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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
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Hirschsprung Disease
Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nausea and ... ORPHA:388
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... OMIM:265900
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Unilateral cleft lip, Abnormal form of the vertebral bodies, Fin... ORPHA:1787
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, Dislocated radial head, High palate, Short me... OMIM:612350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Macrocephaly, Radial deviation of the 4th finger, Malar f... OMIM:608545
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth, Microcephaly, Clinodactyly of the 5th finger ORPHA:1094
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Dental malocclusion, Hyp... ORPHA:61
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il... ORPHA:1858
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Short distal phalanx of finger, Cone-shaped epiphysis, Long philtru... ORPHA:77258
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m... ORPHA:2501
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Aplastic clavicle, Osteop... OMIM:620099
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Relative macrocephaly, Anteverted nares, Long fingers, High palate, Mandibul... OMIM:618292
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Zimmermann-Laband Syndrome
Bifid uvula, Overtubulated long bones, Bulbous nose, Micrognathia, Wide mouth, Joint hypermobilit... ORPHA:3473
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Kyphoscoliosis, Microcephaly, Hallux valgus OMIM:615541
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Down... ORPHA:1327
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Abnormality of the dentition, Joint dislocation, Long philtrum, Thick nasal al... ORPHA:502
Maxillonasal Dysplasia
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Short distal phalanx of... ORPHA:1248
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... ORPHA:217340
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Inte... OMIM:613684
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Short toe, ... ORPHA:2980
Mcdonough Syndrome
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal... ORPHA:2471
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Kyphosis, Thick lower lip vermilion, Prominent nose, Hypop... OMIM:234250
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... ORPHA:2919
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi... ORPHA:71267
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Scoliosis, Dental malocclusion, Broad nasal tip, Lumbar hyperlordosis... OMIM:619719
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl... OMIM:615314
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami OMIM:141300
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad long bon... OMIM:269300
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Finger syndactyly, Abnormal diaphys... ORPHA:1515
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Kyphosis, Bulbous nose, Microdontia, Short sternum, Post... OMIM:258850
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth OMIM:190320
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l... OMIM:616331
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morp... ORPHA:3079
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu... OMIM:166750
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom... ORPHA:897
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Depressed nasal bridge, Epiphyseal dysplasia, Premature osteoarthritis, Anteverted... OMIM:184840
Three M Syndrome 2
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long ph... OMIM:612921
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica... OMIM:618363
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Supernumerary tooth, Mandib... ORPHA:627
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p... ORPHA:166272
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Hip dislocation, Short distal phalanx of finger, Kyphosis, Abnormal form ... ORPHA:3098
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Microcephaly, Everted lower lip vermil... ORPHA:1695
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Brachydactyly, Supernumerary tooth ORPHA:1264
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int... OMIM:613849
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe... ORPHA:3145
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Depressed nasal bridge, Prominent fingertip pads, Thick lower lip vermilion, Open mo... OMIM:617412
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly, Joint hypermobility 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
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Radial head subluxa... OMIM:601390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Persistence of primary teeth, Increased susceptibil... OMIM:619752
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hyperm... OMIM:619718
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Narrow mouth, Genu valgum, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum... OMIM:604757
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, Dislocated radial head, High palate, Cone-shaped epiphyses of the ... OMIM:210600
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Micrognathia, Wide mouth, Smooth philtrum, Prominent nasal ... OMIM:610883
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Genu recurvatum, Delayed erupti... ORPHA:137834
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Lowry-Maclean Syndrome
Delayed eruption of teeth, Microcephaly, Convex nasal ridge, Craniosynostosis, Cleft palate OMIM:600252
