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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
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... OMIM:155050
Hirschsprung Disease, Susceptibility To, 1
Constipation, Enterocolitis, Abdominal distention, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... ORPHA:388
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh... ORPHA:1452
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... OMIM:613684
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... OMIM:612350
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Microcephaly, Clinodactyly of the 5th finger, Carious teeth ORPHA:1094
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal vertebral morpholo... ORPHA:2015
Acrofacial Dysostosis, Palagonia Type
Bulbous nose, Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathi... ORPHA:1787
Larsen-Like Syndrome
Dental malocclusion, Kyphoscoliosis, Wide anterior fontanel, Joint dislocation, Clinodactyly of t... OMIM:608545
Alpha-Mannosidosis
Dental malocclusion, Kyphosis, Gingival overgrowth, Narrow palate, Macrocephaly, Macroglossia, Op... ORPHA:61
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Abnormality of the dentition, Scol... ORPHA:1858
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Kyphoscoliosis, Anodontia, Supernumerary tooth, Narrow palate, ... OMIM:264475
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Supern... ORPHA:77258
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita OMIM:615731
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Relative macrocephaly, Long fingers, Tapered finger, Anteverted... OMIM:618292
Trichorhinophalangeal Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Supernumerary tooth, Joint disl... ORPHA:502
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Short philtrum, Abno... ORPHA:217340
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glossoptosi... OMIM:614669
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... ORPHA:3473
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... ORPHA:1327
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Microcephaly, Hallux valgus, Prominent nose OMIM:615541
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Thin vermilion border, Short ... OMIM:156510
Mcdonough Syndrome
Dental malocclusion, Kyphosis, Open bite, Micrognathia, Short philtrum, Scoliosis, Prominent nose... ORPHA:2471
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Depr... ORPHA:1248
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Episodic abdominal pain, Abnormal autonomic nervous system physiology, Intestinal malrotation, Vo... OMIM:243180
Acrootoocular Syndrome
Dental malocclusion, Kyphoscoliosis, Anodontia, Supernumerary tooth, High, narrow palate, Short t... ORPHA:2980
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Hyp... OMIM:234250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Platyspondyly, Short neck, Ani... ORPHA:163649
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Depressed nasal bridge, Scoliosis, Del... OMIM:613849
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Broad long bones, Sclerosis of skull base, Macrocephaly, Mal... OMIM:269300
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br... OMIM:119600
Orofaciodigital Syndrome Type 5
High, narrow palate, Scoliosis, Postaxial hand polydactyly, Non-midline cleft lip, Agenesis of ca... ORPHA:2919
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption... ORPHA:71267
Craniosynostosis 3
Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Left unicoronal synostosis, Right ... OMIM:615314
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Wide mouth, Clinodactyly of the 5th finger, Microcephaly, Cario... OMIM:249630
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, Tr... OMIM:616583
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia OMIM:190320
Orofaciodigital Syndrome Iii
Kyphosis, Bulbous nose, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdonti... OMIM:258850
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Broad nasal tip, Congenital hip dislocation, Scoliosis... OMIM:619719
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla... OMIM:601561
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Reduced bone mineral... ORPHA:3079
Waardenburg-Shah Syndrome
Constipation, Abdominal pain, Intestinal obstruction, Abnormal intestine morphology, Aganglionic ... ORPHA:897
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Otodental Dysplasia
Agenesis of premolar, Taurodontia, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... OMIM:616331
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... ORPHA:763
Nance-Horan Syndrome
Supernumerary tooth, Abnormality of the dentition, Prominent nose, Mandibular prognathia, Promine... ORPHA:627
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Prominent nasal tip, Relative macrocephal... OMIM:612921
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon... ORPHA:166272
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspondyly, Delayed eruption... OMIM:184260
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Abnormality of the dentition, Oligodontia, Brachydactyly, Short 5th metacarpal ORPHA:1264
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Delayed cranial suture cl... ORPHA:1832
