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Gene: Irf6 MGI:1859211

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Gene Summary

Name:
interferon regulatory factor 6
Synonyms:
E230028I05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Irf6em1(IMPC)Wtsi HOM Early adult 3.63×10-06
increased circulating creatine kinase level Irf6em1(IMPC)Wtsi HOM Early adult 7.91×10-05
increased circulating creatinine level Irf6em1(IMPC)Wtsi HOM   Early adult 1.37×10-05

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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 Irf6 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 predicted to be associated to Irf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... ORPHA:3104
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... ORPHA:178303
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... ORPHA:628
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever... OMIM:311900
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... ORPHA:2916
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... OMIM:108720
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa... ORPHA:217340
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... ORPHA:2635
Costello Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Red... ORPHA:3071
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Joint stiffness, Micrognathia, Pectus excavatum, Abnormal thorax morphology, Flexion contracture,... ORPHA:1979
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Redundant skin, Narrow nasal ri... OMIM:612940
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... ORPHA:1277
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Leri Pleonosteosis
Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger morphology, Lack of ... ORPHA:2900
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Pectus ex... ORPHA:2746
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... OMIM:258850
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease... OMIM:308050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... ORPHA:2631
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... ORPHA:1782
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Protruding ear, Pectus carina... ORPHA:93315
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... OMIM:256200
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... OMIM:620269
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... OMIM:602535
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... ORPHA:2563
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Scarf Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Wide nasal base, Hepatocellular ... ORPHA:3134
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Shor... ORPHA:2015
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... ORPHA:376
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... OMIM:157980
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu... OMIM:620113
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Micrognathia, Proximal femoral metaphyseal irregula... ORPHA:397715
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... ORPHA:2886
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastroesophageal reflux, Thi... ORPHA:79345
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... OMIM:300577
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck, Limitation of join... ORPHA:3101
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Prominent nasal bridge, Short neck, Wide nasal bri... OMIM:312830
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... ORPHA:163966
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... OMIM:122470
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Macrotia, Gingival overgrowth, Pectus ca... ORPHA:79255
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el... OMIM:614078
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot OMIM:183700
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial deviation of the 2nd finger, Cle... ORPHA:1388
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Narrow che... ORPHA:163649
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridg... ORPHA:261120
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... ORPHA:1327
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Neu-Laxova Syndrome
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Bifid uvula, Os... ORPHA:2671
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Abnormal form of the vertebral bodies, Reduced b... ORPHA:2370
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... OMIM:619110
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Protruding tongue, Thoracolumbar kyphosis, Gingival overgrowth, Dysp... OMIM:230600
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... OMIM:222448
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Uvula, Bifid
Bifid uvula OMIM:192100
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress... OMIM:616809
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Werner Syndrome
Increased bone mineral density, Miscarriage, Rocker bottom foot, Convex nasal ridge, Joint stiffn... ORPHA:902
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... OMIM:608328
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... ORPHA:166272
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... OMIM:225280
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Lamellar Ichthyosis
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Hyperkeratosis, Everted lower li... ORPHA:313
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint ... ORPHA:1695
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, P... OMIM:231050
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... OMIM:618529
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... ORPHA:1406
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corner... ORPHA:955
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ... OMIM:155050
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... OMIM:251450
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Osteoporosis, Lack of ... OMIM:615381
Rubinstein-Taybi Syndrome 2
Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pala... OMIM:613684
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Genu varum, Joint laxity, Syndactyly, Lumbar hyperlo... OMIM:619451
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi... ORPHA:1988
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... OMIM:620076
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... OMIM:258860
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... ORPHA:957
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Shor... OMIM:257300
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Ging... ORPHA:1832
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... OMIM:184260
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morpholog... ORPHA:2145
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal dental morph... ORPHA:1716
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou... ORPHA:969
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion bord... OMIM:617991
Pierpont Syndrome
Short neck, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Short t... OMIM:602342
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def... OMIM:609638
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morphology ORPHA:166100
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hearing impairment, Microgn... OMIM:613604
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i... OMIM:618961
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Mandibular prognathia, Sandal gap, Abnormal pinna morphology, Depressed nasal bridg... OMIM:300354
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Abnormal pelvic ... ORPHA:2928
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal brid... OMIM:241800
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... ORPHA:916
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Acne, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxial hand... ORPHA:3098
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in ch... OMIM:613320
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal... OMIM:619312
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Beaded ribs, Flexion contractu... OMIM:616897
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Taurodontism
Taurodontia OMIM:272700
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru... ORPHA:166108
Huriez Syndrome
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma ORPHA:384
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate ORPHA:168624
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... OMIM:617102
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Gingival overgrowth, Abs... OMIM:618658
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th ... OMIM:617877
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... OMIM:211750
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis... ORPHA:1865
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... ORPHA:950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, Hyperextensible skin, High palate, Short phalanx of fi... OMIM:612350
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Protruding ear, Gastroesophageal reflux,... ORPHA:1495
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Arthralgia of the hip... ORPHA:166002
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Single transverse ... OMIM:613544
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity, Joint stiffness ORPHA:1366
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... OMIM:118651
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... OMIM:617752
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl... ORPHA:40
Liebenberg Syndrome
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... OMIM:186550
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl... ORPHA:158687
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Depressed nasal ridge, G... OMIM:230500
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... OMIM:312870
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... ORPHA:3404
Neuronal Intestinal Pseudoobstruction
Natal tooth, Malabsorption ORPHA:99811
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Cleft Soft Palate
Cleft soft palate OMIM:119570
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Hearing impairment, Abnormality of the dentition, Flexion co... ORPHA:90153
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri... ORPHA:1703
Acrocephalopolydactyly
Short neck, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Thora... ORPHA:221054
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Micrognathia, Missin... ORPHA:1801
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... OMIM:255800
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Round ear, Short nose, Abnormal palate morphology ORPHA:1450
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Achondrogenesis Type 1A
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os... ORPHA:93299
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Depresse... OMIM:151210
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... OMIM:271665
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref... OMIM:614701
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Redundant skin, Micrognathia, Hyperextensible skin, Short phalanx of finger, Joint la... OMIM:225410
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo... ORPHA:1597
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Micrognathia, Whistling appearance, Trismus, Elbow flexion contract... OMIM:277720
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t... ORPHA:93298
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Anteverted nares, Wide mou... OMIM:618506
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Craniosynostosis, Microm... ORPHA:93329
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Anauxetic Dysplasia 3
Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa... OMIM:618853
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... OMIM:215150
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Acromicric Dysplasia
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Short foot, Cone-shaped... OMIM:102370
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Filippi Syndrome
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors OMIM:272440
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... OMIM:617201
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... ORPHA:90653
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... ORPHA:2163
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Pectus excavatum, Small ha... OMIM:614684
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Aarskog-Scott Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Hyperext... ORPHA:915
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... ORPHA:85166
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... ORPHA:2710
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl... ORPHA:166024
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse... ORPHA:79113
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Branchial cyst, Anteverted nares, Short... OMIM:615583
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate ORPHA:3019
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... OMIM:600325
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea... ORPHA:2701
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Short neck, High palate, Low-set ears, Narrow mouth, Clino... ORPHA:217385
Perlman Syndrome
Posteriorly rotated ears, Anteverted nares, Micrognathia, High, narrow palate, Short nose, Wide n... ORPHA:2849
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Abnormal pinna morphology, Depress... ORPHA:35173
Non-Distal Duplication 13Q
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Aplasia/H... ORPHA:1702
Achondrogenesis
Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t... ORPHA:932
Monosomy 5P
Microretrognathia, Finger syndactyly, High palate, Small hand ORPHA:281
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, G... OMIM:134780
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... OMIM:113000
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... OMIM:612913
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... OMIM:617061
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... OMIM:614669
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Sensorineural... OMIM:184840
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... ORPHA:1529
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu... ORPHA:1035
Stickler Syndrome, Type I
Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodactyly, Antever... OMIM:108300
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Pruritus, Abnormal thorax morphology, Lack of skin ... ORPHA:758
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... ORPHA:2741
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... ORPHA:536516
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Choanal... OMIM:259775
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... OMIM:601559
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ... ORPHA:2780
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Abnormality of th... ORPHA:576283
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ... ORPHA:2107
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... ORPHA:3455
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala... OMIM:190351