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Short neck, Abnormality of the knee, High pa... ORPHA:251028
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Op... ORPHA:1507
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Macrocephaly, Short... ORPHA:2429
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... ORPHA:2025
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Short neck, Short greater sciatic notch, Flat aceta... OMIM:256050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, Antevert... OMIM:617877
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Anteverted ... OMIM:618825
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, High, narrow p... OMIM:234100
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Narrow... ORPHA:2115
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... OMIM:610967
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Anodontia, Short neck, Hip disloca... ORPHA:3107
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Broad columella, Diastema, Underdeveloped nasal alae, Micrognathia, Malar fl... ORPHA:436245
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G... ORPHA:800
Pycnodysostosis
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence... OMIM:265800
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa... ORPHA:63442
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, High palate, Osteop... OMIM:615546
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Narrow mouth, Abno... ORPHA:2370
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of... OMIM:249420
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Underdeveloped nasal alae, Widely spaced teeth OMIM:616108
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Ab... OMIM:253250
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Hall-Riggs Syndrome
Platyspondyly, Wide nasal bridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Downt... ORPHA:2107
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Microcephaly, High palate, Scoliosis, Kyphosis, Short nose ORPHA:2598
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Micrognathia, Thin upper lip v... ORPHA:329178
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nasal bridge, Short distal phalanx of finger, Dental malocclusion, Underdeveloped nasal alae... OMIM:619293
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Dist... OMIM:617258
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Craniolenticulosutural Dysplasia
Carious teeth, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, Macrocephaly... OMIM:607812
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Micrognat... ORPHA:1388
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Widely spaced teeth, Prominent nose, Joint hypermobility, Taurodontia, Enamel ... OMIM:618205
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Chronic constipation OMIM:619465
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Short nose, Taurodon... ORPHA:819
Duplication Of The Pituitary Gland
Volvulus, Retrognathia, Abnormal odontoid process morphology, Thoracic scoliosis, Abnormality of ... ORPHA:314621
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Hip contracture, Short neck, High palate, Cleft lip, Knee flexion cont... OMIM:619110
Codas Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor... ORPHA:1458
Monosomy 5P
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Recurrent fractures, Joint h... ORPHA:281
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Wide nose, Hypo... OMIM:211380
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
49,Xxxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Radioulnar synostosis, Short neck, Hip dislocation, ... ORPHA:96264
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Short neck, Flattened e... OMIM:251450
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C... OMIM:112350
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Trisomy 4P
Abnormality of the dentition, Depressed nasal bridge, Carious teeth, Preaxial hand polydactyly, R... ORPHA:1738
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal... ORPHA:2631
48,Xxxy Syndrome
Depressed nasal ridge, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, E... ORPHA:96263
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyse... OMIM:620269
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Neopla... ORPHA:2869
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Narrow nasal bridge, Malar flatten... ORPHA:85172
Sclerosteosis 1
Wide nasal bridge, Tooth malposition, Depressed nasal bridge, Abnormal pelvic girdle bone morphol... OMIM:269500
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir... OMIM:601957
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Small hand, Congenital hip dislocation, Delayed eruption of teeth, Anteri... OMIM:268400
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... ORPHA:873
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Wide nasal bridge, High iliac wing, Coarse metaphyseal trabecul... ORPHA:2780
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Hip dislocation, V... OMIM:164200
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly, Dislocated radial head,... OMIM:182212
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ... ORPHA:1782
Osteoglosphonic Dysplasia
Choanal atresia, Abnormal form of the vertebral bodies, Tooth agenesis, Anteverted nares, Microgn... ORPHA:2645
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Anauxetic Dysplasia 3
Platyspondyly, Depressed nasal bridge, Broad middle phalanx of finger, Metaphyseal cupping, Retro... OMIM:618853
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... ORPHA:44890
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Beaking of vertebral bodies, Pierre... OMIM:215150
