Registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 39 (metal ion transporter), member 13
Synonyms:
1100001L14Rik,  ZIP13

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc39a13 mutations

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

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

The table below shows human diseases associated to Slc39a13 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Flexion contractur... ORPHA:157965

The table below shows human diseases predicted to be associated to Slc39a13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Short lower limbs, Abnormality of epiphysis morphology, Pro... ORPHA:2501
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Hypoplas... OMIM:156510
Cranioectodermal Dysplasia
Brachydactyly, Hypotelorism, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the... ORPHA:1515
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Open bite, Hypertelori... ORPHA:61
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Short stature, S... ORPHA:1858
Craniosynostosis 3
Brachydactyly, Right unicoronal synostosis, Left unicoronal synostosis, Sagittal craniosynostosis... OMIM:615314
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Joint laxity, Congenital hip dislocation, Decreased cor... OMIM:229200
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Rubinstein-Taybi Syndrome 2
High palate, Long eyelashes, Carious teeth, Broad hallux, Micrognathia, Downslanted palpebral fis... OMIM:613684
Intellectual Developmental Disorder, Autosomal Recessive 39
Deeply set eye, Short stature, Hallux valgus, Synophrys, Kyphoscoliosis, Dental malocclusion OMIM:615541
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Clinodactyly of the 5th finger, Carious teeth ORPHA:1094
Intermediate Osteopetrosis
Recurrent fractures, Sandwich appearance of vertebral bodies, Erlenmeyer flask deformity of the f... ORPHA:210110
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Upslanted palpebral fissure, Clinodactyly, Partial duplication of the phalanx of h... OMIM:616331
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Kyphosis, Short palm, Joint laxity, Thick lower lip vermilion, ... OMIM:300431
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Micrognathia, Disproportionate short stature, S... OMIM:618363
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Coxa valga, Long philtrum, Elbow flexion contracture, Second metatarsal posterior... OMIM:214150
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Ovoid verteb... OMIM:608940
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly, Joint laxity, Sparse eyebrow, High, narrow palate, Epicanthus, Dental malocclusion OMIM:619692
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Diaphyseal thickening, Generalized osteosclerosis, Mandibular prognathia, A... ORPHA:3416
Mulibrey Nanism
Hypoplastic frontal sinuses, Hypertelorism, Intrauterine growth retardation, Corneal dystrophy, E... OMIM:253250
Muenke Syndrome
Brachydactyly, High palate, Clinodactyly, Thimble-shaped middle phalanges of hand, Hypertelorism,... OMIM:602849
Cerebellofaciodental Syndrome
Short neck, Sparse eyebrow, Tapered finger, Short stature, Scoliosis, Slender long bone, Dental m... OMIM:616202
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Metaphyseal wid... OMIM:265900
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Osteolysis, Abnormality... ORPHA:2776
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Intrauterine growth retardation, Enamel hypoplasia, U-Shaped upper lip v... OMIM:234250
Frank-Ter Haar Syndrome
Brachydactyly, Short philtrum, Deeply set eye, Joint stiffness, Delayed eruption of teeth, Kyphos... ORPHA:137834
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Patchy distortion of ver... OMIM:155050
Hemifacial Atrophy, Progressive
Tongue atrophy, Deeply set eye, Kyphosis, Delayed eruption of teeth, Horner syndrome, Blepharophi... OMIM:141300
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia, Increased bone mineral density OMIM:190320
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Deeply set eye, Toe clinodactyly, Long philtrum, Spars... ORPHA:261120
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Micrognathia, Small hand, Broad long bones, Epicanthus, Telecanthus, Narrow mouth,... OMIM:257850
Microtriplication 11Q24.1
Short philtrum, Upslanted palpebral fissure, Short neck, Long eyelashes, Thick eyebrow, Clinodact... ORPHA:289522
Ck Syndrome
High palate, Upslanted palpebral fissure, Kyphosis, Hyperlordosis, Micrognathia, Joint hypermobil... OMIM:300831
Mcdonough Syndrome
Short philtrum, Short palpebral fissure, Abnormal palate morphology, Kyphosis, Hypertelorism, Ope... ORPHA:2471