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Micromelia, P... OMIM:614091
Pfeiffer Syndrome Type 2
Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bri... ORPHA:93259
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... ORPHA:2863
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... OMIM:215045
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax... OMIM:619143
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Abnormal pinna morphology, Anteverted nares, Proximal placement ... OMIM:217980
Even-Plus Syndrome
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Ato... OMIM:616854
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Smooth philtrum, Thin upper lip vermilion, Slender nose, Micrognathia, Pectus carinatum, Wide mou... OMIM:615419
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon... ORPHA:85172
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Ulnar deviation o... ORPHA:1895
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... ORPHA:50945
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T... OMIM:300863
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nares, Micrognathia, Prominent ... ORPHA:251019
Moebius Syndrome
Syndactyly, Brachydactyly, Abnormality of the dentition, Micrognathia, Split hand, Abnormal pelvi... OMIM:157900
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin... ORPHA:881
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Rafiq Syndrome
Joint laxity, Smooth philtrum, Thin upper lip vermilion, Wide nose, Short neck, Prominent nose, B... OMIM:614202
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl... OMIM:222765
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebral hypoplasia, Ab... ORPHA:56305
Intellectual Developmental Disorder, Autosomal Dominant 62
Joint laxity, Arachnodactyly, Increased arm span, Scoliosis, Striae distensae OMIM:618793
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... ORPHA:536467
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... OMIM:616029
Peho-Like Syndrome
Open mouth, Retrognathia, Short nose, Tapered finger OMIM:617507
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... OMIM:132400
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... OMIM:177170
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Pa... OMIM:105650
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Baralle-Macken Syndrome
High, narrow palate, Kyphosis, Striae distensae, Tapered finger OMIM:619255
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... ORPHA:1515
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... OMIM:271510
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... ORPHA:2251
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Spinal rigidity, Pectus excavatum, Abnormal elasticity... ORPHA:486815
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Musculocontractural Ehlers-Danlos Syndrome
Redundant skin, Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Protruding... ORPHA:2953
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... OMIM:601812
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Soft skin, Generalized joint laxity, Hyperextensible skin, Talipes eq... OMIM:130010
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Tooth ... OMIM:605676
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Epilepsy, Progressive Myoclonic, 9
Short thumb, Microglossia OMIM:616540
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy ORPHA:496689
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... OMIM:614815
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Hearing impairment, Short neck, Choanal atresia, Myelom... ORPHA:1914
Noonan Syndrome 7
Depressed nasal bridge, Joint hypermobility, Short neck, Pectus excavatum, Cubitus valgus, Pectus... OMIM:613706
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... ORPHA:2994
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... OMIM:193700
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... ORPHA:163654
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... ORPHA:2633
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a... OMIM:136760
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill... OMIM:619142
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Loeys-Dietz Syndrome 4
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hi... OMIM:614816
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... OMIM:610536
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... ORPHA:536471
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Recurrent skin infections, Single transverse palmar crease, Broad nasal ti... ORPHA:391372
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hearing impairment, Tapered finger, Micrognathia, Short neck, Macrotia, Wide nasal bridge, Narrow... OMIM:620250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Clinodactyly, Downturned corners of mouth, High palate, Widely... ORPHA:369891
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... ORPHA:391408
Trisomy 12P
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal ... ORPHA:1699
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Conductive hearing impairment, Spina bifid... OMIM:150250
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Depressed nasal ridge... OMIM:608022
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... OMIM:108721
Multiple Sulfatase Deficiency
Anteverted nares, Broad hallux, Hypoplastic vertebral bodies, Broad thumb, Hearing impairment OMIM:272200
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Redund... ORPHA:3447
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... ORPHA:3121
Cleft Palate-Large Ears-Small Head Syndrome
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Pro... ORPHA:2013
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... ORPHA:83
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Postaxial polydactyly, Esophageal varix, Retrognathia, Hyperkeratosis, Hip dysp... OMIM:614576
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... ORPHA:2804
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Bifid uvula, Finger joint hypermobility OMIM:601492
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Ulnar deviat... ORPHA:1387
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Thick nas... ORPHA:293725
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bridge, Kypho... OMIM:215100
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia ORPHA:1816
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:763
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi... ORPHA:251028
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Short nose, Unilambdoid synostosis,... OMIM:618577
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
3C Syndrome
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Gastroesophageal r... ORPHA:7
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Dysostosis, Stanescu Type
Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta... ORPHA:1798
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Prominent nose, Short philtrum, Gastroesophageal reflux, Long toe, Exaggerated cupid's bow, Under... OMIM:618316
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... OMIM:618342
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... OMIM:615582
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... OMIM:614744
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Wide mouth,... ORPHA:485405
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint laxity, Microretro... OMIM:618870
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose ORPHA:2598
Schilbach-Rott Syndrome
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... OMIM:164220
Monosomy 9P
Proximal placement of thumb, Micrognathia, Short neck, Anotia, High palate, Bilateral single tran... ORPHA:261112
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... ORPHA:2554
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Micrognath... OMIM:619941
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma... ORPHA:949
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... ORPHA:1825
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption of permanent teeth, Sh... OMIM:619356
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Cardiofaciocutaneous Syndrome
Redundant skin, Short neck, Hyperextensible skin, High palate, Thickened helices, Low-set, poster... ORPHA:1340
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... ORPHA:217017
Feingold Syndrome
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, External e... ORPHA:1305
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... OMIM:617602
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Depressed nasal ridge, Cleft... OMIM:613885
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h... OMIM:180870
Tetrasomy 5P
Redundant neck skin, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Short... ORPHA:3309
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast... OMIM:117650
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Stickler Syndrome, Type Ii
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers, High, narro... OMIM:604841
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... ORPHA:79474
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Apl... OMIM:146000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... OMIM:239300
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... ORPHA:2547
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... OMIM:225060
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... ORPHA:1856
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... ORPHA:710
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Short n... OMIM:264180
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Hig... OMIM:616364
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... OMIM:611209
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Spina bifida occulta, Epi... ORPHA:177
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Protru... OMIM:156200
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... OMIM:300882
Distal Deletion 10P
Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Joint stiffness, M... ORPHA:1580
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling OMIM:614876
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Esophageal a... OMIM:619859
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda... OMIM:164745
Ohdo Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Wide na... OMIM:249620
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Sensorineural hearing impairment, Flexion contracture, Hip dysplasia, Scolio... OMIM:618379
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Poste... OMIM:612813
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Glutamine Deficiency, Congenital
Anteverted nares, Depressed nasal bridge, Micromelia, Erythema, Flexion contracture, Wide nasal b... OMIM:610015
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Redundant skin, Carious teeth, Wide anterior fontan... OMIM:219200
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... ORPHA:261318
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... OMIM:115150
Toriello-Carey Syndrome
Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Short neck, W... ORPHA:3338
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... OMIM:614613
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Clef... ORPHA:93946
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... ORPHA:77258
Man1B1-Cdg
Smooth philtrum, Thin upper lip vermilion, Eclabion, Wide nose, Short neck, Prominent nose, 2-3 t... ORPHA:397941
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Clin... ORPHA:96148
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial ... OMIM:251230
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Trichorhinophalangeal Syndrome Type 2
Redundant skin, Deep philtrum, Protruding ear, Conductive hearing impairment, Thick nasal alae, B... ORPHA:502
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, High palate, Stria... OMIM:157700
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplastic coccygeal vertebrae,... OMIM:619512
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ... OMIM:224400
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... ORPHA:435638
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... ORPHA:175
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Single transverse palmar ... ORPHA:96334
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... ORPHA:2879
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Single transverse palmar crea... OMIM:613443
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Redundant neck skin, Rhizomelia, Anteverted nares, Micromelia, Short neck,... ORPHA:1842
Renpenning Syndrome
Mandibular prognathia, Macrodontia, Joint stiffness, Abnormal thumb morphology, High, narrow pala... ORPHA:3242
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Bulbo... OMIM:618571
Coffin-Lowry Syndrome
Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear,... ORPHA:192
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse... ORPHA:2021
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Protrudi... OMIM:249420
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... ORPHA:251056
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Aganglionic megacolon, A... ORPHA:59315
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, High palate, Short philtrum, Gastroesophageal reflux, Narrow ches... OMIM:617746
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing,... OMIM:616462
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Death in infancy, Micrognathia, Congenital contracture, High palate, Sc... OMIM:615042
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... OMIM:616894
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Palmoplantar keratoderma OMIM:613576
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Autosomal Dominant Omodysplasia
Short palm, Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, L... ORPHA:93328
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Bilateral single transve... ORPHA:1786
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... ORPHA:2429
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Everted lo... ORPHA:1784
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky... ORPHA:508533
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Calcaneovalgus ... OMIM:615065
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... OMIM:183900
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, ... OMIM:617808
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... ORPHA:819
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... OMIM:211350
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus OMIM:616155
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... OMIM:156550
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Short neck, Pectus carinatum, Shoulder dislocation, Hyperextensible ski... OMIM:245600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... ORPHA:3473
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... OMIM:614083
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... ORPHA:88630
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... OMIM:300558
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... OMIM:613091
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... OMIM:164900
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Low-set ears, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose OMIM:613670
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... OMIM:612916