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Wide anterior fontanel, Hypodontia, Recurrent mandi... OMIM:225410
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... ORPHA:3098
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor... OMIM:190350
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... ORPHA:1695
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of... ORPHA:3145
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... OMIM:604757
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Depressed nasa... OMIM:617412
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Microretrognathia OMIM:218010
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Brachydactyly, High, narrow palate, Joint laxity OMIM:619692
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Supernumerary tooth, Persistence of primary teeth, Recurrent upper respiratory tract... OMIM:619752
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Agenesis of molar, Supernumerary tooth, Osteopenia, Scoliosis, Microdontia, Diastema, O... OMIM:619718
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Wide mouth, Gingival overgrowth, Premature loss of teeth, ... ORPHA:137834
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:601390
Hypochondroplasia
Lumbar hyperlordosis, Macrocephaly, Malar flattening, Flared metaphysis, Brachydactyly, Genu varu... OMIM:146000
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Muenke Syndrome
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Macrocephal... OMIM:602849
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver... OMIM:615546
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Micrognathia, Short neck, Diastema, Brachydactyly, Broad c... ORPHA:436245
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Wide mouth, Macrocephaly, Everted lower lip vermilion, Short philtrum, Scoliosis, Short... ORPHA:2429
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Abnormal metaphysis morphology, Irregular ... ORPHA:93316
48,Xxyy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Cleft palate, Open bite, Scoliosis, Delayed eruption... ORPHA:10
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, Slender finger, Cleft palate, Abnormality of the dentition, Short phil... ORPHA:251028
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Depressed nasal brid... ORPHA:2025
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Sandal gap, Select... OMIM:210600
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Cleft palate, Malar flattening, Depressed nasal bridge, Platyspondyly, Enla... OMIM:184840
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Micrognathia, Short philtrum, Furrowed tongue, Prominent nos... OMIM:248950
Fibromatosis, Gingival, With Distinctive Facies
High palate, Macrocephaly, Persistence of primary teeth, Everted lower lip vermilion, Depressed n... OMIM:228560
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Lowry-Maclean Syndrome
Convex nasal ridge, Cleft palate, Craniosynostosis, Microcephaly, Delayed eruption of teeth OMIM:600252
Autosomal Recessive Robinow Syndrome
Wide mouth, Macrocephaly, Abnormality of the dentition, Short philtrum, Short neck, Depressed nas... ORPHA:1507
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... OMIM:619736
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Macrocephaly, Low hanging columella, Long philtrum, Scoliosis, Delayed e... OMIM:618825
Harrod Syndrome
High palate, Kyphosis, Dental malocclusion, Narrow mouth, Arachnodactyly, Long nose, Microcephaly... ORPHA:2115
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Spondylolisthesis, Hypodontia, Increased bone minera... OMIM:265800
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Malar flattening, Increased intervertebr... OMIM:256050
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hallermann-Streiff Syndrome
High palate, Decreased number of sternal ossification centers, Selective tooth agenesis, High, na... OMIM:234100
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Glossoptosis, Micrognathia, Anteri... OMIM:602483
Desmoid Tumor
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Intestinal polyposis, Gast... ORPHA:873
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... ORPHA:93359
Hall-Riggs Syndrome
Wide mouth, Joint stiffness, Microcephaly, Platyspondyly, Scoliosis, Delayed eruption of teeth, B... ORPHA:2107
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Osteogenesis Imperfecta, Type V
Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati... OMIM:610967
Autosomal Dominant Robinow Syndrome
Macrocephaly, Hemivertebrae, Short philtrum, Short neck, Depressed nasal bridge, Short nose, Medi... ORPHA:3107
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... ORPHA:800
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... ORPHA:950
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Delayed cranial suture closure, Osteopenia, Scoliosis, Delay... OMIM:601812
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Frank-Ter Haar Syndrome
High palate, Wide mouth, Osteopenia, Broad nasal tip, Depressed nasal bridge, Bowing of the long ... OMIM:249420
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Micrognathia, Osteopenia, Scoliosis, Deep philtrum, Short nose,... ORPHA:329178
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide mouth, Short philtrum, Microdontia, Tapered finger, Short distal phalanx of finger, Clinodac... OMIM:619293
