome 1
Prominent nose, Carious teeth, Lumbar kyphosis, High palate, Long philtrum OMIM:620184
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Relative macrocephaly, Natal tooth, Cranial hyperostosis, Oligodontia, Hypodontia OMIM:601345
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to... OMIM:610253
4H Leukodystrophy
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition ORPHA:289494
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Microcephaly OMIM:615328
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Cryptorchidism, Cleft pala... ORPHA:1812
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, E... OMIM:312870
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... ORPHA:2588
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Broad nasal tip, Wide nasal b... OMIM:615716
Glass Syndrome
Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig... OMIM:612313
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97278
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered... OMIM:618430
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... ORPHA:1200
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short neck, Microcephaly, Kyphosis, Hip dislocation, Wide mouth, Long phi... OMIM:608776
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... OMIM:608572
Tetraploidy
Microcephaly, Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,... ORPHA:3305
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... ORPHA:247806
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Micrognathia, Retrognathia, Short nose, Meckel diverticulum ORPHA:163961
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Joint hypermobility, Microcephaly, Cleft lip, Pierre-Robin sequence, Fl... OMIM:619504
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibular prognathia, Broad ... OMIM:135500
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Porphyria Variegata
Abdominal pain, Ileus, Constipation, Abnormal autonomic nervous system physiology, Hepatocellular... ORPHA:79473
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S... ORPHA:457279
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Anteverted nares, Intestinal malrotation, O... OMIM:244450
Opsismodysplasia
Short metacarpal, Anteverted nares, Depressed nasal bridge, Short neck, Hypoplasia of the odontoi... OMIM:258480
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Malabsorption OMIM:601675
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Microcepha... ORPHA:65286
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
Toriello-Carey Syndrome
Aganglionic megacolon, Micrognathia, Short neck, Wide anterior fontanel, Microcephaly, Short nose... ORPHA:3338
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... OMIM:602535
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mouth,... OMIM:615539
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers... OMIM:617527
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Pitt-Hopkins Syndrome
Short neck, Short metatarsal, Finger clinodactyly, Short philtrum, Anteverted nares, Tapered fing... ORPHA:2896
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Abnormality of the vertebral... OMIM:302950
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Joint stiffness, Hypoplastic ilia,... ORPHA:1860
Fraser Syndrome
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft ala nasi, Depressed nasa... ORPHA:2052
Neuronal Intestinal Pseudoobstruction
Natal tooth, Malabsorption ORPHA:99811
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... ORPHA:296
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Cryptorchidism, Dental malocclusion, Anos... OMIM:603457
Kleefstra Syndrome
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Alveolar ridge overgrowth, Cleft... OMIM:612938
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Mandibular prognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, M... OMIM:613603
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Squared i... ORPHA:2746
Aspartylglucosaminuria
Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... ORPHA:93
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Met... ORPHA:35107
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Short neck, Kyphosis, Thick lower lip v... OMIM:309900
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Secondary microcephaly, Lo... OMIM:616420
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna... ORPHA:521426
Genitopalatocardiac Syndrome
Micrognathia, Microcephaly, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cryptorc... ORPHA:2075
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... OMIM:602557
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Metopic synostosis, Long philtrum, Short nose OMIM:300581
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... OMIM:113300
Cole-Carpenter Syndrome 1
Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... OMIM:112240
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Say Syndrome
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Microcephaly, Cleft palate, Shor... OMIM:181180
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Joint laxity, Genu recurvatum, Kyphosis, Cryptorchidism, Narrow palate, Sh... ORPHA:364028
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Trisomy 10P
Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Micrognathia, ... ORPHA:171929
Autosomal Dominant Brachyolmia
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis ORPHA:93304
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Short ... ORPHA:1675
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi... ORPHA:46059
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Sandal gap, Joint hypermobility, Microcephaly, Ca... OMIM:619229
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia OMIM:616901
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... ORPHA:2962
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Toe syndactyly, Short neck, Microcephaly, Cryptorchidism, Platyspondyly, Cone-shaped ... OMIM:618958
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93259
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too... OMIM:305100
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... ORPHA:342
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate ORPHA:85284
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Malar flattening, Spina bifid... OMIM:268850
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Intestinal malrot... ORPHA:401935
Phocomelia, Schinzel Type
Cryptorchidism, Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, High,... ORPHA:2879
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, 2-3 toe syndactyly, Downturne... OMIM:613443
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing... ORPHA:994
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Microcephaly, Calcaneovalgus deform... ORPHA:3078
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... ORPHA:436003
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Bamforth-Lazarus Syndrome
Retrognathia, Choanal atresia, Cleft palate ORPHA:1226
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Microcephaly, Underdevelo... ORPHA:2315
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Hyperlordosis, Broad nasa... ORPHA:354
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Kyphoscoliosis, Short neck, Tapered finger, Microcephaly, Bulbous nose,... OMIM:615803
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Narrow greater sciatic notch, Abnormal bone ossificati... ORPHA:79328
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97261