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Short neck, Everted lower lip vermilion, Short foot, Hypoplasia of... ORPHA:915
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Relativ... OMIM:616354
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Microcephaly, ... OMIM:619489
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Brachydactyly, ... OMIM:612463
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Abnormal dental mor... ORPHA:319195
Burkitt Lymphoma
Abdominal pain, Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction ORPHA:543
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Faciocardiomelic Syndrome
Depressed nasal bridge, Osteopenia, Dental malocclusion, Slender long bone, Long philtrum, Hyperp... OMIM:612731
Chst3-Related Skeletal Dysplasia
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irregular epiphy... ORPHA:263463
Hypochondroplasia
Depressed nasal bridge, Flared metaphysis, Macrocephaly, Lumbar hyperlordosis, Trident hand, Mala... OMIM:146000
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo... ORPHA:3353
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle... OMIM:601216
Distal Deletion 12Q
Overlapping toe, Micrognathia, Short neck, Duodenal atresia, High, narrow palate, Bulbous nose, M... ORPHA:96149
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... OMIM:252100
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, D... ORPHA:2831
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Non-m... ORPHA:2710
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Depressed ... ORPHA:2863
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Joint dislocation, Macrocephaly... ORPHA:582
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Flared metaphysis, Facial hyperostosis, Nasal congestio... OMIM:218400
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, An... OMIM:300602
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Retrognathia, Long philtrum, Clinodactyly, ... OMIM:615583
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Sacral dimple, Micrognathia, Prominent nasal bridge, Joint hyperm... OMIM:613544
Coffin-Siris Syndrome 3
Depressed nasal bridge, Long philtrum, Delayed eruption of permanent teeth, Anteverted nares, Joi... OMIM:614608
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Short neck, Short nose, Syndactyly, Cleft lip, Downturne... OMIM:616894
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Underdeveloped nasal alae, Thick upper lip vermilion, Macrodon... OMIM:617883
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Pierpont Syndrome
Broad nasal tip, Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Prominen... OMIM:602342
Acrocraniofacial Dysostosis
Broad thumb, Micrognathia, Genu valgum, Choanal atresia, Ulnar deviation of finger, Short 1st met... ORPHA:949
Nemaline Myopathy 9
Micrognathia, High palate, Scoliosis, Arthrogryposis multiplex congenita, Cleft palate OMIM:615731
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Radiation Proctitis
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... ORPHA:70475
Autosomal Recessive Stickler Syndrome
Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Micrognathia, Genu valgum, Ma... ORPHA:250984
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Unilambdoid synos... OMIM:618577
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Microgna... ORPHA:1426
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Malar flatt... OMIM:614524
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Macrocephaly, Short nose OMIM:613670
Rhizomelic Chondrodysplasia Punctata, Type 1
Depressed nasal bridge, Flared metaphysis, Micrognathia, Epiphyseal stippling, Malar flattening, ... OMIM:215100
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... ORPHA:420561
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Microcephaly, Thi... OMIM:618506
Oliver Syndrome
Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Camptodacty... ORPHA:2920
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... ORPHA:85184
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi... OMIM:619797
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... OMIM:259440
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Dental malocclusion, Flared metaphy... OMIM:608940
Hajdu-Cheney Syndrome
Micrognathia, Narrow mouth, Genu valgum, Fibular bowing, Absent frontal sinuses, Crowded carpal b... OMIM:102500
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Cri-Du-Chat Syndrome
Wide nasal bridge, Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip v... OMIM:123450
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Hypoplasia of the maxilla, Narrow nasal brid... ORPHA:1798
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Open bite, Micrognathia, Congenital pyloric atresia, Reduced bone mineral density,... ORPHA:2617
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Choanal atresia, Small hand, Natal tooth, Trac... ORPHA:2108
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Open mouth, Thin upper lip vermilion, Wide cranial suture... OMIM:619149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Wide nasal bridge, Abnormal epiphysis morphology, Downturned corners of mouth, Mic... ORPHA:93267
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Carious teeth, Prominent nose, Prominent nasal bridge, Abnormal pal... ORPHA:3270
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Prominent nose, Cutaneou... OMIM:203550
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Fibrochondrogenesis 1
Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Narrow mouth, ... OMIM:228520
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Anteve... OMIM:614378
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Cervical kyphosis, Tombstone-shaped proximal p... OMIM:108721
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebral bodies, Delayed eruption... ORPHA:50814