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Hydrolethalus
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft... ORPHA:2189
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Hypomelanosis Of Ito
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... OMIM:300337
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Flexion contr... OMIM:224690
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... OMIM:617866
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Scaling skin, Neonatal death, Depres... OMIM:275210
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi... OMIM:606851
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... OMIM:618067
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Reduced bone mineral densi... ORPHA:2983
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... OMIM:224410
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Low-s... ORPHA:163961
Say Syndrome
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... OMIM:181180
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... ORPHA:3107
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous synd... ORPHA:2890
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... OMIM:616229
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Proximal p... ORPHA:261211
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... OMIM:617412
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... OMIM:615222
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Intestinal malrot... ORPHA:401935
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Depressed nasal br... OMIM:619833
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... OMIM:614753
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Overfolded helix, High palate, Abnormal helix morphology, L... ORPHA:1913
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Protruding ear, Long philtrum, Bilat... OMIM:615539
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Clinodactyly, High palate... OMIM:608156
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... ORPHA:250984
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Un... OMIM:615866
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever... OMIM:227330
Cranioectodermal Dysplasia 4
Smooth philtrum, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Cutis laxa, Protr... OMIM:614378
Thanatophoric Dysplasia
Depressed nasal bridge, Redundant skin, Micromelia, Joint stiffness, Hearing impairment, Abnormal... ORPHA:2655
Seckel Syndrome 5
11 pairs of ribs, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, O... OMIM:613823
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Long nose, Short n... ORPHA:2636
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan... ORPHA:2658
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Macrot... OMIM:613026
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio... OMIM:620369
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ... OMIM:619124
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Flexion contr... OMIM:619383
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Increased susceptibility to fr... OMIM:615349
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... OMIM:609166
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Thoracic hypoplasia, Micro... OMIM:608013
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... ORPHA:79481
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... ORPHA:2249
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Oral mucosal blisters, Pruritu... ORPHA:555905
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... ORPHA:235
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Narrow mouth, Flexio... OMIM:608612
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Temple Syndrome
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Flex... OMIM:616222
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... OMIM:619122
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Intest... ORPHA:35107
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... OMIM:146510
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... OMIM:613458
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten... ORPHA:156728
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Clinodactyl... OMIM:614261
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... OMIM:605130
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Gastroesophageal reflux, Dislocated radial head, Syndactyly, A... OMIM:605039
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... ORPHA:485
Summitt Syndrome
Syndactyly OMIM:272350
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses... OMIM:119600
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... OMIM:616300
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnorma... ORPHA:363659
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Micrognathia, Short ... ORPHA:1752
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... ORPHA:404440
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares, Micrognath... ORPHA:1974
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... OMIM:164200
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Kindler Epidermolysis Bullosa
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho... ORPHA:2908
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Patellar hypoplasia, Protruding ear, High palate, Short ... ORPHA:3041
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Skin rash, Depressed nasal bridge, Joint stiffness, Carious... OMIM:604173
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Stiff Skin Syndrome
Sensorineural hearing impairment, Limitation of joint mobility, Lack of skin elasticity ORPHA:2833
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Alkuraya-Kucinskas Syndrome
Overlapping toe, Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed nasal bridge... OMIM:617822
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hyperlordosis, Pierre-R... OMIM:619980
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly OMIM:132450
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Rocker ... OMIM:601353
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... OMIM:246560
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal ... OMIM:618590
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Eczema, Thoracic hypoplasia, Death in adolescence, Short long bone, Sti... OMIM:619751
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen... OMIM:210600
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... OMIM:612292
Kbg Syndrome
Vertebral fusion, Thin upper lip vermilion, Macrodontia, Anteverted nares, Prominent nasal bridge... ORPHA:2332
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Redundant skin, Underdeveloped nasal alae, External ear malformatio... ORPHA:1252
Macs Syndrome
Irregular dentition, Redundant skin, Single transverse palmar crease, Micrognathia, Hyperextensib... OMIM:613075
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Short neck, Underdeveloped n... OMIM:263210
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93260
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ... ORPHA:96184
Down Syndrome
Short neck, Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Cl... ORPHA:870
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia OMIM:614450
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned... OMIM:619950
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar em... OMIM:239800
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph... OMIM:616580
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia... ORPHA:245
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Duplication of phalanx o... OMIM:243310
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... OMIM:608572
Distal Deletion 9P
Low-set, posteriorly rotated ears, Abnormality of the dentition, Short neck, High, narrow palate,... ORPHA:1642
Antisynthetase Syndrome
Skin rash, Pruritus, Xerostomia, Lack of skin elasticity, Dysphagia ORPHA:81
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... OMIM:226980
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Low-set... ORPHA:1908
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Amelia OMIM:601163
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Joint ... ORPHA:1860
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... ORPHA:2001
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectus excavatum, Retrogna... ORPHA:1812
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short ne... ORPHA:2083
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Distal Duplication 5Q
Hypoplasia of the ulna, Eczema, Craniosynostosis, Absent thumb, Carious teeth, Micrognathia, Prom... ORPHA:96097
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... ORPHA:531
Rothmund-Thomson Syndrome Type 2
Osteopenia, Long nose, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phal... ORPHA:221016
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Mycophenolate Mofetil Embryopathy
Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Anotia, Micro... ORPHA:268249
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... OMIM:213980
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta ORPHA:1514
Distal Monosomy 7Q36
Micrognathia, Short neck, Pectus excavatum, Non-midline cleft lip, Bulbous nose, Cleft palate, Sy... ORPHA:1636
Intellectual Disability-Strabismus Syndrome
Micrognathia, Short neck, Prominent nose, High palate, Gastroesophageal reflux, Depressed nasal b... ORPHA:363528
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Kagami-Ogata Syndrome
Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Micrognathi... OMIM:608149
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Macrotia, Smooth phi... ORPHA:438178
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:560
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... ORPHA:2980
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Reduced bone mineral density, Downturned cor... ORPHA:1185
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru... OMIM:616420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,... OMIM:619184
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... OMIM:613573
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Sensorineural hearing impairment, Osteolysis, Honeycomb palmoplantar hy... ORPHA:494
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Short proximal... OMIM:616638
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, N... ORPHA:1163
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tr... OMIM:619227
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Esophageal atresia, Hy... ORPHA:3412
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia ... ORPHA:1358
Campomelic Dysplasia
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Hartnup Disorder
Glossitis OMIM:234500
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectus excavatum,... ORPHA:357001
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... ORPHA:1295
C Syndrome
Redundant skin, Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger... ORPHA:1308
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Pectus exc... ORPHA:65286
Koolen-De Vries Syndrome
High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae... ORPHA:96169
Laron Syndrome
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia ORPHA:633
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Monosomy 18P
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Wide nasal bridge, Cle... ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... OMIM:309583
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... OMIM:619314
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... ORPHA:137834
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... OMIM:600972
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... OMIM:250250
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Gastroesopha... ORPHA:354
Mass Syndrome
Scoliosis, Arachnodactyly, Striae distensae, Pectus carinatum OMIM:604308
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse... ORPHA:476126
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Redundant skin, Micromelia, Hearing impairment, Kyphosis, ... ORPHA:93274
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... OMIM:217085
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Aplasia/... ORPHA:2637
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... OMIM:219000
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal ... OMIM:615524
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... OMIM:614607
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Prominent nose, Delayed ep... OMIM:210710
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... ORPHA:95699
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... ORPHA:800
Schisis Association
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia ORPHA:63862
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Depressed nasal ridge, Cleft palate... ORPHA:1912
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar deviation of fin... ORPHA:921
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Micromelia, Coxa vara ORPHA:168555
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Gastroesophageal reflux, Scoliosis, Prominent nasal tip, ... OMIM:618218
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab... ORPHA:2167
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... OMIM:601356
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose OMIM:617183
Larsen-Like Syndrome
Joint laxity, Kyphoscoliosis, Conductive hearing impairment, Wide anterior fontanel, Dental maloc... OMIM:608545
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Dyskeratosis Congenita
Esophageal stenosis, Recurrent fractures, Hearing impairment, Abnormality of the dentition, Cario... ORPHA:1775
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Flexion contracture, Retrognat... OMIM:601675
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... OMIM:263650
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal... ORPHA:436003
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia OMIM:619092
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Rhi... ORPHA:171866
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp... ORPHA:238750
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... OMIM:216550
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max... OMIM:231070
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... ORPHA:894
Meier-Gorlin Syndrome 5
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... OMIM:613805
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... ORPHA:2063
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Pectus carinatum,... OMIM:130070
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... OMIM:615398
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... ORPHA:1512
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... OMIM:305450
Glass Syndrome
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... OMIM:612313
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi... ORPHA:1299
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest, Microretrognathia, Ra... OMIM:301041
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of... OMIM:141400
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... ORPHA:63259
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Sandal gap, Low-set ears, Narrow mouth, Short nose, Brach... OMIM:616459
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... ORPHA:521426
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Joint stiffness, M... ORPHA:1915