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Micrognathia, Microcephaly, Cleft lip, Partial dup... OMIM:618348
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,... OMIM:610682
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal ala... OMIM:619005
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Microcephaly, Clinodactyly, Short nose OMIM:618087
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Ge... OMIM:602398
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Microcephaly, Broad nasal tip, Wide nasal bridge, Progressi... OMIM:300749
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Microcephaly, Postaxial ... OMIM:607330
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas... ORPHA:783
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe... ORPHA:94089
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Anti-Glomerular Basement Membrane Disease
Arthritis, Persistence of primary teeth ORPHA:375
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, Short neck, High, narrow palate, Downturned corners of... OMIM:122470
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short ne... ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Restrictive Dermopathy 1
Natal tooth, Depressed nasal bridge, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Narrow nas... OMIM:275210
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... ORPHA:1906
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... ORPHA:239
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97283
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo... ORPHA:245
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Abnormality of the dentiti... ORPHA:261112
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Atelosteogenesis Type Ii
Cervical kyphosis, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Broa... ORPHA:56304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... ORPHA:93360
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decreased calvarial ossification... OMIM:618265
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... OMIM:304120
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Mucopolysaccharidosis, Type X
Hyperlordosis, Diastema, Open bite, Wide nasal bridge, Genu valgum, Hip dysplasia, Posterior scal... OMIM:619698
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clinodactyly of the 5th finger, Antev... OMIM:618454
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares, ... OMIM:146510
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Ma... OMIM:617822
Sanjad-Sakati Syndrome
Intestinal obstruction ORPHA:2323
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Primary microcephaly... OMIM:618828
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Choanal atresia, Prominent nasal bridge, Short neck, Cleft palate, High palate, Scoliosis, Macroc... ORPHA:52055
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of... ORPHA:1110
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Diaphanospondylodysostosis
Short neck, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... ORPHA:357074
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Depress... OMIM:258315
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Joint... OMIM:602196
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Anteverted nares, Depressed na... ORPHA:1465
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valg... ORPHA:263508
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... OMIM:617022
Down Syndrome
Joint laxity, Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnor... ORPHA:870
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... ORPHA:1300
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Prominent nose, Carious te... OMIM:620191
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C... OMIM:263750
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97280
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Mi... ORPHA:314655
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period... ORPHA:955
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly, Thick vermilion border, Long philtrum ORPHA:833
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Shor... ORPHA:798
Peho Syndrome
Anteverted nares, Tapered finger, Microcephaly, Short nose, Flexion contracture, Gingival overgro... ORPHA:2836
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... OMIM:613458
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... ORPHA:160
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Joint dislocation, Osteopenia, Genu recurvatum, Micrognathia, Flexion contracture, Bifid uvula, D... OMIM:130070
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Enamel hypoplasia OMIM:616029
Sweeney-Cox Syndrome
Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly, Median c... OMIM:617746
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Cleft ala nasi, Dental crow... OMIM:219000
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o... OMIM:244600
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
15Q14 Microdeletion Syndrome
Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Kyphosis, Cleft palate, Short... ORPHA:261190
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... ORPHA:1790
Distal Duplication 17Q
Hallux valgus, Thin upper lip vermilion, Joint laxity, Overlapping toe, Arachnodactyly, Depressed... ORPHA:3379
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa... OMIM:300990
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia OMIM:614381
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Short neck, Broad nasal tip, ... ORPHA:96061
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... ORPHA:1826
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Optic atrophy, Paralytic ileus, Facial diplegia, Gastrostomy tube feed... ORPHA:254930
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,... ORPHA:264450
Ring Chromosome 7 Syndrome
Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Median cleft ... ORPHA:1449
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Broad hallux, ... OMIM:301044
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, ... OMIM:617425
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Ileus OMIM:304790
Monosomy 22Q13.3
Sacral dimple, Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Macrocephal... ORPHA:48652
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i... OMIM:619769
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Hypoplast... OMIM:200600
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Short neck, Humeroradial ... OMIM:251230
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Long philtrum, Depre... OMIM:309590
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... OMIM:601353
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st... OMIM:222448
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Chronic diarrhea OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Micrognathia, Protruding tong... OMIM:242860
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Postaxial polydactyly, Craniosynostosis, Proboscis, Pos... OMIM:605627
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Anteverted nares, Craniosynostosis, Depressed nasal bridge, Choanal... OMIM:123790
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Joi... OMIM:604173
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum OMIM:613312
Cerebrofaciothoracic Dysplasia
Wide nose, Short neck, Cleft upper lip, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segmen... ORPHA:1394
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co... ORPHA:1299