Mulibrey Nanism
Dental malocclusion, Hypodontia, Depressed nasal bridge, Thickened cortex of long bones, Enamel h... OMIM:253250
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Platyspondyly, ... OMIM:251450
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita OMIM:608931
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Micrognathia, Microcephaly, Long philtrum, Scoliosis, Short nose ORPHA:2598
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Wide mouth, Prominent nasal tip, Micrognathia, Microcephaly, Sc... OMIM:610883
Craniofaciofrontodigital Syndrome
Dental malocclusion, Hypoplastic vertebral bodies, Macrocephaly, Abnormality of the dentition, De... OMIM:114620
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Scoliosis, Abnormal form of the vertebral bod... ORPHA:1458
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Everted lower lip verm... OMIM:617877
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microcephaly, Cam... OMIM:618761
Duplication Of The Pituitary Gland
Abnormality of joint mobility, Wide mouth, Abnormality of the tongue, Thoracic scoliosis, Supernu... ORPHA:314621
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly, Micro... ORPHA:3352
Dysosteosclerosis
Irregular vertebral endplates, Abnormal dental enamel morphology, Recurrent fractures, Hypoplasti... ORPHA:1782
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Chronic constipation OMIM:619465
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Cleft palate, Malar flattening, Glossoptosis, Mi... ORPHA:1388
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Abdominal pain, Stomach cance... ORPHA:2869
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Small hand, Microcephaly, Short neck, Scolio... ORPHA:281
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Trisomy 4P
Abnormality of the dentition, Camptodactyly of finger, Short neck, Scoliosis, Radial club hand, P... ORPHA:1738
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Relative macrocephaly, Macroglossia, Long philtrum, Scoliosis, Dela... OMIM:616354
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... ORPHA:2831
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Malar flattening, Small h... ORPHA:85172
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Osteoglosphonic Dysplasia
Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Scoliosis, Abnormal f... ORPHA:2645
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Elsahy-Waters Syndrome
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... OMIM:211380
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Broad nasal tip, Depr... OMIM:101800
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Slender finger, Cleft palate, Abnormal hip bone mor... ORPHA:916
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... ORPHA:53697
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Macrocephaly, Cleft palate, Osteopenia, Delayed eruption of teeth, Cario... OMIM:607812
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... ORPHA:44890
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density... ORPHA:2780
49,Xxxxy Syndrome
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Short neck, Down-sloping shoulders, ... ORPHA:96264
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip vermilion, Ope... ORPHA:819
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... ORPHA:2631
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, De... OMIM:269500
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Hypopla... OMIM:257850
Rothmund-Thomson Syndrome, Type 2
High palate, Kyphoscoliosis, Supernumerary tooth, Small hand, Micrognathia, Depressed nasal bridg... OMIM:268400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Scoliosis, Joint contracture of ... OMIM:617258
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Ename... OMIM:612463
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... OMIM:601957
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
48,Xxxy Syndrome
Taurodontia, Clinodactyly of the 5th finger, Azoospermia, Cleft palate, Open bite, Depressed nasa... ORPHA:96263
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain ORPHA:543
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Microcephal... OMIM:619489
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Craniosynostosis, Osteopenia, Genu valgum, Hypoplasia of the maxilla, Genu recurvatu... OMIM:182212
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Macrocephaly, Short neck, Long phil... OMIM:157980
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Abnormal form of the vertebral b... ORPHA:263463
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of teeth, Hypoplasia of ... ORPHA:915
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt... OMIM:612731
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Bulbous nose, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsa... OMIM:215150
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Micrognathia, Fractures of... ORPHA:319195
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... OMIM:614078
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Supernumerary tooth, Abnormal hip bone morphology, Scoliosis, Delayed eruption of... ORPHA:3353
Hajdu-Cheney Syndrome
High palate, Foot acroosteolysis, Osteopenia, Short neck, Biconcave vertebral bodies, Osteolytic ... OMIM:102500