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoart... OMIM:618000
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... OMIM:619981
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... OMIM:616354
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, ... OMIM:617527
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Posteriorly rotated ears, Depre... OMIM:618430
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Trisomy 10P
Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip ... ORPHA:171929
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... OMIM:612651
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... OMIM:302950
Coffin-Siris Syndrome 3
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... OMIM:614608
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis OMIM:618356
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth OMIM:619797
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Calcaneo... ORPHA:3078
Marden-Walker Syndrome
Micrognathia, Short neck, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... OMIM:248700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Prominent nose, Long fingers, Underdevelo... ORPHA:447980
Fryns Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n... OMIM:229850
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia ORPHA:79107
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia OMIM:119580
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Posteriorly rotated ears, Prominent nasal bridge, Tapered finger, Bulbous ... OMIM:613870
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... OMIM:250220
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... OMIM:617337
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... ORPHA:1133
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... OMIM:619297
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, ... OMIM:614080
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... ORPHA:251071
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening,... OMIM:182212
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypop... OMIM:617895
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Short nose, Hyp... OMIM:616910
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Narrow mouth, Intestinal lymphangiectasia, Camptodactyly OMIM:616006
Kury-Isidor Syndrome
Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H... OMIM:619762
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... OMIM:618332
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... ORPHA:828
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal sma... ORPHA:90291
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos... OMIM:145420
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Xylt1-Cdg
Joint laxity, Acne, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion... ORPHA:370930
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Long clavicles, Redundant skin, Seborrheic dermatitis, Pectus excavatum, Limitation o... OMIM:259100
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Toluene Embryopathy
Micrognathia, Tapered finger, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... ORPHA:1920
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Posteriorly rotated ears, Ant... OMIM:247200
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge... OMIM:616835
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... OMIM:277590
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, 3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Warty Dyskeratoma
Abnormality of the alveolar ridges, Acantholysis, Oral mucosa nodule, Abnormal hard palate morpho... ORPHA:69745
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Chime Syndrome
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas... ORPHA:3474
Fibromuscular Dysplasia, Multifocal
Dental crowding, Joint hypermobility, Soft skin, Hiatus hernia, Micrognathia, Narrow nose, Pectus... OMIM:619329
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long philtrum, Sh... OMIM:190440
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent cru... OMIM:619194
Trisomy 18
Pointed helix, Bilateral single transverse palmar creases, Microretrognathia, Low-set, posteriorl... ORPHA:3380
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Sensorineural hearing impairment, Flexion contracture, Hyper... ORPHA:544503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... ORPHA:438216
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Congenital hip dislocation, Redundant skin, Anteverted nares, Broad nasal ti... ORPHA:357074
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Abnormal palate morphology ORPHA:251046
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... OMIM:269300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Narrow ... OMIM:266920
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... OMIM:608257
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin, Joint hypermobility OMIM:130020
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... OMIM:129400
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Short neck, Sensorineural hearing i... OMIM:608779
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Recombinant 8 Syndrome
Redundant skin, Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodact... ORPHA:96167
Arterial Tortuosity Syndrome
Redundant skin, Coxa vara, Hyperextensible skin, Gastroesophageal reflux, Clinodactyly of the 5th... ORPHA:3342
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Chei... ORPHA:293173
Progeroid Syndrome, Petty Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Redundant skin, Wide anterior fontanel,... ORPHA:2963
Geroderma Osteodysplastica
Mandibular prognathia, Beaking of vertebral bodies, Recurrent fractures, Redundant skin, Hip disl... ORPHA:2078
Tetrasomy 18P
Low-set, posteriorly rotated ears, Large hands, Thin vermilion border, Scoliosis, Narrow mouth, S... ORPHA:3307
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft... OMIM:614557
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Hyperplasia... ORPHA:313892
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... ORPHA:2588
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Posteriorly rotated ears, Anteverted nares, Micrognathia, G... OMIM:602398
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum... ORPHA:314655
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... OMIM:613717
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... ORPHA:2204
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasi... ORPHA:96149
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasa... ORPHA:666
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gas... OMIM:300373
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Redundant skin, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Lack of ... ORPHA:90349
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... ORPHA:261236
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... ORPHA:2345
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Redundant neck skin, Hearing impai... ORPHA:93333
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose... ORPHA:261144
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia OMIM:606744
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact... OMIM:244450
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermil... OMIM:601853
Mosaic Trisomy 8
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... ORPHA:96061
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract... OMIM:226600
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C... OMIM:263750
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Erythema, Palmoplantar hyperkeratosis, Dystrophic fingernails, Dystrophic t... ORPHA:158673
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho... ORPHA:1323
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... ORPHA:264450
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... ORPHA:2754
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Mandibular prognathia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia... OMIM:614813
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Exaggerated cupid's bow, Depressed nasal bridge, Single transverse palmar crease, C... OMIM:620098
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Dpm1-Cdg
Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate... ORPHA:79322
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... ORPHA:210548
Loeys-Dietz Syndrome 2
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... OMIM:610168
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... OMIM:614749
4H Leukodystrophy
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition ORPHA:289494
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Uplifted... OMIM:300143
Prader-Willi Syndrome Due To Translocation
Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High palate, Clinodactyly ... ORPHA:177907
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Depressed nasal bridge, Thickened helices, Prominent nasal bridge, Bulbous nose, C... OMIM:618828
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal bridge, Single transv... OMIM:614105
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... OMIM:617022
Cerebrooculonasal Syndrome
Encephalocele, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Postaxial polydactyl... OMIM:605627
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os... ORPHA:99742
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop... ORPHA:79409
Hypophosphatasia, Infantile
Death in infancy, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition,... OMIM:241500
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Gastroesophage... OMIM:600373
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Hand polydactyly, High palate, Broad thumb OMIM:239710
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta... OMIM:300990
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Prolidase Deficiency
Depressed nasal bridge, Eczema, Micrognathia, Crusting erythematous dermatitis, Skin ulcer, Conca... OMIM:170100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Long... ORPHA:2759
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... OMIM:617802
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, Hearing impairment, Singl... OMIM:618619
Shprintzen-Goldberg Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... ORPHA:2462
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... OMIM:268400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Facioscapulohumeral Muscular Dystrophy 1
Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness OMIM:158900
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... ORPHA:2557
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... ORPHA:2215
Arterial Tortuosity Syndrome
Joint laxity, Soft, doughy skin, Arachnodactyly, Convex nasal ridge, Hiatus hernia, Micrognathia,... OMIM:208050
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Micrognathia, Scaling skin, Decreased skull ossification... ORPHA:1662
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... OMIM:612938
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Osteopenia, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Flexion contract... ORPHA:75496
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular necrosis of the capital f... ORPHA:1901
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowi... ORPHA:453510
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, Eczema, Short nec... ORPHA:488632
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology ORPHA:93283
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Jo... OMIM:618005
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Abnormal oral cavity morphology ORPHA:704
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Short thor... ORPHA:1797
Meester-Loeys Syndrome
Striae distensae, Arachnodactyly, Gingival overgrowth, Cervical spine instability, Abnormal stern... OMIM:300989
Peho Syndrome
Tented upper lip vermilion, Tapered finger, Open mouth, Retrognathia, Short nose OMIM:260565
Peho Syndrome
Anteverted nares, Tapered finger, External ear malformation, Flexion contracture, Limitation of j... ORPHA:2836
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Radio-Renal Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... ORPHA:3015
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hearing impairment, Single tr... OMIM:614114
Charcot-Marie-Tooth Disease, Type 4C
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy OMIM:601596
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Generalized joint laxity, Protruding ear, Hyperextensible skin, High palate, Ecchymosis, Abnormal... OMIM:601776
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Flexion contracture, Narrow palate, Downturned corners of mouth, Cl... OMIM:614222
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture... OMIM:312150
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... OMIM:274000
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog... OMIM:618021
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... ORPHA:1787
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... ORPHA:798
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent... ORPHA:1692
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus addu... OMIM:123450
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, High palate OMIM:262190
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly... ORPHA:397590
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Depressed nasal brid... ORPHA:99843
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... OMIM:164210
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrognathi... OMIM:301030
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Rectal prolapse, Gingival overgrowth, Narrow palate, Conical incisor, ... OMIM:235510
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Micrognathia, Shoulder disloca... ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Protruding ear, Oligodontia, High palate, Short philtrum, Depr... OMIM:309590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Trisomy 17P
Wide nose, Tapered finger, Micrognathia, Short neck, Prominent nose, Flexion contracture, Orofaci... ORPHA:261290
Maternal Phenylketonuria
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Wide nasal... ORPHA:2209
Ollier Disease
Micromelia, Joint stiffness, Osteolysis, Skin ulcer, Platyspondyly, Abnormal metaphysis morphology ORPHA:296
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... OMIM:252500
Distal Duplication 17Q
Hallux valgus, Joint laxity, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Overlap... ORPHA:3379
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum, Clinodactyly o... OMIM:618454
Larsen Syndrome
Finger syndactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bones, Cleft palate... ORPHA:503
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Protruding tongue, Micrognath... OMIM:242860
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Marfan Syndrome
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca... ORPHA:558
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... OMIM:619208
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Soft skin, Joint hypermobility, Pectus excavatum, Osteoa... OMIM:130000
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Cebalid Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, De... OMIM:618774
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Microtia, Low-s... OMIM:601088