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla... ORPHA:94068
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Secondary microcephaly, Micrognathia, Thin upper lip vermilion, High pala... OMIM:615042
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Microcephaly, Lon... OMIM:613680
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac... OMIM:311200
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Arachnod... OMIM:265000
Peho-Like Syndrome
Retrognathia, Open mouth, Progressive microcephaly, Short nose, Tapered finger OMIM:617507
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra... OMIM:264180
Melnick-Needles Syndrome
Anisospondyly, Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Dela... ORPHA:2484
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Anal a... OMIM:300373
Au-Kline Syndrome
Overlapping toe, Open mouth, Thoracolumbar scoliosis, High palate, Short nose, Downturned corners... OMIM:616580
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Synostosis of carpal b... ORPHA:90650
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n... ORPHA:439822
Achondrogenesis
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Short neck, Macr... ORPHA:932
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... OMIM:616202
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Bowing of the arm, Micrognathia, Cleft palate, Bowing of t... OMIM:249710
Chime Syndrome
Abnormality of the dentition, Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the t... ORPHA:3474
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Dental crowding, Pathologic fracture, Joint stiffness, Mi... OMIM:614008
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Retrognathia, Abnormality of the nose, Malar flattening, Abnormal palate morpholog... ORPHA:1390
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Apl... ORPHA:2909
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Cleft soft palate, Micrognathia, Genu valgum, Metaphyseal dysplasia, A... ORPHA:93316
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Malar f... OMIM:219200
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Lumbar kyphoscoli... OMIM:156550
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Advanced ossification of carpal bones, Macrocephaly, Advance... OMIM:269250
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Short distal phalanx of finger, Osteopenia, Dental malocclusion, Selective tooth age... ORPHA:2959
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J... ORPHA:577
Taurodontism
Taurodontia OMIM:272700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intestinal... OMIM:243150
Achondrogenesis Type 1A
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Short neck, Shor... ORPHA:93299
3M Syndrome
Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow, Bulbous no... ORPHA:2616
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol... ORPHA:1133
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2050
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction OMIM:606764
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Thin upper lip vermilion, Smooth philtrum, Microcephaly, Joint contracture, Slender... OMIM:615419
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... OMIM:222600
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Malar flattening,... OMIM:118651
Flynn-Aird Syndrome
Carious teeth, Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteo... OMIM:136300
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Joint dislocation, Cartilage destruction ORPHA:2380
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Short neck, Abnormal metacarpal morp... ORPHA:818
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal... ORPHA:192
Hamamy Syndrome
Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Osteopenia, Neck pterygia, Th... OMIM:611174
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Sandal gap, Abn... ORPHA:2180
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, Th... OMIM:618727
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wide nasal bridge, Fractured radius, Osteopenia, Unilateral cleft lip, Flared meta... OMIM:616897
Acrofacial Dysostosis, Catania Type
Carious teeth, Prominent nose, Micrognathia, Malar flattening, Microcephaly, Brachydactyly, Short... OMIM:101805
Achondrogenesis Type 1B
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Short neck, Macr... ORPHA:93298
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Wide nose, Coronal craniosynostosis, Hypo... OMIM:614188
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of fing... ORPHA:1529
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Thick vermilion border, Thin vermilio... ORPHA:86818
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate morphology, Microcephaly, Sh... ORPHA:1495
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... OMIM:154780
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Impacted tooth, Microcephaly, Short neck,... ORPHA:236
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Arachnodactyly, Slender toe, Macrocephaly, High palate, Flexion contracture,... OMIM:310400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of prima... OMIM:618342
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Clinodactyly of the 5th finger, Do... OMIM:227330
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Short neck, Short nose, Wide nose, Slender finger, Down... ORPHA:391408
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Radial bowing, Slender long bone, Femoral b... OMIM:610915
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, N... OMIM:619356
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Macrocephaly, Micrognathia, Narrow... OMIM:620250
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Spinal canal stenosis, Anteverted nares, Malar fla... OMIM:614613