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Retrognathia, Femoral b... OMIM:618853
Distal Monosomy 12Q
Bulbous nose, Macrocephaly, Short neck, Pyloric stenosis, Broad hallux, Clinodactyly of the 5th f... ORPHA:96149
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral... ORPHA:2790
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Mucopolysaccharidosis Type 4
Wide mouth, Macrocephaly, Abnormality of the dentition, Platyspondyly, Short neck, Carious teeth,... ORPHA:582
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed... ORPHA:261120
Oculodentodigital Dysplasia
Cleft palate, Microdontia, Carious teeth, Selective tooth agenesis, Cleft upper lip, Thin antever... OMIM:164200
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300602
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials OMIM:600501
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Coffin-Siris Syndrome 3
Wide mouth, Macroglossia, Depressed nasal bridge, Microcephaly, Scoliosis, Aplasia/Hypoplasia of ... OMIM:614608
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Microcephaly, Macrodontia, Antever... OMIM:617883
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Macrocephaly, Patchy sclerosis of finger phalanx, Bony paranasal bossing, ... OMIM:218400
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Micrognathia, Camptodactyly of finger, Depressed nasal... ORPHA:2863
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Mohr Syndrome
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tongue, Tongue nodu... OMIM:252100
Oculodentodigital Dysplasia
Cleft palate, Carious teeth, Short nose, Abnormal metaphysis morphology, Mandibular prognathia, A... ORPHA:2710
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Progressive interverte... ORPHA:1716
Acromicric Dysplasia
Abnormality of femur morphology, Narrow mouth, Fifth metacarpal with ulnar notch, Joint stiffness... ORPHA:969
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Short foot, C... OMIM:300577
Multicentric Osteolysis, Nodulosis, And Arthropathy
Bulbous nose, Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin metacarpal cortices,... OMIM:259600
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Platyspondy... ORPHA:1427
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Microcephaly, Clinodactyly, Anteverted nares OMIM:618506
Budd-Chiari Syndrome
Malabsorption, Abdominal pain, Acute hepatic failure, Peritonitis, Intestinal obstruction, Gastro... ORPHA:131
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wide anterior fontanel, Macrocephaly, Coxa valga, Increased bone mineral density, Ma... ORPHA:85184
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Herniation of intervertebra... OMIM:601216
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Craniosynostosis, Femoral bowing, Osteopenia, Platyspondyly, S... OMIM:616723
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Triangular mouth, Cleft palate, Depressed nasal bridge, Short neck, Short nose, Ant... OMIM:616894
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,... ORPHA:949
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Thin vermilion border, Microg... OMIM:214150
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Malar flattening, Micrognathia... ORPHA:250984
Oliver Syndrome
High palate, Dental malocclusion, Short toe, Clinodactyly of the 5th finger, Prominent fingertip ... ORPHA:2920
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Sco... OMIM:147060
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Broad finger, Short phalanx of finger, Sup... OMIM:302350
Fibrochondrogenesis 2
Metaphyseal cupping, Malar flattening, Micrognathia, Hypoplastic ilia, Platyspondyly, Metaphyseal... OMIM:614524
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ... OMIM:311300
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300431
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Abnormality of the d... ORPHA:457395
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... OMIM:259440
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thorac... OMIM:203550
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Cleft palate, Malar flattening, Flexion contracture, Micrognathia, Flared metaphy... OMIM:215100
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Malar flattening, Everted lower lip vermilion, Thin ve... OMIM:602342
Hallermann-Streiff Syndrome
Recurrent fractures, Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow p... ORPHA:2108
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon OMIM:304100
Temple-Baraitser Syndrome
High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ... ORPHA:420561
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Abnormality of the vertebral column... OMIM:201050
Achondrogenesis
Macrocephaly, Micrognathia, Short neck, Long philtrum, Abnormality of bone mineral density, Short... ORPHA:932
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Short philtrum, Short neck, Anterior open-bite malocclusion, Scol... OMIM:123450
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Platyspondyly, Carious teeth, Genu... OMIM:253010
Dysostosis, Stanescu Type
Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi... ORPHA:1798
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... ORPHA:439822
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Ulnar deviation of the wrist, Sho... OMIM:618577