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Narr... ORPHA:77301
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Darier-White Disease
Acantholysis, Pruritus, Palmar pits, Enlargement of parotid gland, Subungual hyperkeratotic fragm... OMIM:124200
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... OMIM:613803
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal alae, High, na... ORPHA:276432
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve... OMIM:618505
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Narrow greater sciatic notch, Gastr... ORPHA:79328
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Abnormal in... ORPHA:2311
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Mandibular prognathia, Dental crowdi... ORPHA:435938
Feingold Syndrome 1
Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Anteverted nares, Sh... OMIM:164280
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis OMIM:607936
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Gastroesophageal reflux, ... ORPHA:280633
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Pallor ORPHA:209981
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the gastrointestinal tract, Abnormal dental morphology, Osteomalacia, ... ORPHA:2176
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... ORPHA:1318
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Esophageal atresia, Sensorineural hearing impairment, Hemivertebr... OMIM:206900
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Anteverted nares, Eczema, Depressed nasal bridge, Wide... OMIM:600430
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... ORPHA:2308
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion,... OMIM:109400
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... OMIM:617140
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, 2-3 toe synd... OMIM:106260
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Abnormali... ORPHA:90154
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Diamond-Blackfan Anemia
Depressed nasal bridge, Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial dupli... ORPHA:124
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... ORPHA:89842
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... OMIM:268850
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Linear Skin Defects With Multiple Congenital Anomalies 2
Posteriorly rotated ears, Short nose, Sandal gap, Long philtrum OMIM:300887
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... ORPHA:263508
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... OMIM:156400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... OMIM:618265
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate,... OMIM:617157
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate, Micrognathia OMIM:243440
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Eczema, Kyphoscoliosis, Micrognathia, Pectus excavatum, Cleft lip,... OMIM:618348
Native American Myopathy
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Abnormal curvature of th... ORPHA:168572
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... ORPHA:1200
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Short nose OMIM:618087
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Downturned corners of mouth, Cl... OMIM:180860
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Short neck, Hemivertebrae, Rib fus... ORPHA:1394
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... OMIM:619472
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... ORPHA:373
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, W... OMIM:613603
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Thin vermilion... OMIM:614800
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... ORPHA:251014
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... ORPHA:329178
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Clinodactyly, Downturned corners of mouth, Short philtrum, Widely spaced teeth, ... OMIM:301044
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose ORPHA:228384
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Smooth philtrum OMIM:602501
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdonti... OMIM:613610
Mosaic Trisomy 9
Camptodactyly of finger, Rocker bottom foot, Micromelia, Intestinal malrotation, Spina bifida, Mi... ORPHA:99776
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... OMIM:300534
Osteoglosphonic Dysplasia
Tooth agenesis, Multiple unerupted teeth, Micrognathia ORPHA:2645
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose ORPHA:496790
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... OMIM:304120
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Wide... OMIM:209885
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly, Hamartoma of tongue ORPHA:1338
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... OMIM:616145
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orofacial cleft, Dry skin, Cl... OMIM:601701
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Gastroesophageal reflux, Narrow chest, Bifid uvula, Joint laxity, Anteve... OMIM:607812
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Hip dislocation, Cutis laxa, Hy... OMIM:219150
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Short palm, Ret... ORPHA:73246
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
Image Syndrome
Low-set ears, Metaphyseal dysplasia, Depressed nasal bridge, Micromelia ORPHA:85173
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... OMIM:300912
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... ORPHA:2920
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Hip dysplasia ORPHA:531151
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Deep philtrum, Abnormal palate morphology ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Eczema, Allergic rhinitis, Pectus excavatum, Ulnar deviation of th... OMIM:618162
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... OMIM:615656
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Single... OMIM:216340
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... OMIM:612863
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate ORPHA:250999
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... ORPHA:2549
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... ORPHA:783
Fontaine Progeroid Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Coronal craniosynostosi... OMIM:612289
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... OMIM:314390
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Exaggerate... ORPHA:464738
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cronkhite-Canada Syndrome
Intestinal polyposis, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous p... ORPHA:2930
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... ORPHA:1765
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... ORPHA:1300
Koolen-De Vries Syndrome
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Cl... OMIM:610443
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Kyphosis, Short nose, Protruding ear, Pectus carinatum, ... OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Gapo Syndrome
Anteverted nares, Redundant skin, Depressed nasal bridge, Micrognathia, High, narrow palate, Wide... OMIM:230740
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ... OMIM:614207
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... ORPHA:109
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Hyperextensibility at elbow, Aplasia/Hypoplasia of the ribs, Rhizomelia... ORPHA:319182
Lathosterolosis
Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Postaxial han... ORPHA:46059
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Redundant skin, Depressed nasal bridge, Kyphosis, Wide anterior... OMIM:616482
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excavatum, Orofac... ORPHA:60030
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t... OMIM:617865
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Ad... OMIM:615873
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Low-set ears, Long phi... OMIM:608776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip,... OMIM:607597
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... OMIM:211380
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Depressed nasal... OMIM:253290
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Joint stiffness, Micrognathia, Kyphosis, Wid... ORPHA:2510
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Pruritus, Short toe, Sensorineural hearing impairment, Cone-s... OMIM:619269
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Short neck, Hemivertebrae, Knee flexion contracture, Pectus carinatum, Cutaneo... OMIM:178110
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly OMIM:616589
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Small earlob... OMIM:272950
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... OMIM:607014
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... OMIM:607330
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal... ORPHA:1790
Aspartylglucosaminuria
Mandibular prognathia, Beaking of vertebral bodies, Abnormal morphology of ulna, Joint stiffness,... ORPHA:93
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... ORPHA:1906
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... OMIM:173800
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Wide mouth, High pal... OMIM:618580
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum OMIM:214150
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... OMIM:619148
Ritscher-Schinzel Syndrome 1
Syndactyly, Missing ribs, Micrognathia, Cleft palate, Anal atresia OMIM:220210
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... OMIM:619680
Hamamy Syndrome
Long toe, Syndactyly, Thin upper lip vermilion, Down-sloping shoulders, Tapered finger, Micrognat... OMIM:611174
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... OMIM:619503
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Redundant neck skin, Micrognathia, Short neck, Postax... OMIM:235255
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Tracheoes... ORPHA:2437
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Genu varu... ORPHA:221008
Deeah Syndrome
Prominent nasal tip, Death in infancy, Cervical hemivertebrae, Hearing impairment, Malabsorption,... OMIM:619004
Pemphigus Erythematosus
Malar rash, Oral ulcer, Acantholysis ORPHA:79480
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... OMIM:619493
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Cleft soft palate, Tapered finger, ... ORPHA:268261
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Co... ORPHA:3305
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short... ORPHA:3376
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Posteriorly rotated ears, Joint stiffness, Metatarsus ad... ORPHA:2461
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Cleft palate ORPHA:66629
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Absent toe, Split h... ORPHA:974
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... ORPHA:2314
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-... ORPHA:1104
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... ORPHA:1449
Fucosidosis
Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lumbar vertebrae... OMIM:230000
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Micrognathia, Pectus carinatum, Shoulder dislocation, Hyp... ORPHA:536545
Mulibrey Nanism
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of lon... OMIM:253250
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasa... OMIM:616430
Ogden Syndrome
Congenital hip dislocation, Redundant neck skin, Redundant skin, Micrognathia, Short neck, Deep p... OMIM:300855
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Anteverted nares, Eczema, Prominent nasal bridge, Congenital sensorineural hearing ... ORPHA:500159
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis ORPHA:79151
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Witteveen-Kolk Syndrome
Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtru... OMIM:613406
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal ala... OMIM:619005
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Short neck, Broad nasal tip, Small hand, Retrognathia, Bro... ORPHA:488434
Cornelia De Lange Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturned corners of mouth, W... ORPHA:199
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... ORPHA:2538
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... ORPHA:457279
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Eiken Syndrome
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... OMIM:600002
Kabuki Syndrome 2
Joint laxity, Natal tooth, Hearing impairment, Micrognathia, Broad nasal tip, Lower lip pit, Cupp... OMIM:300867
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Underdeveloped n... OMIM:614230
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia OMIM:614381
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Bifid uvula, Joint laxity, Depressed nasal bridge, Tapered finger, Wide nasal bri... OMIM:300968
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Bilateral single transve... ORPHA:488642
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Kyphoscoliosis, Tapered finger, Short neck, Underdeveloped nasal alae, ... OMIM:615803
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... OMIM:610759
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... ORPHA:2031
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microt... ORPHA:2306
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Eczema, Prominent nasal bridge, Micrognathi... OMIM:223370
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Classic Homocystinuria
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffnes... ORPHA:394
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... OMIM:258315
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtr... ORPHA:50810
Marfan Syndrome
Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, Pectus carinatum, High pal... OMIM:154700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... ORPHA:85199
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg... OMIM:256520
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Palmoplantar cutis g... ORPHA:1555
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... OMIM:617137
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Acantholysis, Erythema, Trach... ORPHA:537
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... OMIM:614976
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... OMIM:263520
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Dysphagia, Dry skin OMIM:612379
Occipital Horn Syndrome
Redundant skin, Pectus carinatum, Hyperextensible skin, High palate, Narrow chest, Broad ribs, Jo... OMIM:304150
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Kleefstra Syndrome
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Congenital Varicella Syndrome
Micromelia ORPHA:291
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Bowing of the legs, Hypoplastic ilia... ORPHA:1855
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... OMIM:151200
Aymé-Gripp Syndrome
Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered finger, Abnormal tho... ORPHA:1272
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, C... OMIM:265050
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, High palate, Gastroesophageal reflux, Narro... ORPHA:2059
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... OMIM:615630