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Open bite, Abnormality of dental eruption, Highly arched eyebrow, Mandib... ORPHA:1327
Satb2-Associated Syndrome Due To A Pathogenic Variant
Deeply set eye, High palate, Bifid uvula, Osteopenia, Long philtrum, Drooling, Abnormality of the... ORPHA:576283
Intellectual Disability, Buenos-Aires Type
High palate, Abnormality of pelvic girdle bone morphology, Hypertelorism, Open bite, Clinodactyly... ORPHA:3079
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Upslanted palpebral fissure, Widely spaced teeth, Short stature, Malar flattening, Dental maloccl... OMIM:616108
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Increased bone mineral density, Pers... OMIM:265800
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Blepharochalasis, Joint laxity, Hypodontia, Everted lower lip vermilion, Gingival ble... OMIM:225410
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Hypotelorism, Finger syndactyly, Delayed eruption of teeth, Short metacarpal, Blepha... OMIM:264475
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Short palm, Joint laxity, Thick lower lip vermilion, ... OMIM:300602
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Thin eyebrow, Microdontia, Micrognathia, Scoliosis, Thin upper lip vermilion, Flat... OMIM:190350
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Short philtrum, Deeply set eye, Long eyelashes, Thick eyebrow, Clinodactyly of the... OMIM:618381
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Hypotelorism, Congenital hip dislocation, Widely-spaced maxillary ce... OMIM:619719
Mcdonough Syndrome
Short philtrum, Upslanted palpebral fissure, Clinodactyly, Hypertelorism, Micrognathia, Ptosis, F... OMIM:248950
Warburg Micro Syndrome 1
Narrow mouth, Deeply set eye, Developmental cataract, Microcornea, Osteoporosis, Micrognathia, Jo... OMIM:600118
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Moderate intrau... ORPHA:293967
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Hypertelorism, Upper limb undergrowth, Short stature, Pathologic fracture, Dent... ORPHA:166277
Dysostosis, Stanescu Type
Macroglossia, Scoliosis, Massively thickened long bone cortices, Hypoplasia of the zygomatic bone... ORPHA:1798
Mental Retardation, Buenos Aires Type
High palate, Hypertelorism, Long eyelashes, Clinodactyly of the 5th finger, Carious teeth, Blue i... OMIM:249630
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly, Upslanted palpebral fissure, Short neck, Micrognathia, Downslanted palpebral fissu... ORPHA:436245
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Pierpont Syndrome
Deeply set eye, Short neck, Hypertelorism, Joint laxity, Telecanthus, Everted lower lip vermilion... ORPHA:487825
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Disproporti... OMIM:271530
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Deeply set eye, Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retarda... OMIM:608154
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... ORPHA:79106
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Genu valgum, High pa... OMIM:305620
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Hypotelorism, Deeply set eye, Osteopenia, Intrauterine growth retardati... OMIM:612940
Momo Syndrome
High palate, Congenital pseudoarthrosis of the clavicle, Short neck, Long philtrum, Delayed erupt... ORPHA:2563
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Brachydactyly, High palate, Increase... ORPHA:763
Pierpont Syndrome
Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Short toe, Narrow palpebral fissure,... OMIM:602342
Zimmermann-Laband Syndrome
Bifid uvula, Thick eyebrow, Gingival fibromatosis, Micrognathia, Macroglossia, Hallux valgus, Tel... ORPHA:3473
Arthrogryposis, Distal, Type 5
Deeply set eye, High palate, Clinodactyly, Distal arthrogryposis, Keratoglobus, Limited wrist ext... OMIM:108145
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Brachydactyly, Deeply set eye, Metaphyseal irregularity, Osteopenia, Flexion contracture, Long ph... OMIM:616007
Monosomy 5P
High palate, Finger syndactyly, Recurrent fractures, Intrauterine growth retardation, Short neck,... ORPHA:281
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Deeply set eye, High palate, Short philtrum, Open mouth, Hypodontia, Everted lower lip vermilion,... OMIM:618342
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Platyspondyly, Flared metaphysis, Wide anterior fontanel, Short stature, Malar ... OMIM:601561
Blepharophimosis-Impaired Intellectual Development Syndrome
Thick eyebrow, Clinodactyly of the 5th finger, Microdontia, Widely spaced teeth, Exaggerated cupi... OMIM:619293
Cornelia De Lange Syndrome 5
Long philtrum, Clinodactyly of the 5th finger, Widely spaced teeth, Micrognathia, Ptosis, Highly ... OMIM:300882