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Microcephaly, Esophageal atresia, Spina bifida occulta, Tr... OMIM:301030
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Prominent nasal bridge, Micrognathia, Cario... OMIM:223370
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Wrinkly Skin Syndrome
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... ORPHA:2834
Triploidy
Finger syndactyly, Intestinal malrotation, Micrognathia, Short neck, Cryptorchidism, Non-midline ... ORPHA:3376
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Sandal gap, Microcephaly, Narrow mouth, Short nose, Brach... OMIM:616459
Noonan Syndrome 1
Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate, Cryptorchidism, Dental malocclusio... OMIM:163950
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... OMIM:156400
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... ORPHA:79444
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal bridge, Microcephaly,... OMIM:614105
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... OMIM:178110
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus,... ORPHA:2345
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate OMIM:617337
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... ORPHA:79500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Short neck, Microcephaly, De... OMIM:616038
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Protruding tongue, Micrognathia, Short neck, Short nose, Progressive microcephaly, Thi... OMIM:608779
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Microcephaly, Broad nasal tip, ... OMIM:614207
Opitz Gbbb Syndrome
Natal tooth, Prominent metopic ridge, Anteverted nares, Craniosynostosis, Micrognathia, Microceph... ORPHA:2745
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Proximal placement of thumb, Micrognathia, Limited elbow movement, Short neck, Downturned corners... OMIM:610759
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... OMIM:151210
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micrognathia, Short neck, Prominent nose, Lo... ORPHA:2636
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Hemivertebrae, Cleft palate, Anal atresia OMIM:220210
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Williams Syndrome
Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme... ORPHA:904
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of fi... ORPHA:2311
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Constipation, Dysphagia, ... OMIM:226600
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose, Retrognathia OMIM:234050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Lateral Meningocele Syndrome
Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Short neck, Kyphosis, Crypt... OMIM:130720
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con... OMIM:248370
Pelvis-Shoulder Dysplasia
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... ORPHA:2839
Johnson Neuroectodermal Syndrome
Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... ORPHA:2316
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia ORPHA:447896
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Microcephaly, Cryp... OMIM:257300
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Carey-Fineman-Ziter Syndrome 1
Anteverted nares, Depressed nasal bridge, Tapered finger, Micrognathia, Trismus, Spinal rigidity,... OMIM:254940
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... ORPHA:221008
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... ORPHA:109
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol... OMIM:612651
Hypophosphatasia, Infantile
Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Vertebral clefting, Increased... OMIM:241500
22Q11.2 Duplication Syndrome
Wide nose, Microcephaly, Micrognathia, Depressed nasal ridge, Cleft palate, Scoliosis, Smooth phi... ORPHA:1727
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b... OMIM:244460
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Proxi... ORPHA:168549
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Anteverted nares, Depressed nas... OMIM:612530
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Cryptorch... ORPHA:191
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... OMIM:617140
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft upper lip, Cleft palate, Azoospermia, Abnormality of the vertebral column OMIM:601076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... ORPHA:95699
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Microcephaly, Underdevel... OMIM:616835
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Asymmetry of the mouth, Mic... ORPHA:401973
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Abnormal fingertip morphology, Abnormality of the dentition, Micrognathia, Os... ORPHA:90154
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Micro... ORPHA:521445
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... OMIM:618332
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Macrocephaly, Short nose ORPHA:2143
Nicolaides-Baraitser Syndrome
Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph... OMIM:601358
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Thanatophoric Dysplasia
Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hy... ORPHA:2655
Fetal Hydantoin Syndrome
Microcephaly, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip ... ORPHA:1912
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ... ORPHA:363611
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... OMIM:602111
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... OMIM:300912
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... OMIM:131300
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Mosaic Trisomy 1
Thoracic scoliosis, Orofacial cleft, Finger clinodactyly, Absent distal interphalangeal creases, ... ORPHA:1692
C Syndrome
Joint dislocation, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodactyly of t... ORPHA:1308
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... ORPHA:1974
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde... OMIM:109400
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak... OMIM:253220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614749
Shigellosis
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... ORPHA:810
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ileus, High palate OMIM:620156
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... OMIM:209880
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Long fingers, Sho... ORPHA:357001
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th meta... OMIM:619638
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, Cleft palate, ... OMIM:614080
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Anteverted... OMIM:252500
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation OMIM:250250
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... ORPHA:391474
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Microcephaly, Orofacial cleft... OMIM:601701
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vomiting, Constipation ORPHA:32960
Peters-Plus Syndrome
Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim... OMIM:261540
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater sciatic notch... OMIM:602271
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr... OMIM:613795
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Microcephaly, Flexion contract... OMIM:301072