Immunodeficiency 12
Skin rash, Esophageal stricture, Clubbing, Cheilitis, Osteoporosis, Death in adolescence, Recurre... OMIM:615468
Cranioectodermal Dysplasia 3
Joint laxity, Sandal gap, Rhizomelia, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... OMIM:614099
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... OMIM:610682
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Hypertrichosis Cubiti
Abnormality of the elbow, Rhizomelia, Micromelia ORPHA:2220
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... OMIM:617809
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Oste... ORPHA:2457
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... OMIM:618845
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Single transverse palmar crease, Micrognathia, Choanal stenosis, Arachnodactyly, W... ORPHA:83617
De Barsy Syndrome
Osteopenia, Dermal translucency, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscol... ORPHA:2962
Genitopalatocardiac Syndrome
Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Wide nasal bridge, Cle... ORPHA:2075
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Congenital hip dislocation, Arachnodactyly... OMIM:225400
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... ORPHA:994
Fanconi Anemia, Complementation Group B
Death in infancy, Absent thumb, Short neck, Esophageal atresia, Tracheoesophageal fistula, Bilate... OMIM:300514
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Shor... OMIM:301091
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Striae distensae... OMIM:619656
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Hip dislocation, Tongue fasciculations OMIM:614678
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, Mesomelia, High palate, Ga... OMIM:613457
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ... ORPHA:391474
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... ORPHA:2772
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... ORPHA:64755
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint laxity, Alveolar bone loss around teeth, Arachnodactyly, Hiatus hernia, Intestinal perforat... OMIM:130080
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... ORPHA:2143
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Depressed nasal bridge, Pyloric stenosis, ... ORPHA:363705
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Short neck, Wide nasal bridge, Microtia, Submu... ORPHA:2282
Feingold Syndrome Type 1
Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Short thum... ORPHA:391641
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... OMIM:619322
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Gas... ORPHA:818
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia ORPHA:447896
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Abnormal hand morphology, Small hand, Broad finger, Long philtrum, Low-set ears, Abnor... OMIM:300845
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, High palate, Gastroesophageal reflux, Simple ear, Joint laxity, Ant... OMIM:619325
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... OMIM:616449
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Eczema, Prominent nose, Protruding ear, Cutis laxa, Long philtrum, Retr... OMIM:619691
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split... ORPHA:2008
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ... OMIM:614120
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96263
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose, M... OMIM:620292
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion... ORPHA:363444
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Choanal atresia, Prominent nasal bridge, Short neck, Pectus excavatum,... ORPHA:52055
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... ORPHA:363611
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Tolchin-Le Caignec Syndrome
Arachnodactyly, Micrognathia, Prominent nose, Sensorineural hearing impairment, Submucous cleft h... OMIM:618971
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Bulbous... OMIM:603736
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho... ORPHA:2835
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Short neck, Long fingers, Narrow ... OMIM:156610
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Short nose, Macrotia, Abnormal vertebral morphology ORPHA:99688
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Abnormality of the dentition, Malabsorption, Underde... ORPHA:2315
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... ORPHA:261323
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... OMIM:175500
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate OMIM:616038
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia... OMIM:610253
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, High anterior hairline, Downturned corners of mouth, Hyperkeratosis, Short p... OMIM:615510
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Missing rib... OMIM:147791
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Broad nasal tip, Sensorineural hearing impairment, Wide nas... OMIM:300749
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... OMIM:618975
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb ORPHA:139471
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa... OMIM:618188
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, Pectus carinatum, High palate, Short philtrum, Thickened ... ORPHA:3063
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... ORPHA:284160
Craniofrontonasal Syndrome
Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Cleft u... OMIM:304110
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Mandibular prognathia, Single transverse palmar crease, Micrognath... OMIM:150230
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Hyperextensible skin... ORPHA:198
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal metacarpa... ORPHA:3224
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Orofac... ORPHA:1519
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p... ORPHA:96170
Mullegama-Klein-Martinez Syndrome
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... OMIM:301022
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Tongue fasciculations, Intrinsic hand muscle atrophy OMIM:620285
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia... ORPHA:90322
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Dental crowding, Persistence of primary teeth OMIM:619769
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... OMIM:618874
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Micrognathia ORPHA:1129
Laurence-Moon Syndrome
Finger syndactyly, Hand polydactyly, Bilateral single transverse palmar creases, Brachydactyly ORPHA:2377
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Flexion contracture, W... ORPHA:284979
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae, Protruding ear, Downturne... ORPHA:500150
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Cleft palate, Deep palmar crease, Thin vermilion borde... ORPHA:254346
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... OMIM:617402
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ... OMIM:280000
Bronchogenic Cyst
Back pain, Abnormal stomach morphology, Abnormal lumbar spine morphology, Dysphagia, Abnormality ... ORPHA:2357
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Alg12-Cdg
Redundant skin, Proximal placement of thumb, Micrognathia, Short philtrum, Gastroesophageal reflu... ORPHA:79324
Agnathia-Otocephaly Complex
Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia OMIM:202650
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's... ORPHA:284169
Degcags Syndrome
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Prominent nose, High palate, Pallor, Gastroe... OMIM:619488
Ring Chromosome 22 Syndrome
Large hands, Thick vermilion border, 2-3 toe syndactyly, Protruding tongue ORPHA:1446
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Single transverse palmar crease, Tapered finger, Protruding tongue, Broad ... OMIM:617804
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly, Esophageal ... OMIM:216360
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Large earlobe, Scoliosis, Short nose OMIM:615851
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Dysphagia ORPHA:36426
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Meckel diverticulum OMIM:616395
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Anorectal anomaly, Abnormal form of th... ORPHA:233
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia OMIM:616901
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric sten... OMIM:614438
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Redundant skin, Single transverse palmar ... OMIM:613177
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger... ORPHA:2604
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Wide mouth, Thin vermilion border,... ORPHA:217346
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava... OMIM:201180
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad... ORPHA:1942
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Esophageal stricture, Osteoporosis, Palmoplantar hyperkeratosis, Microdontia, Oral... OMIM:224230
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... OMIM:208150
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... ORPHA:2473
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con... OMIM:300166
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... OMIM:161200
Ring Chromosome 21 Syndrome
Syndactyly, Clinodactyly, Small hand, Narrow palm ORPHA:1445
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Micrognathia, High, narrow palate,... ORPHA:96182
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Long nose, Prominent nose, Bulbo... ORPHA:3047
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Preaxial polydacty... OMIM:243605
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... ORPHA:3206
White-Kernohan Syndrome
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... OMIM:619426
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus, Anal atresia OMIM:222748
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Congenital Disorder Of Glycosylation, Type Iir
Micrognathia, Low-set ears, Cutis laxa OMIM:301045
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil... ORPHA:251038
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Depressed na... ORPHA:1465
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Microm... OMIM:616546
Pallister-Hall Syndrome
Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Low-... ORPHA:672
Cholesteryl Ester Storage Disease
Pruritus, Esophageal varix ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose... OMIM:300967
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Gastroeso... OMIM:113620
Holoprosencephaly 13, X-Linked
Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Vertebral clefti... OMIM:301043
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro... ORPHA:54028
Joubert Syndrome 33
Syndactyly OMIM:617767
Immunodeficiency 23
Eosinophilia, Eczema, Allergic rhinitis, Esophageal stricture, Erythema, Sensorineural hearing im... OMIM:615816
Constricting Bands, Congenital
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus OMIM:217100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, High palate OMIM:614520
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Depressed nasal ridge, Narrow chest, Limb undergrowth, Abnormal me... ORPHA:1861
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ... OMIM:616507
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... ORPHA:1001
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polyd... ORPHA:93271
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Gabriele-De Vries Syndrome
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Posteriorly rotated ears, Cranios... ORPHA:506358
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Filippi Syndrome
Finger syndactyly, Enlarged epiphyses, Thin vermilion border, Short philtrum, Clinodactyly of the... ORPHA:3255
Classical Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Soft, doughy skin, Phalangeal dislocation... ORPHA:287
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Os... ORPHA:90354
Okamoto Syndrome
Tented upper lip vermilion, Redundant neck skin, Downturned corners of mouth, Gastroesophageal re... ORPHA:2729
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, High palate, Foot polydactyly... ORPHA:250989
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Fg Syndrome 5
Anteverted nares, Depressed nasal bridge, Diastema, Long philtrum, Short nose OMIM:300581
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Co... ORPHA:444077
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous... OMIM:619103
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Ring Chromosome 12 Syndrome
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Clin... ORPHA:1439
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Abnormal pinna morphology, Depressed nasal bridge, ... OMIM:614437
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Joint hemorrhage, Short distal phalanx o... OMIM:277450
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Petechiae OMIM:619463
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Limited elbow extension and supination, Dental crowding, Single tra... ORPHA:93932
Focal Dermal Hypoplasia
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... OMIM:305600
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... OMIM:278250
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... OMIM:617063
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Narrow palate, Hip dysplasia... OMIM:616078
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis ORPHA:2269
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... OMIM:236500
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, ... OMIM:612562
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protruding... OMIM:212066
Tyrosinosis
Hypertyrosinemia OMIM:276800
Chops Syndrome
Anteverted nares, Thickened helices, Hearing impairment, High, narrow palate, Downturned corners ... OMIM:616368
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Os odontoideum, Adducted thumb, Hip dislocation, Cutis laxa, Protruding... OMIM:616603
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia OMIM:241310
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion,... ORPHA:324410
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm... ORPHA:1675
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... OMIM:270400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:604292
Emanuel Syndrome
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... OMIM:609029
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Ehlers-Danlos Syndrome, Classic-Like
Joint hypermobility, Hiatus hernia, Hyperextensible skin, Soft skin, Striae distensae OMIM:606408
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken... ORPHA:309282
Cerebellar-Facial-Dental Syndrome
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... ORPHA:444072
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Micromelia, Short neck, Postaxial... OMIM:200995
Duane-Radial Ray Syndrome
Syndactyly, Radial deviation of the hand, Hypoplasia of the ulna, Sandal gap, Short humerus, Anal... OMIM:607323
Cerebrocostomandibular Syndrome
Death in infancy, Hydranencephaly, Tracheomalacia, Spina bifida, Micrognathia, Conductive hearing... ORPHA:1393
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Carey-Fineman-Ziter Syndrome 1