Stickler Syndrome Type 1
Long philtrum, Abnormality of epiphysis morphology, Cataract, Abnormality of vertebral epiphysis ... ORPHA:90653
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Blue irides, Scoliosis, S... OMIM:101800
Short Syndrome
Deeply set eye, Clinodactyly, Delayed eruption of teeth, Intrauterine growth retardation, Joint l... OMIM:269880
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Deeply set eye, Carious teeth, Thick lower lip vermilion, Ptosis, Highly arched eye... ORPHA:457365
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Spinal canal stenosis, Mandibular prog... ORPHA:950
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Osteopenia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Os... OMIM:601812
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Wilson-Turner Syndrome
Deeply set eye, Thick eyebrow, Tapered finger, Micrognathia, Short stature, Small hand, Malar pro... ORPHA:3459
Brittle Cornea Syndrome
Corneal dystrophy, Abnormality of epiphysis morphology, Keratoglobus, Corneal scarring, Increased... ORPHA:90354
Seckel Syndrome 1
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Proportionate short stature,... OMIM:210600
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Micrognathia, Arthrogryposis multiplex congenita, Hip disloc... OMIM:610758
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Corneal opacity, Broad metacarpals, Osteol... OMIM:277950
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Hyperopic astigmatism, Blepharophimosis, Cone-shaped epiphy... ORPHA:397973
Keratoconus Posticus Circumscriptus
Brachydactyly, Cleft upper lip, Short neck, Hypertelorism, Clinodactyly of the 5th finger, Centra... OMIM:244600
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Deeply set eye, High palate, Long philtrum, Long eyelashes, Prominent protruding coccyx, Thick ey... ORPHA:480907
48,Xxyy Syndrome
Upslanted palpebral fissure, Hypertelorism, Delayed eruption of teeth, Open bite, Clinodactyly of... ORPHA:10
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Ankylosis, Mandibular condyle hypoplas... OMIM:614669
Metatropic Dysplasia
Abnormal cortical bone morphology, Joint stiffness, Kyphosis, Abnormal enchondral ossification, A... ORPHA:2635
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Spinal canal stenosis,... OMIM:263540
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Aarskog-Scott Syndrome
Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Ptosis, Small hand, E... ORPHA:915
Harrod Syndrome
Narrow mouth, High palate, Hypotelorism, Abnormality of pelvic girdle bone morphology, Kyphosis, ... ORPHA:2115
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Short philtrum, Deeply set eye, Hypertelorism, Intrauterine growth retardation, Ta... OMIM:614257
Van Maldergem Syndrome 2
Clinodactyly, Tracheomalacia, Tented upper lip vermilion, Micrognathia, Ptosis, Scoliosis, Epican... OMIM:615546
Pde4D Haploinsufficiency Syndrome
Long philtrum, Cone-shaped epiphysis, Micrognathia, Ptosis, Mandibular prognathia, Short toe, Nar... ORPHA:439822
Larsen-Like Syndrome
Bipartite calcaneus, Hypertelorism, Joint laxity, Clinodactyly of the 5th finger, Wide anterior f... OMIM:608545
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, High palate, Clinodactyly, Deeply set eye, Intrauterine growth retardation, Open m... OMIM:613604
Fanconi Anemia, Complementation Group S
Upslanted palpebral fissure, Clinodactyly, Hypertelorism, Long eyelashes, Blepharophimosis, Thick... OMIM:617883
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis, High palate, Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral nec... ORPHA:85184
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Short philtrum, High palate, Tapered finger, Downslanted palpebral fissures, Shor... ORPHA:85280
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Van Maldergem Syndrome 1
Clinodactyly, Tracheomalacia, Tented upper lip vermilion, Micrognathia, Ptosis, Scoliosis, Epican... OMIM:601390
Hyperphosphatasia With Mental Retardation Syndrome 6
Deeply set eye, High palate, Clinodactyly, Shortening of all distal phalanges of the fingers, Ost... OMIM:616809
Rhyns Syndrome
Deeply set eye, Osteopenia, Abnormality of long bone morphology, Ptosis, Abnormal acetabulum morp... ORPHA:140976
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Narrow mouth, Short philtrum, Upslanted palpebral fissure, Slender finger, Kyphosis, Long philtru... OMIM:618443
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Hypertelorism, Deviation of finger, Cortically dens... OMIM:269500
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Micrognathia, Prot... OMIM:259600