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Macrocephaly, Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth OMIM:613670
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Platyspondyly, Short neck, Downturned corners of mouth, Abnormal ep... ORPHA:93267
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Macrocephaly, Abnormality of the dentition, Radioulnar synostosis, Carious teeth, Prominent nose,... ORPHA:3270
Saul-Wilson Syndrome
Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... OMIM:618150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Dentinogenesis Imperfecta
Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Joint hypermobility, Gener... ORPHA:49042
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Convex nasal ridge, Open bite, Reduced bone mineral dens... ORPHA:2617
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebr... OMIM:253000
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Cleft palate, Short long bone, Costal cart... OMIM:222600
Fibrochondrogenesis 1
Cleft palate, Depressed nasal bridge, Platyspondyly, Short neck, Short nose, Dumbbell-shaped long... OMIM:228520
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Abnormality of the crus of the helix, Macrocephaly, Cleft pala... ORPHA:137888
Achondrogenesis Type 1A
Recurrent fractures, Macrocephaly, Micrognathia, Short neck, Long philtrum, Short nose, Short foo... ORPHA:93299
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Narrow mouth, Wide anterior fontanel, Malar flattening, Microcephaly, Congenital hip... OMIM:219200
Rothmund-Thomson Syndrome
Selective tooth agenesis, Supernumerary tooth, Reduced bone mineral density, Abnormality of the d... ORPHA:2909
Temple Syndrome
High palate, Relative macrocephaly, Cleft palate, Flexion contracture, Small hand, Micrognathia, ... OMIM:616222
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Scoliosis, Thin upper lip vermilion, Short nose, Congenital contractur... OMIM:615042
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Scolios... ORPHA:50814
Osteopathia Striata With Cranial Sclerosis
High palate, Macrocephaly, Cleft palate, Delayed closure of the anterior fontanelle, Thick lower ... OMIM:300373
Femoral-Facial Syndrome
Vertebral segmentation defect, Preaxial foot polydactyly, Coxa vara, Aplasia/Hypoplasia of the ti... ORPHA:1988
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Taurodontia, Thin vermilion border, Cutaneous finger syndactyly, ... OMIM:614378
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Abnormality of the dentition, Osteopenia, Platyspondyly, Biconcave vertebral bodies... OMIM:271510
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... OMIM:616202
Orofaciodigital Syndrome I
High palate, Cleft palate, Lobulated tongue, Carious teeth, Tongue nodules, Ankyloglossia, Cleft ... OMIM:311200
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, G... ORPHA:94068
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Low hanging columella, Micrognathia, Long nose... OMIM:613680
Taurodontism
Taurodontia OMIM:272700
Achondrogenesis Type 1B
Macrocephaly, Micrognathia, Short neck, Long philtrum, Short nose, Short foot, Anteverted nares, ... ORPHA:93298
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hem... OMIM:243150
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Malan Syndrome
Gingival overgrowth, Narrow mouth, Macrocephaly, Everted lower lip vermilion, Retrognathia, Scoli... OMIM:614753
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Malar flattening, Micrognathia, Tongue-like lumbar vertebral deformities, S... OMIM:264180
Gastrointestinal Stromal Tumor
Intestinal obstruction, Dysphagia, Constipation, Gastrointestinal stroma tumor OMIM:606764
Lessel-Kreienkamp Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Wide cranial sutures, Open mouth, Thin upper... OMIM:619149
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Carious teeth, Inc... OMIM:136300
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Brachydactyly, Carious teeth, Abnormality of the elbow, Deep philtrum, Sho... ORPHA:2701
Diastrophic Dysplasia
Macrocephaly, Cleft palate, Depressed nasal bridge, Symphalangism affecting the phalanges of the ... ORPHA:628
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Rocker bottom foot OMIM:616570
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Malar flattening, Thin vermilion border, Depressed nasal bridge, Tapered fin... ORPHA:86818
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Anal atresia, Overlapping toe, Velopharyngeal ins... ORPHA:363444
Apert Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Delayed eruption of... OMIM:101200
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Horizontal sacrum, Depressed nasal bridge, Short nose, Absent frontal sinuses, Sacra... OMIM:211910
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Abnormal nasal morphology, Scoliosis, Advanced e... ORPHA:1133
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Dental malocclusion, Multiple joint contractures, Thoracic scolio... ORPHA:2959
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Malar flattening, Retrognathia, Down-sloping shoulders, Scoliosis... ORPHA:1390
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Bulbous nose, Macrocephaly, Malar flattening, Hemivertebrae, Depressed nasal bridge,... ORPHA:2180
Short Syndrome
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... OMIM:269880