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... ORPHA:2769
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Joint stiffness, Microdontia, Thin upper lip vermilion, Smooth ph... ORPHA:1915
Marshall-Smith Syndrome
Choanal atresia, Retrognathia, Slender long bone, Anteverted nares, Gingival overgrowth, Open mou... ORPHA:561
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art... ORPHA:1856
Anonychia With Flexural Pigmentation
Carious teeth, Convex nasal ridge ORPHA:69125
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... ORPHA:633
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Joint hypermobility, Short philtrum, Hip dysplasia... OMIM:617991
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slend... ORPHA:444072
Takenouchi-Kosaki Syndrome
Flared nostrils, Wide nasal bridge, Dental malocclusion, Downturned corners of mouth, Long philtr... OMIM:616737
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Hi... OMIM:271665
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Hypopl... ORPHA:1786
Coffin-Siris Syndrome 2
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Long philtrum,... OMIM:614607
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Ovoid ver... OMIM:253010
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle... ORPHA:141152
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, Thoracic kyphoscoli... OMIM:618371
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bon... ORPHA:2347
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Spina bifida occulta, Short nose ORPHA:1514
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Abnormality of the calc... ORPHA:163966
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ... OMIM:614701
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, M... ORPHA:97360
Kabuki Syndrome 2
Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Prominent fingertip pads, De... OMIM:300867
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Abnormal form of ... ORPHA:3238
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Flattene... OMIM:271530
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Scoliosis, Recurrent frac... OMIM:126550
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Cole-Carpenter Syndrome 2
Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope... OMIM:616294
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Micrognathia, Decreased skull ossification, Smooth philt... OMIM:263210
Stickler Syndrome, Type I
Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora... OMIM:108300
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Depressed nasal bridge, Broad nasal tip, Shallow acetabular fossae, Lumbar hyperlo... ORPHA:1830
Trigonocephaly 1
High, narrow palate, Lumbar hemivertebrae, Wide nasal bridge, Meckel diverticulum, Long philtrum,... OMIM:190440
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Prominent nasal bridge, Oligodontia, Hypodo... OMIM:613823
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Vomiting, Diarrhea, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, High pala... OMIM:166250
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microcephaly, Rocker bottom foot, Arthrogryposis multiplex congenita, Cleft palate OMIM:616570
Infantile Myofibromatosis
Abnormal intestine morphology, Tracheoesophageal fistula, Intestinal obstruction ORPHA:2591
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai... ORPHA:97286
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, Malar flatte... OMIM:612813
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot... OMIM:129400
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Slender long bone, Micrognathia, Protrusio acetabuli, Bowing of limbs ... OMIM:259420
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Feeding ... ORPHA:411696
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal, Recta... OMIM:303600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Microcephaly, Short n... ORPHA:46
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Radioulnar synostosis, Broad na... OMIM:300166
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S... OMIM:607095
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, S... ORPHA:79345
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o... OMIM:255800
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Short neck, Flexion co... OMIM:193700
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth,... OMIM:277440
Cardiofaciocutaneous Syndrome 1
Open bite, Micrognathia, Open mouth, Short neck, High palate, Short nose, Hyperextensibility of t... OMIM:115150
Orofaciodigital Syndrome Type 14
Microretrognathia, Postaxial foot polydactyly, Lobulated tongue, Broad hallux, Hamartoma of tongu... ORPHA:434179
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology, Micrognathia... ORPHA:2849
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide nasal bridge, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, ... ORPHA:85321
Geroderma Osteodysplasticum
Periodontitis, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Irregular ve... OMIM:231070
Holoprosencephaly 9
Hypoplasia of the premaxilla, Bilateral cleft palate, Short hard palate, Short neck, Short nose, ... OMIM:610829
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contracture of f... OMIM:601812
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Wide nasal bridge, Conical tooth, Underdeveloped nasal alae, Widely spaced teeth, Prominent nose,... ORPHA:90024
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Noonan Syndrome 4
Depressed nasal bridge, Dental malocclusion, Macrocephaly, Wide mouth, Cubitus valgus, Short neck... OMIM:610733
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Hennekam Syndrome
Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Delayed eruption of t... ORPHA:2136