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Corneal opacity, Mic... OMIM:166300
Geroderma Osteodysplasticum
Deeply set eye, Osteopenia, Recurrent fractures, Vertebral compression fracture, Severe short sta... OMIM:231070
Progressive Hemifacial Atrophy
Deeply set eye, Heterochromia iridis, Ptosis, Abnormal mandible morphology, Micrognathia ORPHA:1214
20Q11.2 Microdeletion Syndrome
Brachydactyly, Short philtrum, Deeply set eye, Hypertelorism, Intrauterine growth retardation, Ad... ORPHA:444051
Acrootoocular Syndrome
Sandal gap, Micrognathia, High, narrow palate, Short toe, Epicanthus, Prominent calcaneus, Hypote... ORPHA:2980
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, High palate, Hypotelorism, Deeply set eye, Flexion contracture, Scapulohumeral syno... OMIM:602471
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Trisomy 4P
Abnormal palate morphology, Short neck, Camptodactyly of finger, Radial club hand, Thick eyebrow,... ORPHA:1738
Fryns Macrocephaly
Short upper lip, Short philtrum, Short neck, Everted lower lip vermilion, Knee flexion contractur... OMIM:600302
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Severe short stature, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Three M Syndrome 2
High palate, Clinodactyly, Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Intraut... OMIM:612921
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Short philtrum, Kyphosis, Thick eyebrow, Everted lower lip vermilion, Scoliosis, ... ORPHA:2429
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Small hand, T... OMIM:170390
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Clinodactyly, Widely spaced teeth, Micrognathia, Scoliosis, Wide mouth OMIM:300934
Jackson-Weiss Syndrome
Proptosis, Toe syndactyly, Abnormal palate morphology, Symphalangism affecting the phalanges of t... ORPHA:1540
Frank-Ter Haar Syndrome
Osteoporosis, Micrognathia, Buphthalmos, Anterior concavity of thoracic vertebrae, Thin upper lip... OMIM:249420
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Joint stiffness, Trismus, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis,... OMIM:616583
Faciocardiomelic Syndrome
Osteopenia, Long philtrum, Micrognathia, Ptosis, Polydactyly, Thin bony cortex, Cuboid-shaped ver... OMIM:612731
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, General... ORPHA:251028
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye, Long philtrum, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Th... OMIM:301024
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Neonatal short-limb short stature, Cervical kyphosis, D... OMIM:222600
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, Craniosynostosis, Delayed eruption of teeth, Coronal c... OMIM:614188
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis, Hypodontia, S... ORPHA:63442
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Aplasia/Hypoplasia of the distal phalanges of the toes, Microdonti... ORPHA:1248
Keipert Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Short hal... ORPHA:2662
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, Deeply set eye, 2-3 toe syndactyly, Polydactyly, Malar flattening, Po... OMIM:615984
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Deeply set eye, Shortening of all distal phalanges of the fin... OMIM:301900
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Hypoplasia of the maxilla, Downslanted palpebral fissures, Short sta... ORPHA:261295
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Hypertelorism, Craniofacial hype... ORPHA:2484
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, High palate, Short palpebral fissure, Deeply set eye, Short neck, Long philtrum, S... OMIM:617157
Trisomy 9P
Brachydactyly, Deeply set eye, Impacted tooth, Short neck, Kyphosis, Sacral dimple, Non-midline c... ORPHA:236
Alazami Syndrome
Deeply set eye, Short philtrum, Thick vermilion border, Short palpebral fissure, Slender long bon... ORPHA:319671
Cohen Syndrome
Short philtrum, Thoracic scoliosis, Delayed puberty, Short metacarpal, Open mouth, Thick eyebrow,... OMIM:216550
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Shallow orbits, Short neck, Broad hallux, Hypoplasia of the maxilla, Preaxial h... OMIM:101120
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Short palpebral fissure, Upslanted palpebral fissure, Deeply set eye, Long philtru... OMIM:617763
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Deeply set eye, High palate, 2-3 toe syndactyly, Intrauterine growth retardation, Long eyelashes,... ORPHA:502434
Cdkl5-Deficiency Disorder
Deeply set eye, Broad proximal phalanges of the hand, Kyphosis, Everted lower lip vermilion, Deep... ORPHA:505652
Gapo Syndrome
Abnormal palate morphology, Abnormality of pelvic girdle bone morphology, Long philtrum, Delayed ... ORPHA:2067