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndactyly ORPHA:1514
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
3M Syndrome
Bulbous nose, Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of th... ORPHA:2616
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Knee dislocation, Malar flattening, Cleft palate, Horizontal sacrum... OMIM:108721
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Hypodontia, Flexion contracture, Microcephaly, Carious teeth OMIM:612079
Chime Syndrome
Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, D... ORPHA:3474
Hamamy Syndrome
High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl... OMIM:611174
Familial Osteodysplasia, Anderson Type
Bulbous nose, Depressed nasal ridge, Long nose, Carious teeth, Mandibular prognathia, Abnormal co... ORPHA:2769
Marshall-Smith Syndrome
Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral density, Scoliosis, Sle... ORPHA:561
Coffin-Lowry Syndrome
High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance... ORPHA:192
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Everted lower lip vermi... ORPHA:884
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... OMIM:170390
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Everted lower li... OMIM:618342
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Short philtrum, Short neck, Down-sloping shoulders, Short nose, Primary microceph... ORPHA:391408
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Platysp... OMIM:154780
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Micrognathia, Scoliosis, Delayed eruption of teeth, Abnormal form ... ORPHA:2050
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Microcephaly, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Dental malocclusion, Wide mouth, Narrow palate, Clinodactyly of the 5th finger, Down... OMIM:227330
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Joint dislocation ORPHA:2380
Peho-Like Syndrome
Retrognathia, Short nose, Progressive microcephaly, Open mouth OMIM:617507
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Radial bowing, Recurr... OMIM:610915
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Cleft palate, Abnormal hip bone morphology, Reduced bone miner... ORPHA:577
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Impacted tooth, Abnormal nasal morphology, Short neck, ... ORPHA:236
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Macrocephaly, Narrow vertebral i... OMIM:269250
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Cleft palate, Retrognathia, Micrognathia, Camptodactyly of finger, Bowing of ... OMIM:249710
Acromicric Dysplasia
Narrow mouth, Fifth metacarpal with ulnar notch, Bulbous nose, Short metacarpal, Cone-shaped epip... OMIM:102370
Craniosynostosis And Dental Anomalies
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... OMIM:614188
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Micrognathia, Camptodactyly of finger, Microcephaly, Short nose, Abnormal palate mo... ORPHA:1495
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Depressed nasal ridge, Short tibia, Short 3rd metacarpal, Short 2nd metacarpal,... OMIM:118651
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Short neck, Advanced eruption of teeth, Ulnar deviation of finger, Pylo... ORPHA:818
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Narrow mouth, Short distal phalan... OMIM:619356
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Macrocephaly, Cleft palate, Recurrent uppe... OMIM:300209
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Macrocephaly, Abnormal cartilage matrix, Cl... ORPHA:2347
Laron Syndrome
Short toe, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Microgna... ORPHA:633
Carney-Stratakis Syndrome
Abdominal pain, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia, Gastrointestina... ORPHA:97286
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis, Carious ... OMIM:126550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Malar flattening, Oligodon... OMIM:618727
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion, Macrocephaly, Flexion contracture, Arachnodactyly, Pyloric sten... OMIM:310400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Slender nose, Micrognathia, Microcephaly, Scoliosis, Short nose, Thin upper lip vermi... OMIM:615419
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Malar flattening, Micrognathia, Anisospondyly, Bowing of the long bones, Short long... OMIM:224410
Fetal Alcohol Syndrome
Vertebral segmentation defect, Joint stiffness, Cleft palate, Micrognathia, Microcephaly, Microdo... ORPHA:1915
Infantile Myofibromatosis
Intestinal obstruction, Tracheoesophageal fistula, Abnormal intestine morphology ORPHA:2591
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Abnormal intestine mor... OMIM:226300
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Relative macrocephaly, Triangular mouth, Micrognathia, Abnormality of the de... OMIM:618529
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Depressed nasal ridge, Micrognathia, Short philtrum, Platyspondyly, Metaphyseal cuppi... ORPHA:163966
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Tapered finger, ... OMIM:617991
Kniest Dysplasia
Enlarged joints, Cleft palate, Depressed nasal bridge, Platyspondyly, Short neck, Hypoplastic pel... OMIM:156550