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Microcephaly, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly, Cli... OMIM:619123
Cardiofaciocutaneous Syndrome
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Cryptorchidism... ORPHA:1340
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... OMIM:258860
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ... OMIM:609638
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,... OMIM:610442
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... ORPHA:93325
Temtamy Syndrome
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Long philtrum... OMIM:218340
Diabetic Embryopathy
Microcephaly, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Cleft palate, Vertebral s... ORPHA:1926
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho... OMIM:163200
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Micr... OMIM:610828
Recombinant 8 Syndrome
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Cleft upper lip, Abnormality o... ORPHA:96167
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, M... ORPHA:3132
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Microceph... ORPHA:251038
Piebaldism
Aganglionic megacolon ORPHA:2884
Distal Deletion 9P
Abnormality of the dentition, Short neck, High, narrow palate, Wide nasal bridge, Cleft palate, S... ORPHA:1642
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Microcephaly, Carious teeth, Hypodontia, Premature l... ORPHA:157954
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... ORPHA:79443
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... OMIM:224690
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... OMIM:182250
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth... OMIM:619841
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Allergic rhinitis, Carious teeth, Steatorrhea, Calvarial hyperostosis OMIM:612714
Mandibuloacral Dysplasia
Dental crowding, Narrow nose, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Cont... ORPHA:2457
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Microcephaly, Kyphosis, 2-3 toe syndactyly, Cleft p... OMIM:616449
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Hand polydactyly, Scoliosis, Macr... ORPHA:261197
3Mc Syndrome 1
Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, M... OMIM:257920
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Spin... ORPHA:1724
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... ORPHA:85194
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi... OMIM:612289
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Micrognathia, Metaphyseal widening,... ORPHA:440354
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Microcephaly, Short neck, Micrognathia, Cryptorchidism, Wide... ORPHA:2282
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... OMIM:617063
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
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Microcephaly, Protruding tongue, Gingival overgrowth, Wide nasal bridge, ... OMIM:619179
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bul... OMIM:603736
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy... ORPHA:464738
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,... OMIM:269860
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, Meckel divertic... OMIM:616395
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly, Decreased tes... OMIM:614838
Schimke Immunoosseous Dysplasia
Osteopenia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Bil... OMIM:242900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly ORPHA:93283
Frontofacionasal Dysplasia
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... OMIM:229400
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... ORPHA:199276
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Feeding difficulti... OMIM:174300
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Abnormality of the dentition, Tapered finger, Microcephaly, Thick lower lip vermilio... ORPHA:261652
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... OMIM:166210
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Bulbous nose, Narrow mouth,... OMIM:614114
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose OMIM:170100
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... ORPHA:2059
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Microcephaly, Sandal gap, Long philtrum OMIM:300887
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Microcephaly, Trismus, Submu... ORPHA:2671
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... ORPHA:158687
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High palate OMIM:162300
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... OMIM:619598
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption ORPHA:935
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose ORPHA:228384
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... ORPHA:373
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, An... OMIM:617157
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... ORPHA:1104
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... OMIM:616145
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Delayed closure o... OMIM:618460
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Microcephaly, Broad nasal... ORPHA:438216
Diamond-Blackfan Anemia 6
Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re... OMIM:612561
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Plummer-Vinson Syndrome
Tongue atrophy, Poor appetite, Abdominal pain, Esophageal web, Dysphagia, Glossitis ORPHA:54028
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha... ORPHA:2990
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Underdeveloped n... OMIM:614230
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Carious teeth, Metaphyseal chond... ORPHA:811
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... ORPHA:3144
Deeah Syndrome
Prominent nasal tip, Cervical hemivertebrae, Malabsorption, Short neck, Cryptorchidism, Narrow pa... OMIM:619004
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Bilateral cryptorchidism, Flexion contractur... OMIM:263650
Bronchogenic Cyst
Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Microcepha... ORPHA:457193
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... ORPHA:289
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Lon... OMIM:301091
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler... OMIM:607944
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Choa... OMIM:269150
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Microce... OMIM:613457
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia OMIM:613327
Williams-Beuren Syndrome
Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo... OMIM:194050
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies... OMIM:230600
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Microcep... OMIM:258865
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Coxa vara, Short palm ORPHA:168555
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... ORPHA:659
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the... OMIM:135900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Osteopenia, Joint laxity, Depressed nasal bridge, Craniosynostosis, Short ... ORPHA:309282
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Depressed nasal bridge, Delayed... OMIM:601088
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... OMIM:619493
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co... OMIM:619124
Benign Schwannoma
Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwanno... ORPHA:252164