Tapered finger, Micrognathia, Trismus, Pierre-Robin sequence, Cleft palate, Glossoptosis, Pectora... OMIM:254940
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Joint laxity, Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... ORPHA:79500
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Tap... OMIM:616734
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the elbow, Hip dislocation, ... ORPHA:1005
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Retrognathia, Small hand OMIM:616489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Micrognathia ORPHA:73272
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal ridge, Orofacial cleft, High palate, Gastroesophageal reflux, Conductive hearing ... OMIM:607872
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Flat... OMIM:610828
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Posteriorly rotated ears, D... OMIM:619479
Gracile Bone Dysplasia
Slender long bone, Ankyloglossia, Flared metaphysis, Brachydactyly OMIM:602361
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Cutis laxa, High palate, Long philtrum, Short nose OMIM:605309
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Alg8-Cdg
Abnormality of the gastrointestinal tract, Cutis laxa, Macroglossia, Talipes equinovarus, Low-set... ORPHA:79325
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Widely spaced teeth, Conductive hearing impairment, Clinoda... ORPHA:709
Acromelic Frontonasal Dysostosis
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... OMIM:603671
Mirage Syndrome
Rocker bottom foot, Radial club hand, Esophageal stricture, Gastroesophageal reflux, Talipes equi... OMIM:617053
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... OMIM:619522
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Lelis Syndrome
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia ORPHA:140936
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death OMIM:619817
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... ORPHA:50
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor... ORPHA:2834
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Asymmetry of t... ORPHA:401973
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ... ORPHA:96092
Sclerosteosis 1
Mandibular prognathia, Syndactyly, 2-3 finger syndactyly, Dental malocclusion, Deviation of finge... OMIM:269500
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ... ORPHA:319675
Immunodeficiency 49
Natal tooth, Short philtrum, Micrognathia OMIM:617237
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly ORPHA:60040
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia ORPHA:2484
Geleophysic Dysplasia 2
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... OMIM:614185
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Mandibular prognathia, Prominent nasal tip, Sandal gap, P... OMIM:620330
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Flexion contracture, Short nose, ... OMIM:614225
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis, Premature grayin... OMIM:613989
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Hearing impairment, Micrognathia OMIM:256600
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... OMIM:194190
Short Syndrome
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... OMIM:269880
Craniofacioskeletal Syndrome
Barrel-shaped chest, Thin upper lip vermilion, Posteriorly rotated ears, Choanal atresia, Microgn... OMIM:300712
Williams Syndrome
Osteopenia, Redundant skin, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies,... ORPHA:904
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh... OMIM:309500
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth OMIM:277440
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal pa... OMIM:154500
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Short lingual frenulum, Aplasia/Hypoplasia involving bones of the skull, Unilateral b... ORPHA:1521
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Osteoporosis, Facial erythema, Biconcave vertebral bodies, Ecchymosis, Vertebral compre... OMIM:219090
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Flexion contracture, Gastroesophageal reflux, Single transverse palmar crease ORPHA:79243
Cdags Syndrome
Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cle... OMIM:603116
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... ORPHA:306542
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615108
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural hea... OMIM:618460
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Palmoplantar hyperkeratosis, Perio... OMIM:173650
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Craniosynostosis, Eosinophilic infiltration of the esophagus, Micro... OMIM:609192
Myopathy, Myofibrillar, 7
Elbow flexion contracture, Tongue atrophy, Shoulder flexion contracture, Talipes equinovarus OMIM:617114
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Kyphosis, ... ORPHA:1724
Menkes Disease
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cutis laxa, Death in childhood OMIM:309400
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Sensorineural hearing impairment, Anosmia, Tracheoesophageal fistula, Cleft p... ORPHA:3157
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... ORPHA:2369
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... OMIM:600092
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Eczema, Con... OMIM:305100
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Sensorineura... ORPHA:2719
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Arthrogr... OMIM:226730
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Congenital hip dislocation, High palate OMIM:104350
Adams-Oliver Syndrome 5
Syndactyly, Umbilical hernia, Esophageal varix, Brachydactyly OMIM:616028
Aortic Aneurysm, Familial Thoracic 10
Joint laxity, Dental crowding, Joint hypermobility, Pectus excavatum, High palate, Scoliosis, Str... OMIM:617168
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... OMIM:620370
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Recurrent skin infectio... ORPHA:79408
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro... ORPHA:96201
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly... OMIM:620029
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... ORPHA:261537
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Short Stature, Microcephaly, And Endocrine Dysfunction
Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural hearing impairment, Tooth malpo... OMIM:616541
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... ORPHA:73223
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Gastrointestinal dys... ORPHA:2152
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo... ORPHA:1517
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... OMIM:208500
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Carious teeth, Widely spaced teeth, Yellow-brown ... OMIM:619229
Cerebrofacioarticular Syndrome
Syndactyly, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Narrow m... ORPHA:314679
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the... OMIM:214800
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna... OMIM:601803
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hemivertebrae, Tracheoesophageal fistula, Abnormal vertebra... ORPHA:77298
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... ORPHA:2067
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi... OMIM:192350
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Short r... OMIM:615503
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Distal Deletion 15Q
Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna... ORPHA:1596
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615109
Dend Syndrome
Anteverted nares, Thickened ears, Downturned corners of mouth, Long philtrum, Clinodactyly of the... ORPHA:79134
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup... OMIM:117550
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... OMIM:184705
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... OMIM:601707
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... ORPHA:2363
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa... ORPHA:480880
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Thick lower lip vermilion, Anal atresia, Abnormality of the dentition ORPHA:261652
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:129900
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Clubbing, Thin vermilion border, High palate,... ORPHA:96123
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... OMIM:614188
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Cutis Laxa, Autosomal Recessive, Type Iid
Redundant skin, Kyphoscoliosis, Macrotia, Bulbous nose, Hip dislocation, Wide nasal bridge, Cutis... OMIM:617403
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb OMIM:615272
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Hip dislocation, Cutis laxa OMIM:614100
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol... ORPHA:252164
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... OMIM:615789
Williams-Beuren Syndrome
Osteopenia, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, Clinodactyly of the 5t... OMIM:194050
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu valgum, Downturned corners o... OMIM:619321
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2108
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Scaling skin, Death in childhood, Neonatal death, Subungual hyperkeratosis, Dea... OMIM:308205
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon... OMIM:619179
Fanconi Anemia, Complementation Group D2
Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli... OMIM:227646
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... OMIM:119500
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing impairment, Joint laxity, Anteverted... OMIM:157800
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Kbg Syndrome
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cutaneous s... OMIM:148050
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Bifid uvula OMIM:617660
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux OMIM:263630
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... OMIM:122880
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Camptodactyly of finger, Abnormal ... ORPHA:2092
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Joint stiffness, Micrognat... OMIM:618820
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing impairment, Gast... ORPHA:1018
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... ORPHA:434179
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis, Striae distensae OMIM:219080
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... ORPHA:522077
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High palate, Narrow mout... OMIM:123790
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Skin rash, Oral mucosal blisters, Intestinal perforation, A... ORPHA:95455
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... OMIM:234100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Anteverted nares, Uplifted earlobe, Micrognathia, Broad nasal tip, Pect... OMIM:618548
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Striae distensae OMIM:610475
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia OMIM:234050
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge, Malar flattening, Sh... OMIM:613038
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Anteriorly placed anus, Wide mouth, Sho... ORPHA:1708
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... ORPHA:261552
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Velocardiofacial Syndrome
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... OMIM:192430
Noonan Syndrome 3
Hypoplastic nasal bridge, Posteriorly rotated ears, Thickened helices, Sagittal craniosynostosis,... OMIM:609942
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis... OMIM:277380
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesophageal fistula, C... ORPHA:887
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... OMIM:261540
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... ORPHA:2909
Rubinstein-Taybi Syndrome 1
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:180849
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Microtia, third degree, Redundant skin, Abnormal nasal morpholo... OMIM:200110
Neuroocular Syndrome
Hyperextensibility of the finger joints, Downturned corners of mouth, Widely spaced teeth, Torus ... OMIM:619539
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the tongue, Orofacial cl... ORPHA:2990
Timothy Syndrome
Microdontia, Thin upper lip vermilion, Cutaneous syndactyly OMIM:601005
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353281
Rhyns Syndrome
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... OMIM:602152
Carpenter Syndrome 1
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet... OMIM:201000
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A... ORPHA:101085
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Thick lower lip vermilion, Macroglossia... OMIM:309900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Low-set ears, Long philtrum, Short nose, ... OMIM:103050
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin ulcer, Ar... OMIM:615688
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Barber-Say Syndrome
Delayed eruption of teeth, Wide mouth ORPHA:1231
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Sensorineural hearing impairme... ORPHA:2072
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C... OMIM:265380
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Esophageal varix OMIM:232500
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroesophageal ... ORPHA:138
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge, Multiple palmar creases OMIM:611936
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Eczema, Narrow nasal ... ORPHA:464306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:352665
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... ORPHA:521445
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... ORPHA:2136
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... OMIM:606170
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Ablepharon Macrostomia Syndrome
Toe syndactyly, Anteverted nares, Redundant skin, Camptodactyly of finger, Depressed nasal bridge... ORPHA:920
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Overfolded helix, Low-set ears, Narrow mouth, Short nose OMIM:613735
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... OMIM:615948
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:158350
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly OMIM:613819
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... OMIM:249000
Frontofacionasal Dysplasia
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... OMIM:229400
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... ORPHA:769
Genitopatellar Syndrome
Delayed eruption of teeth, Long philtrum, Micrognathia ORPHA:85201
Prader-Willi Syndrome
Syndactyly, Thin upper lip vermilion, Carious teeth, Acromicria, Small hand, Narrow palm, Genu va... OMIM:176270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short hard palate, Genu varum ORPHA:1969
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... OMIM:112250
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Hematemesis, ... OMIM:301068
Toriello-Lacassie-Droste Syndrome