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... OMIM:156530
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Short femur, Adducted thumb, Micrognathia, Flared metap... OMIM:616897
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Irre... ORPHA:1856
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Malar flattening, Depressed nasal bridge, Cone-shaped epiphysis, Brachydac... OMIM:614613
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Radioulnar synostosis, Short nose, Enamel agenesis, Clinodactyly of ... OMIM:614701
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Platyspondyly, Short neck, ... OMIM:166250
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Joint stiffness, Microretrognathia, Convex nasal ridge, Flexion contracture,... OMIM:614008
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... OMIM:603463
Coffin-Siris Syndrome 2
High palate, Wide mouth, Short distal phalanx of finger, Cleft palate, Macroglossia, Depressed na... OMIM:614607
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Radioulnar synostosis, Hypoplasia of the ulna, Short no... ORPHA:3258
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Anauxetic Dysplasia 1
Platyspondyly, Short neck, Microdontia, Small epiphyses, Cervical subluxation, Mandibular prognat... OMIM:607095
Robinow Syndrome
Dental crowding, Macrocephaly, Triangular mouth, Hemivertebrae, Broad nasal tip, Depressed nasal ... ORPHA:97360
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Acrofacial Dysostosis, Catania Type
Microcephaly, Short palm, Spina bifida occulta, Carious teeth OMIM:101805
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Hemiver... OMIM:268310
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Hypoplasia of the maxilla,... ORPHA:79345
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Convex nasal ridge, Narrow greater sciatic notch, Flexion contracture, Re... OMIM:263210
Takenouchi-Kosaki Syndrome
Flared nostrils, Dental malocclusion, Wide mouth, Overlapping toe, Bulbous nose, Progressive micr... OMIM:616737
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Hypodontia, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Short n... ORPHA:1830
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Short nose, Rocker bottom fo... OMIM:193700
Waardenburg Syndrome
Intestinal obstruction, Abnormality of the gastrointestinal tract, Aganglionic megacolon, Aplasia... ORPHA:3440
Stickler Syndrome, Type I
Cleft palate, Depressed nasal bridge, Platyspondyly, Joint stiffness, Spondylolisthesis, Microgna... OMIM:108300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Scoliosis, Tapered finger, Long fingers, Sh... OMIM:218000
Pseudodiastrophic Dysplasia
Malar flattening, Platyspondyly, Scoliosis, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Subperiosteal bon... OMIM:277440
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Microretrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Small hand,... ORPHA:1786
Brachydactyly, Type E2
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal OMIM:613382
Osteogenesis Imperfecta, Type Iv
Kyphosis, Otosclerosis, Recurrent fractures, Dentinogenesis imperfecta, Femoral bowing present at... OMIM:166220
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Depressed nasal bridge, Congenital hip dislocation, Tapered finger, Genu valgum, Shor... OMIM:616007
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Hypoplastic acetabulae, Metaphyseal irregularity, Multicen... OMIM:607326
Perlman Syndrome
Macrocephaly, High, narrow palate, Retrognathia, Micrognathia, Wide nasal bridge, Abnormality of ... ORPHA:2849
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Cardiofaciocutaneous Syndrome 1
High palate, Bulbous nose, Macrocephaly, Abnormality of the dentition, Osteopenia, Short neck, De... OMIM:115150
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Macrocephaly, Dentinogenesis imperfecta, Microretrognathia, Coronal cranio... OMIM:616294
Hypothyroidism, Congenital, Nongoitrous, 6
Relative macrocephaly, Macroglossia, Congenital hip dislocation, Wormian bones, Delayed eruption ... OMIM:614450
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Periodontitis, Tibial... OMIM:231070
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Hypodontia, Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, P... ORPHA:90024
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Relative macrocephaly, Malar flattening, Metaphyseal widening, Platyspondyl... OMIM:612813
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... OMIM:619795
Kabuki Syndrome 2
High palate, Dental malocclusion, Hypodontia, Cleft palate, Prominent fingertip pads, Micrognathi... OMIM:300867
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Platyspondyly, Short neck, Congenital hip dislocation, Anterior bowing ... OMIM:255800
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Macrocephaly, Depressed nasal bridge, Short neck, Scoliosis, Cub... OMIM:610733
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Malar flattening, P... ORPHA:2078
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor... OMIM:201000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Short neck, Cone-shaped capi... OMIM:300232
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Bulbous nose, Supernumerary tooth, Microretrognathia, Cleft palate, Micr... ORPHA:434179
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... OMIM:619269