Prolidase Deficiency
Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Genu ... ORPHA:742
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Short neck, Long fingers, Narrow mouth, Microcephaly, Cleft... OMIM:156610
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Abnormalit... OMIM:154400
Noonan Syndrome 7
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Dysphagia, Impaired orophar... OMIM:613706
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cleft lip, Prominen... OMIM:301022
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint hypermobility, Microcephaly, Joint stiffness, Kyphosis, Scoliosis, ... OMIM:617988
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate, Feeding difficulties ORPHA:220497
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Joint stiffness, Coxa valga, Metatarsus adductus, Avascular ne... ORPHA:2557
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, H... ORPHA:2250
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ... OMIM:610015
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Malabsorption, Ileus, Secretory diarrhea, Colitis, Abnormal intestine morphology, Vomi... ORPHA:37042
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Secondary microcephaly, Open mouth, Short nose OMIM:618437
Ogden Syndrome
Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, Short philtrum, High palate,... OMIM:300855
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Ramon Syndrome
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Juvenile rh... OMIM:266270
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Microcephal... OMIM:147791
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... ORPHA:198
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Aganglionic megacolon, Feeding difficulties in infancy, Optic atrophy, Macro... ORPHA:847
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Aymé-Gripp Syndrome
Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Cr... ORPHA:1272
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Microcephaly, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Bilateral cryptorchidism, ... OMIM:619859
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... OMIM:606170
Immunodeficiency 49
Wormian bones, Natal tooth, Short philtrum, Micrognathia OMIM:617237
Native American Myopathy
Joint laxity, Micrognathia, Cryptorchidism, Cleft palate, Abnormal curvature of the vertebral col... ORPHA:168572
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Poliomyelitis
Abnormal motor nerve conduction velocity, Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea ORPHA:2912
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, High palate, Prominent palatine ridges, Microretrognathia... ORPHA:280633
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima... ORPHA:667
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspon... ORPHA:93274
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge, Malar flattening, Sh... OMIM:613038
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Tooth agenes... OMIM:147950
9q subtelomeric deletion syndrome
Short nose, Microcephaly, Anteverted nares, Protruding tongue DECIPHER:52
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Hydrolethalus
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft pala... ORPHA:2189
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic vertebral bodies, Macro... ORPHA:79255
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93260
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... OMIM:609220
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Cleft palate ORPHA:2604
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... ORPHA:261236
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Kyphoscoli... ORPHA:488642
Lowry-Wood Syndrome
Epiphyseal dysplasia, Microcephaly, Elbow dislocation, Joint stiffness, Coxa vara, Irregular epip... ORPHA:1824
Weiss-Kruszka Syndrome
Prominent metopic ridge, Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, ... OMIM:618619
Xylt1-Cdg
Joint dislocation, Relative macrocephaly, Joint laxity, Coxa valga, Microcephaly, Flared metaphys... ORPHA:370930
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly... OMIM:608013
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth ORPHA:2760
Distal Deletion 3P
Sacral dimple, Anteverted nares, Micrognathia, Short neck, Microcephaly, Postaxial hand polydacty... ORPHA:1620
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Rabson-Mendenhall Syndrome
Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno... ORPHA:769
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Tape... OMIM:300968
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltration of the e... OMIM:615582
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thin upper lip vermilion, Micrognathia, Abnormality of the wrist, Short neck, Upper... ORPHA:529962
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia ORPHA:251393
Kilquist Syndrome
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Coxa valga, Midgut malrotation, X... OMIM:619080
Geleophysic Dysplasia 2
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... OMIM:614185
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, 2-3 toe synd... OMIM:106260
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... OMIM:616730
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... OMIM:620186
Barber-Say Syndrome
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth ORPHA:1231
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod... ORPHA:2044
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Long toe, Arachnodactyly, An... ORPHA:3063
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft... OMIM:603116
Ramos-Arroyo Syndrome
Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic constipation, Smooth ... ORPHA:1051
Joubert Syndrome
Feeding difficulties in infancy, Aganglionic megacolon ORPHA:475
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bow... OMIM:616462
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Vomiting OMIM:616881
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Malnutrition, Feeding difficulties, Gast... ORPHA:89842
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Trisomy 18
Microretrognathia, Camptodactyly of finger, Choanal atresia, Microcephaly, Esophageal atresia, Po... ORPHA:3380
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... ORPHA:1401
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Bent Bone Dysplasia Syndrome 2
Osteopenia, Relative macrocephaly, Bowed humerus, Depressed nasal bridge, Short neck, Ulnar bowin... OMIM:620076
Opitz Gbbb Syndrome
Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Cleft upper lip, Rec... OMIM:300000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Cleft palate, Genu valgum, Decreased testicula... OMIM:614880
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate, Feeding difficulties ORPHA:220493
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th... ORPHA:653
Mosaic Trisomy 9
Camptodactyly of finger, Rocker bottom foot, Intestinal malrotation, Micrognathia, Elbow dislocat... ORPHA:99776
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe,... OMIM:264090
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macroc... ORPHA:210548
Incontinentia Pigmenti
Delayed eruption of teeth, Kyphoscoliosis, Conical tooth, Microcephaly, Hemivertebrae, Oligodonti... OMIM:308300
Cornelia De Lange Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, Widely spaced... ORPHA:199