Brachydactyly, Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Hearing impairment ORPHA:3339
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Protruding tong... OMIM:214100
Cockayne Syndrome Type 1
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely sp... ORPHA:90321
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98795
Cadds
Short nose, Sensorineural hearing impairment, Micrognathia ORPHA:369942
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Intestinal malrotation, Cleft... OMIM:616268
Hartsfield Syndrome
Syndactyly, Median cleft lip, Cleft upper lip, Cleft palate, Ectrodactyly, Hypoplasia of the fron... OMIM:615465
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Hearing impairment, Micrognathia, Short neck, High, narrow ... OMIM:163950
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil... OMIM:619777
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Sensorineural hearing impairment, Gout, Wide mouth, High palate, Low-set ... OMIM:300661
Dyskeratosis Congenita, Autosomal Dominant 6
Nail dystrophy, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate OMIM:266270
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ... ORPHA:453499
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Downturned corners of mouth, Short p... ORPHA:264200
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Striae distensae OMIM:610489
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, Micro... OMIM:617062
Kabuki Syndrome 1
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ... OMIM:147920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Rickets, Esophageal varix, Re... OMIM:613658
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... OMIM:619879
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Choanal atresia, Cleft palate, Cutis laxa, Rectovaginal fistula, Low-set ... OMIM:270420
Long Qt Syndrome 8
Syndactyly OMIM:618447
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Lumbar hyperlordosis, Joint stiffness, Short neck, Flexion contracture, Lumb... ORPHA:505248
Wolman Disease
Esophageal varix, Steatorrhea ORPHA:75233
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Single transverse palmar crease, High, narrow palate, Protruding ear, Abnormal curvatu... OMIM:619475
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Congenital Sialidosis Type 2
Polydactyly, Gingival overgrowth, Protruding tongue ORPHA:93400
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... OMIM:135500
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... ORPHA:978
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Abnormality of the upper limb, ... ORPHA:1556
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Wide mouth, Long ear, Short nose, Joint hypermobility ORPHA:293948
Icf Syndrome
Macroglossia, Malabsorption, Micrognathia, Protruding tongue ORPHA:2268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353277
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Cholesteryl Ester Storage Disease
Death in infancy, Esophageal varix, Steatorrhea OMIM:278000
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:411511
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Pachyonychia Congenita 3
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... OMIM:615726
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip... ORPHA:96147
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Esophageal varix ORPHA:367
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Redundant skin, Hip dislocati... ORPHA:90348
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... ORPHA:534
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Micrognathia, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, Broad alveolar ... OMIM:616975
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements ORPHA:99949
Opitz Gbbb Syndrome
Natal tooth, Micrognathia, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High... ORPHA:2745
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... ORPHA:468699
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... ORPHA:99956
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Microglossia, Narrow mouth ORPHA:990
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Down Syndrome
Sandal gap, Aganglionic megacolon, Single transverse palmar crease, Protruding tongue, Hypoplasti... OMIM:190685
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M... OMIM:301072
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Methimazole Embryofetopathy
Esophageal atresia, Choanal atresia, Tracheoesophageal fistula ORPHA:1923
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Joubert Syndrome 1
Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Triangul... OMIM:213300
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia OMIM:619869
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Tongue atrophy, Tongue fasciculations OMIM:211530
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... OMIM:236680
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Lead Poisoning
Delayed eruption of teeth ORPHA:330015
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Esophag... ORPHA:2896
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Chronic Graft Versus Host Disease
Esophageal stricture, Erythema, Flexion contracture, Xerostomia, Skin ulcer, Abnormal esophagus p... ORPHA:99921
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Osteoporosis, Striae distensae, Increased susceptibility to fractures ORPHA:189427
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... OMIM:603457
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... ORPHA:131
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia OMIM:259600
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption ORPHA:47
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
U-Shaped upper lip vermilion, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finge... OMIM:309580
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly ORPHA:2169
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Nail dystrophy OMIM:615190
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty... ORPHA:564
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Abnormal fing... ORPHA:79404
Cushing Disease
Acne, Intra-oral hyperpigmentation, Osteoporosis, Skin ulcer, Recurrent cutaneous fungal infectio... ORPHA:96253
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue OMIM:148210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Osteoporosis, Hepatocellular adenoma ORPHA:264580
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Protruding tongue OMIM:619580
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Esophageal varix, Depressed nasal ... ORPHA:731
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Cholestasis, Progressive Familial Intrahepatic, 8
Pruritus, Esophageal varix OMIM:619662
Incontinentia Pigmenti
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth OMIM:308300
Arima Syndrome
Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Occipital m... OMIM:243910
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... ORPHA:2785
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... OMIM:236700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Arachnodactyly, Redundant skin, Pectus excavatum, Cutis laxa, Umbilical hernia OMIM:219100
Wilson Disease
Osteomalacia, Osteoarthritis, Esophageal varix, Osteoporosis, Dysphagia, Hepatocellular carcinoma... OMIM:277900
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98794
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pectus excavatum, Pyloric ste... OMIM:235730
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Gingival overgrowth ORPHA:508542
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth ORPHA:93325
Sirenomelia
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... ORPHA:3169
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Tetraamelia Syndrome 1
Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Hypoplastic pelvis, L... OMIM:273395
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Ag... OMIM:181270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Upper limb amyotro... ORPHA:466768
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Talipes equinovarus, Micrognathia OMIM:601374
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Broad fi... OMIM:619534
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb ORPHA:2211
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra OMIM:208060
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly ORPHA:110
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum ORPHA:1051
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... OMIM:620186
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Fraser Syndrome
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocc... ORPHA:2052
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Agenesis of maxillary lateral incisor OMIM:210900
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... OMIM:107480
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Anal atresia OMIM:617666
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79444
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Microtia-Anotia
Anotia, Microtia OMIM:600674
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Neonatal death OMIM:263200
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... ORPHA:201
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth OMIM:617799
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer, Steatorrhea, Fat malabsorption ORPHA:811
Adrenocortical Carcinoma
Striae distensae ORPHA:1501
Hypermobile Ehlers-Danlos Syndrome
Osteoarthritis, Abnormality of the gingiva, Gastrointestinal dysmotility, Anorectal anomaly, Ging... ORPHA:285
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Intra-oral hyperpigmentat... ORPHA:99889
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Tooth abscess, Malabsorption ORPHA:289176
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,... OMIM:619841
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Adnp Syndrome
Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum ORPHA:404448
Microphthalmia, Syndromic 1
Syndactyly, Dental crowding, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Cleft upper ... OMIM:309800
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose, Thick vermilion border, Long philtrum OMIM:252160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, Inflammation of the lar... ORPHA:79259
Caroli Disease
Pruritus, Cholangiocarcinoma, Esophageal varix ORPHA:53035
Currarino Syndrome
Sacrococcygeal teratoma, Abnormal intestine morphology, Aplasia/Hypoplasia of the sacrum ORPHA:1552
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Epistaxis, Gastrointestinal hemorrhage ORPHA:774
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Thoracic scoliosis, Allergic rhinitis, Sensorineural hearing impairment, Hyp... OMIM:176690
Cockayne Syndrome A
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... OMIM:216400
Cirrhosis, Familial
Esophageal varix OMIM:215600
Congenital Tracheomalacia
Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fistula, Cuti... ORPHA:95430
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Angelman Syndrome
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:72
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab... ORPHA:1359
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79443
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... OMIM:133540
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Furrowed tongue OMIM:158310
Fraser Syndrome 3
Short toe, Micrognathia, Cutaneous syndactyly OMIM:617667
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Nelson Syndrome
Abnormality of the sphenoid sinus, Striae distensae ORPHA:199244
Lysosomal Acid Lipase Deficiency
Pruritus, Esophageal varix, Steatorrhea ORPHA:275761
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... OMIM:157170
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters ORPHA:79396
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Barrett Esophagus
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration OMIM:614266
Giant Cell Arteritis
Glossitis ORPHA:397
Camurati-Engelmann Disease
Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth ORPHA:1328
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Caroli Syndrome
Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena ORPHA:480520
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Dyskeratosis Congenita, X-Linked
Carious teeth, Esophageal stricture, Osteoporosis, Premature loss of teeth, Oral leukoplakia, Ana... OMIM:305000
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... ORPHA:1587
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth ORPHA:667
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Downturned corner... OMIM:264090
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Thick vermilion border, Long philtrum OMIM:252150
Cardiac Diverticulum
Umbilical hernia, Aplasia/Hypoplasia of the sternum ORPHA:1686
Penile Agenesis
Posteriorly rotated ears, Depressed nasal bridge, Rectal fistula, Anorectal anomaly, Tracheoesoph... ORPHA:49
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Myel... OMIM:306955
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... OMIM:182250
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino... OMIM:620025
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Abnormality of the temporomandibular joint, Protruding tongue ORPHA:258
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... ORPHA:191
Lipodystrophy, Familial Partial, Type 7
Facial wrinkling, Narrow nasal ridge, Dysphagia, Low-set ears, Narrow mouth, Short nose, Dry skin... OMIM:606721
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac disease, Wide mout... ORPHA:2044
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Peroxisome Biogenesis Disorder 4B
Short nose, Single transverse palmar crease, Sensorineural hearing impairment OMIM:614863
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val... ORPHA:744
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Alström Syndrome
Abnormality of dental color, Thoracic scoliosis, Kyphosis, Short toe, Recurrent upper respiratory... ORPHA:64
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Cutis laxa, Hyperextensible skin, Long philtrum, Convex nasal ridge OMIM:123700
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Bilateral Perisylvian Polymicrogyria
Micrognathia, Protruding tongue ORPHA:98889
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Microsporidiosis
Glossitis ORPHA:2552
Plague
Chapped lip, Abnormality of the elbow, Enterocolitis, Inflammation of the large intestine, Glossitis ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia, Micrognathia OMIM:619525
Sotos Syndrome
Aganglionic megacolon, Abnormality of the dentition, No permanent dentition, Delayed eruption of ... ORPHA:821
Choreoacanthocytosis
Temporomandibular joint crepitus, Protruding tongue ORPHA:2388
Cleft Lip And Alveolus
Lip pit, Abnormal nasal morphology, Hypodontia, Dysphagia, Abnormal nasal septum morphology ORPHA:141291

Histopathology

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

There is no histopathology data for Irf6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Irf6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Irf6em1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Irf6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Irf6em1(IMPC)Wtsi Point Mutation Mice
Irf6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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