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Accessory oral frenulum, Short clavicles, Supernumerary tooth, Hypodontia, Postaxial polydactyly,... OMIM:617088
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Bulbous nose, Macroglossia, Everted lower lip vermilion, Depressed nasal bridge, Promin... ORPHA:261144
Phelan-Mcdermid Syndrome
High palate, Dental malocclusion, Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyl... OMIM:606232
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Osteopenia, Broad nasal tip, Sagittal craniosynostosis, Open mout... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Osteopenia, Broad nasal tip, Sagittal craniosynostosis, Open mout... ORPHA:352665
Pallister-Hall-Like Syndrome
Macrocephaly, Cleft palate, Micrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Sho... OMIM:241800
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Sponastrime Dysplasia
Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the... ORPHA:93357
Hennekam Syndrome
Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Narrow mouth, Malabsorption, Craniosyno... ORPHA:2136
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Depressed nasal bridge, Platyspondyly, Short neck, Small epiphyses, Short long bone, ... OMIM:611717
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Microcephaly, Long philtrum, Short nose, Anteverted nares, Thin upper li... ORPHA:46
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Kyphoscoliosis, Narrow mouth, Adducted thumb, Retrognathia, Micrognathia, Depressed ... OMIM:272430
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Depressed nasal bridge, Short philtrum, Tapered finger, Short nose, Sa... OMIM:617061
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... OMIM:608156
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Ohdo Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion border, Micrognathia, Depressed nasa... OMIM:249620
Osteogenesis Imperfecta
Abnormality of femur morphology, Macrocephaly, Abnormality of the dentition, Femoral bowing, Oste... ORPHA:666
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168811
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... ORPHA:2198
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Osteolysis, Abnormal dental enam... ORPHA:3019
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Prominent nose, Vertebral fusion OMIM:221950
Hyperimmunoglobulinemia D With Periodic Fever
Abdominal pain, Peritonitis, Diarrhea, Intestinal obstruction, Recurrent aphthous stomatitis, Gas... ORPHA:343
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Depressed nasal bridge, Short neck, Brachydactyly, Delayed ... OMIM:103580
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Lowry-Maclean Syndrome
Widely patent coronal suture, Convex nasal ridge, High, narrow palate, Cleft palate, Craniosynost... ORPHA:2409
Robinow Syndrome, Autosomal Dominant 1
High palate, Macrocephaly, Triangular mouth, Depressed nasal bridge, Short neck, Duplication of t... OMIM:180700
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Macrocephaly, Cleft palate, Depressed nasal bridg... ORPHA:485
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation, Aganglionic megacolon OMIM:613603
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Cleft palate, Tracheomalacia, Micrognathia, Depressed nasal bridge, Short... OMIM:217980
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Malar flattening, Short phalanx of finger, Tapered finger, Long fingers,... OMIM:613458
Coffin-Lowry Syndrome
High palate, Drumstick terminal phalanges, Tapered finger, Rectal prolapse, Delayed closure of th... OMIM:303600
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Micrognathia, Brachydactyly, Camptodactyly, Short nose, Clinodactyly, ... OMIM:613604
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... OMIM:263540
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Desbuquois Dysplasia 2
Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wre... OMIM:615777
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Long nose, Oligodont... OMIM:619184
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Everted lower lip vermilion, Delayed erupt... ORPHA:181
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Subperiosteal bon... OMIM:264700
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Ename... OMIM:612462
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... OMIM:313420
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad nasal tip, Congenital finger flexion con... ORPHA:166108
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Fetal Trimethadione Syndrome
High palate, Micrognathia, Depressed nasal bridge, Microcephaly, Scoliosis, Short nose ORPHA:1913
Verheij Syndrome
Hemivertebrae, Microcephaly, Short neck, Long philtrum, Scoliosis, Short 5th finger, Thin upper l... OMIM:615583
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Dysphagia, Malnutrition, ... OMIM:155310
Oculoauriculofrontonasal Syndrome
Narrow mouth, Macrocephaly, Cleft palate, Micrognathia, Microcephaly, Scoliosis, Bifid nasal tip,... ORPHA:398156
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Cleft palate, Micrognathia, Camptodactyly of finger, Short... ORPHA:1703
Aarskog-Scott Syndrome
Cleft palate, Short neck, Short nose, Hypoplasia of the maxilla, Cleft upper lip, Scoliosis, Curv...