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Generalized joint laxity, High palate, Abnormal duodenum morphology, Microretr... OMIM:601776
Brachyolmia Type 2
Platyspondyly OMIM:613678
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Underdeveloped nasal alae, C... ORPHA:453499
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Tracheomalacia, Micrognathia, Microcephaly, Small han... ORPHA:444077
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Charge Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof... ORPHA:138
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Agnathia-Otocephaly Complex
Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia... OMIM:202650
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Micrognathia, Bro... ORPHA:2754
Cranioectodermal Dysplasia 3
Joint laxity, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal crani... OMIM:614099
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect OMIM:618845
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, High palate, Bifid uvula, Gastrostomy tube feeding... ORPHA:247262
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia ORPHA:2728
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... ORPHA:233
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Morquio Syndrome C
Platyspondyly OMIM:252300
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ... OMIM:136140
Hartsfield Syndrome
Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Cryptor... OMIM:615465
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal narrowing, Long p... OMIM:605309
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Depressed nasal bridge, Microce... ORPHA:404448
Lacrimoauriculodentodigital Syndrome 2
Duplication of thumb phalanx, Conical tooth, Abnormal thumb morphology, Carious teeth, Hypodontia... OMIM:620192
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... OMIM:231050
Tarp Syndrome
Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Cry... ORPHA:2886
Microlissencephaly-Micromelia Syndrome
Short neck, Secondary microcephaly, Long philtrum, Short nose, Adducted thumb ORPHA:50810
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bridge, Orofacia... ORPHA:1519
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Alg12-Cdg
Thin upper lip vermilion, Wide nose, Sandal gap, Intestinal malrotation, Proximal placement of th... ORPHA:79324
Chops Syndrome
Anteverted nares, Microcephaly, High, narrow palate, Cryptorchidism, Downturned corners of mouth,... OMIM:616368
White-Kernohan Syndrome
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... OMIM:619426
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Anteverted nares, Increased i... OMIM:619727
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... OMIM:614091
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... ORPHA:2308
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor... OMIM:613406
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diarrhea, Vestibular areflexia, Vomiting ORPHA:3240
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Depressed nasal bridge, Clef... OMIM:280000
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Branchiooculofacial Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Depressed ... OMIM:113620
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Microcephaly, Submucous cleft hard palate, Vertebral clefting, Cl... OMIM:301043
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Short nose, Micrognathia OMIM:266810
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior fontanel, Kyphosis, Tibial bowing, Fe... OMIM:616482
Meckel Syndrome, Type 1
Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxia... OMIM:249000
Adenylosuccinase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Microcephaly, Wide mouth, Lo... OMIM:103050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n... OMIM:619522
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Intestinal obstruction, Nausea and vomiting, Abdominal pain ORPHA:900
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency OMIM:219700
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Diamond-Blackfan Anemia 1
Depressed nasal ridge, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb ... OMIM:105650
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Kyphoscolios... OMIM:618820
Craniofrontonasal Syndrome
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormality ... OMIM:304110
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... ORPHA:2554
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... OMIM:304150
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness ORPHA:1345
Kabuki Syndrome
Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High palate, Widely spaced... ORPHA:2322
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Wide mouth, Macrocephaly, Short nose, Joint hypermobility ORPHA:293948
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Carious teeth, Long fingers, Na... OMIM:616734
Pallister-Hall Syndrome
Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radi... ORPHA:672
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... ORPHA:284169
Cadds
Short nose, Micrognathia ORPHA:369942
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, ... OMIM:301066
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... ORPHA:2167
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Premature loss of teeth, Oral leukoplakia, Microcephaly OMIM:616353
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m... OMIM:201180
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Metopic synostosis, Macrocephaly, Short... OMIM:613735
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, Clinodactyly of ... ORPHA:2031
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Carious teeth, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Narrow fora... ORPHA:220393
Lead Poisoning
Delayed eruption of teeth, Abnormal sperm morphology, Cranial hyperostosis, Oligozoospermia ORPHA:330015
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Restrictive Dermopathy
Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Multiple... ORPHA:1662
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Glycogen Storage Disease Iv
Hepatic failure, Esophageal varix OMIM:232500
Teebi-Shaltout Syndrome
Syndactyly, Rocker bottom foot, Microcephaly, Metatarsus adductus, High, narrow palate, Narrow mo... OMIM:272950
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... ORPHA:139417
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Optic atrophy, Esophageal varix OMIM:614576
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery... OMIM:119500
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia OMIM:615510
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Narrow nasal ridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Advanced erupt... ORPHA:280365
Bloom Syndrome
Syndactyly, Microcephaly, Prominent nose, Cryptorchidism, Recurrent upper respiratory tract infec... OMIM:210900
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Kyp... ORPHA:2461
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf... ORPHA:508542
Lelis Syndrome
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue ORPHA:140936
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormal thumb morphology... ORPHA:2719
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... ORPHA:500150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Joint laxity, Sandal gap, S... OMIM:620330
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... ORPHA:3455
Waardenburg Syndrome, Type 4C
Aganglionic megacolon OMIM:613266