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate OMIM:304100
Waardenburg Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia... ORPHA:3440
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Flexion contracture, Depressed nasal tip, Syndactyly, Brachydactyly, Osteolysis inv... ORPHA:88630
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal OMIM:613382
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, High palate, Short nose, Bulbous nose, Oligodontia, Thin upper lip vermilion, Brach... OMIM:617061
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... ORPHA:1703
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... OMIM:609052
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, High palate, 2-5 toe syndactyly, Hip... OMIM:206920
Phelan-Mcdermid Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Widely spaced teeth, Bulbous nose, Microgn... OMIM:606232
Pseudodiastrophic Dysplasia
Platyspondyly, Elbow dislocation, Malar flattening, Phalangeal dislocation, Scoliosis ORPHA:85174
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... OMIM:615777
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Macroglossia, Relative macr... OMIM:614450
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:376
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Short 5th finger, Broad nasal tip, Abnormality of t... OMIM:239800
Short Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, U... OMIM:269880
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Bowing of the l... OMIM:619795
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Femoral ... OMIM:614856
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Hypoplasia of the odontoid process, Short neck, Flattened epiphysis, High palate, Broad nasal tip... OMIM:300232
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Cone-shaped epiphysis, Aplasia of the epiglottis, Median cleft upper lip,... OMIM:617088
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Short toe, Pro... OMIM:619269
Crisponi/Cold-Induced Sweating Syndrome 1
Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, E... OMIM:272430
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Toe syndactyly, Postaxial foot polydactyly, Macrocephaly, M... OMIM:241800
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Hip dysplasia, Flexion contracture, Scoliosis, Short nose OMIM:618379
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Small hand, Broad nasal tip, Toe syndactyly, Retrognathia, Downturned cor... OMIM:300882
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Microcephaly, High palate, Scoliosis, Short nose ORPHA:1913
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Abnormal hip bone morphology, Micrognathia, Abnormal lower lip morphology, Joint ... ORPHA:1166
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum,... ORPHA:666
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Clinodactyly, Trache... OMIM:217980
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Wide distal femoral... OMIM:613320
Geroderma Osteodysplastica
Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr... ORPHA:2078
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Narrow mouth, Short neck, Clinodactyly of the 5th finger, High palate... ORPHA:217385
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Joint stiffness, Prominent nasal bridge, Bicoronal syn... OMIM:619184
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Microcephaly, ... ORPHA:261144
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin u... OMIM:613604
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Garg-Mishra Progeroid Syndrome
Platyspondyly, Dental crowding, Slender long bone, Persistent open anterior fontanelle, Slender m... OMIM:620601
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Osteopenia, Widely patent corona... ORPHA:2409
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Metatropic Dysplasia
Depressed nasal bridge, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Co... ORPHA:2635
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Isotretinoin Syndrome
Depressed nasal bridge, Sacral dimple, Micrognathia, Spina bifida occulta, Biparietal narrowing, ... ORPHA:2305
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Prominent metopic ridge ORPHA:85317
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Short... OMIM:305400
Even-Plus Syndrome
Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, Hypo... OMIM:616854
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Clinodactyly of the 5th finger, Broad philtrum, Pro... ORPHA:502430
X-Linked Hypohidrotic Ectodermal Dysplasia
Depressed nasal ridge, Short distal phalanx of finger, Everted upper lip vermilion, Delayed erupt... ORPHA:181
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Anteverted nares, Micrognathia, Na... ORPHA:251019
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Microcephaly, ... ORPHA:398156
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Short toe, Delayed eruption of teeth, Short finger, Short neck, Enamel hy... OMIM:103580
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Thoracic scoliosis, Oligo... OMIM:600325
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Bowing of the arm, Biconcave vertebral ... OMIM:301014
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Spermatogenic Failure 81
Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia OMIM:620277
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Depressed nasal bridge, Wide nasal bridge, Short finger, Anteverted nares, Scleros... OMIM:313420
Arthrogryposis, Distal, Type 12
Spinal rigidity, Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowdin... OMIM:620545
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Micrognathia, Short colu... ORPHA:171839
Intellectual Disability, Birk-Barel Type