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Sacral dimple, Hyperextensibility at elbow, Tapered finger, Microcephal... ORPHA:319182
Dyskeratosis Congenita, Autosomal Recessive 1
Microcephaly, Carious teeth, Esophageal stricture, Osteoporosis, Microdontia, Pterygium, Oral leu... OMIM:224230
46,Xy Sex Reversal 4
Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Clef... OMIM:154230
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Xerostomia, Widely spaced teeth... OMIM:620193
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Short neck, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P... OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... OMIM:619503
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Tracheoesophageal fistula, Cle... ORPHA:3157
Coffin-Siris Syndrome 11
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula OMIM:618779
Cerebrocostomandibular Syndrome
Tracheomalacia, Micrognathia, Microcephaly, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of... ORPHA:1393
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Hepatic failure, Esophageal varix, Decreased liver function ORPHA:367
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... ORPHA:50
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Short neck, Flexion contrac... OMIM:601803
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Congenital Myopathy 13
Kyphoscoliosis, Micrognathia, Microcephaly, Cryptorchidism, Flexion contracture, Cleft palate, Do... OMIM:255995
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short greater sciatic notc... OMIM:187601
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Wolf-Hirschhorn Syndrome
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... OMIM:194190
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Abnormal finger morphology, Gingivitis, Short p... ORPHA:3194
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris... OMIM:142945
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ... OMIM:250420
Peters Plus Syndrome
Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bifida occul... ORPHA:709
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... OMIM:617137
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Microcephaly, Narrow ... OMIM:309500
Coffin-Siris Syndrome 4
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... OMIM:614609
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Cryptorchidism, Hip dislocation,... OMIM:309000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Anal atresia OMIM:607323
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... OMIM:278000
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Feeding difficulties ORPHA:3339
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... ORPHA:2363
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Spondyloocular Syndrome
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Abnormalit... OMIM:605822
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Dental crowding, Arachno... OMIM:225400
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni... OMIM:619488
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hy... OMIM:613717
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxit... OMIM:613610
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Macrocephaly, Short nose OMIM:611936
Aspartylglucosaminuria
Joint laxity, Anteverted nares, Depressed nasal bridge, Microcephaly, Kyphosis, Hypoplastic front... OMIM:208400
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Th... ORPHA:2785
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Microcephaly, Prea... OMIM:243605
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos... OMIM:616430
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Melena, Hepatocellular carci... OMIM:276700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Arachnodactyly, Micrognathia, Microcephaly, Contracture of the distal interphala... ORPHA:83617
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... ORPHA:522077
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Dental crowding, Arachnodactyly, Protrusio acetabuli, Micrognat... ORPHA:558
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Choanal atresia, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasti... OMIM:300712
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa... ORPHA:480880
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Osteopenia, Micrognathia, Prominent nose, Bilateral cry... OMIM:150230
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty... ORPHA:79134
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:241530
Fetal Akinesia Deformation Sequence 1
Hip contracture, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Short neck, High, nar... OMIM:208150
Leopard Syndrome 1
Mandibular prognathia, Limited elbow movement, Short neck, Kyphoscoliosis, Cryptorchidism, Depres... OMIM:151100
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Hia... OMIM:304050
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the e... ORPHA:85276
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Feeding difficulties OMIM:617239
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Enterocolitis, Ulcera... ORPHA:79259
Goldberg-Shprintzen Syndrome
Aganglionic megacolon OMIM:609460
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Secondary microcephaly, Primary microcephaly ORPHA:289266
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Microcephaly, Protruding tongue, Cryptorchidism, Downturned corners of mouth, M... ORPHA:96147
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Faundes-Banka Syndrome
Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, ... OMIM:619376
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Prominent fi... OMIM:309800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypoplastic sac... OMIM:604292
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... OMIM:615220
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261537
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... OMIM:614083
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... OMIM:263520
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abnormal tibia morphology, Bone cyst, Gen... ORPHA:363700
Coach Syndrome 1
Optic disc pallor, Esophageal varix OMIM:216360
Bardet-Biedl Syndrome 1
Aganglionic megacolon, High, narrow palate, High palate OMIM:209900
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... OMIM:609192
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad... OMIM:147920
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Exocrine pa... ORPHA:586
Tetrasomy 9P
Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p... ORPHA:3310
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Os... OMIM:259770
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:129900
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption ORPHA:175
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia OMIM:243440
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:2152
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Pterygium Colli, Isolated
Short nose OMIM:177990
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300554
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Depressed nasal bridge, Fle... OMIM:619479
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Microcephaly OMIM:617799
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal dental enamel morphology, Campto... ORPHA:2273
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261552
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Isolated Exencephaly
Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone ORPHA:563612
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Microcephaly, Cryptorchidism, Flexion contracture, Secon... OMIM:614225
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Ab... OMIM:270400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Macroglo... ORPHA:505248
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, F... ORPHA:567
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon ORPHA:959
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... OMIM:619475
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... ORPHA:84
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... ORPHA:169805
Immunodeficiency 12
Esophageal stricture, Recurrent aphthous stomatitis OMIM:615468
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis, Macrocephaly, Os... ORPHA:2396
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Chronic con... ORPHA:79330
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Esophageal varix, Hepatocellular adenoma, Vomiting, Nausea ORPHA:264580
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Gout, Wide mouth, High palate, Short nose, Convex nasal r... OMIM:300661
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2908
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Caroli Disease
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, Vomiting, Nausea ORPHA:53035
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Intestinal malrotation, Cleft soft palate, Microcephaly, Flexion contr... OMIM:619321
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophili... OMIM:610168
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Depressed nas... OMIM:618188
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Cryptorchidism,... OMIM:235730
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Pterygium, Rocker bottom foot, Swollen lip, Cleft u... OMIM:256520
Sotos Syndrome
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion cont... ORPHA:821
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Craniosynostosis, Short neck, Postaxial hand polydactyly, Hypoplasia of the sm... OMIM:200995
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorchidism, High palat... OMIM:609942
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Optic atrophy, Esophageal varix, High palate ORPHA:394
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300009
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Alkaptonuria
Joint dislocation, Abnormality of the nose, Cartilage destruction, Joint stiffness, Osteoarthriti... ORPHA:56
Mirage Syndrome
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture OMIM:617053
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis m... ORPHA:86822
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Molybdenum Cofactor Deficiency, Complementation Group B
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum OMIM:252160
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Chronic diarrhea, Oral leukoplakia OMIM:613989
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum OMIM:252150
Chronic Graft Versus Host Disease
Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esophagus morpholo... ORPHA:99921
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Abnormal pelvic girdle bone morphology, Sinusitis, Growth arrest lines, Platyspondyly OMIM:102700
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Hepatic failure, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia OMIM:173650
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Decreased nerve conduction velocity, Abdominal d... OMIM:277900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix OMIM:263200
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnor... OMIM:154500
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... ORPHA:36426
Tetraamelia Syndrome 1
Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Hypoplastic pelvis, A... OMIM:273395
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Caroli Syndrome
Cholangiocarcinoma, Abdominal pain, Hematemesis, Esophageal varix, Abdominal rigidity, Melena, He... ORPHA:480520
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Esophagea... OMIM:301068
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
Immunodeficiency 23
Esophageal stricture, High palate OMIM:615816
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Antever... ORPHA:79318
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Feeding difficulties, Optic atrophy, Esophageal varix, Abdominal pain OMIM:615688
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Recurrent pharyngitis, Arthritis ORPHA:829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Esophageal varix, Feeding difficulties, Gastroesophageal reflux, High pal... OMIM:613658
Vacterl With Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Pla... ORPHA:93317
Craniofacial Microsomia 1
Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of... OMIM:164210
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Feeding difficulties, Protein-... ORPHA:731
Arima Syndrome
Optic atrophy, Esophageal varix OMIM:243910
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Inflammation of the... ORPHA:29207
Microphthalmia, Syndromic 3
Esophageal atresia, Optic nerve hypoplasia, Optic nerve aplasia OMIM:206900
Maternal Phenylketonuria
Esophageal atresia, High palate ORPHA:2209
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Gastric ulcer, Esophageal varix, Feeding difficulties ORPHA:2072
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cleft palate OMIM:308205
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Feeding difficulties ORPHA:95430
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Vomiting OMIM:176690
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Peroxisome Biogenesis Disorder 4B
Short nose, Macrocephaly OMIM:614863
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Malnutrition, Gastrointestinal inflammation, Gastroesophageal reflux, Dysphagia, Es... ORPHA:79408
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Optic atrophy, Oral leukoplakia, Anal mucosal leukoplakia OMIM:305000
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Malnutrition, Gastrointestinal inflammation, Constipation, Vomiting ORPHA:79404
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Increased head circumference OMIM:612301
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Esophageal atresia, High palate, Gast... ORPHA:506358
Lipodystrophy, Familial Partial, Type 7
Short nose, Narrow nasal ridge, Narrow mouth OMIM:606721
Charge Syndrome
Anal stenosis, Facial palsy, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding... OMIM:214800
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Abdominal distention, Ectopic anus, Bifid tongue, Anal atresia ORPHA:93271
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Esophageal varix, Abdominal distention OMIM:619534
Penile Agenesis
Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Short nose, An... ORPHA:49
Alström Syndrome
Gastroesophageal reflux, Hepatic failure, Esophageal varix, Optic disc pallor ORPHA:64
Iga Nephropathy, Susceptibility To, 3
OMIM:616818

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 Spry2

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 Spry2.

No publications found that use IMPC mice or data for Spry2.

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MGI Allele Allele Type Produced
Spry2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spry2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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