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Short distal phalanx of toe, Natal tooth, Short distal phalanx of finger, Mandibul... OMIM:601957
Short Syndrome
Brachydactyly, Deeply set eye, Abnormal anterior chamber morphology, Hypertelorism, Short palm, H... ORPHA:3163
48,Xxxy Syndrome
Upslanted palpebral fissure, Coxa valga, Delayed eruption of teeth, Open bite, Abnormality of epi... ORPHA:96263
Grant Syndrome
Bowing of the long bones, Abnormal palate morphology, Abnormality of pelvic girdle bone morpholog... ORPHA:2097
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Thoracic kyphoscoliosis, Flexion contracture, Severe post... OMIM:203550
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Downslanted palpebral fissures, Macrodontia of permane... OMIM:618729
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Blepharophimosis, Lacrimal duct atresia, Downslanted palpebral fissures, Hypoplasia... ORPHA:1529
Hajdu-Cheney Syndrome
Tall lumbar vertebral bodies, Long philtrum, Thick eyebrow, Osteoporosis, Micrognathia, Epicanthu... OMIM:102500
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Flattened metatarsal heads, Joi... ORPHA:564003
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... ORPHA:85188
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Irregular carpal bones, A... ORPHA:750
49,Xxxxy Syndrome
Upslanted palpebral fissure, Open bite, Clinodactyly of the 5th finger, Scoliosis, Mandibular pro... ORPHA:96264
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Brachydactyly, Proptosis, Abnormality of pelvic girdle bone morphology, Intrauterin... ORPHA:2370
Marshall Syndrome
Developmental cataract, Long philtrum, Micrognathia, Small distal femoral epiphysis, Irregular fe... OMIM:154780
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, High palate, Hypertelorism, Long philtrum, Delayed eruption of teet... ORPHA:50814
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... ORPHA:93316
Intellectual Disability, Birk-Barel Type
Short philtrum, Sacral dimple, Contractures involving the joints of the feet, Open mouth, Tented ... ORPHA:166108
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Joint laxity, Osteoporosis, Growth delay, Short stature, Malar flattenin... OMIM:614727
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Long toe, Decreased fibular diameter, Arachnodactyly, Long... OMIM:619489
Freeman-Sheldon Syndrome
Narrow mouth, Deeply set eye, Joint stiffness, Long philtrum, Camptodactyly of finger, Growth del... ORPHA:2053
Shashi-Pena Syndrome
Kyphosis, Osteoporosis, Ptosis, Highly arched eyebrow, Scoliosis, Retrognathia, Hypertelorism, Pr... OMIM:617190
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femora... OMIM:251450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Abnormally prominent line of Schwalbe, Coxa valga, Hypoplasi... OMIM:109120
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Ptosis, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Hypoplastic frontal sinuses, Median cleft palate, Hypertelorism, Cat... OMIM:136760
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Genu varum, Osteopenia, Coxa valga, Microdontia, Carious t... OMIM:269300
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Abnormality of epiphysis morphology, Kyphosis, ... ORPHA:582
Whistling Face Syndrome, Recessive Form
Long philtrum, Trismus, Micrognathia, Ptosis, Epicanthus, Telecanthus, Narrow mouth, High palate,... OMIM:277720
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Developmental cataract, Intrauterine growth retardation, Rocker bottom foot, Cata... OMIM:610756
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, Osteoporosis, Platyspondyly, Sh... ORPHA:71267
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Abnormal palate morphology, Heterochromia iridis, Clinodactyly of the 5th finger, ... ORPHA:1390
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Sacral dimple, Long philtrum, Long eyelashes, Short stature, Cleft palate, Epicanth... OMIM:615502
2q37 monosomy
Brachydactyly, Thin upper lip vermilion, Deeply set eye DECIPHER:44
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormality of the cervical s... ORPHA:73
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Osteopo... OMIM:184260
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Hypotelorism, Cleft upper lip, Iris coloboma, Ptosis, Eyelid coloboma, Downslante... OMIM:268850
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Micrognathia, Scoliosis,... OMIM:252100
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Deeply set eye, High palate, Retrognathia OMIM:617915
Urban-Rogers-Meyer Syndrome
Brachydactyly, Upslanted palpebral fissure, Toe syndactyly, Short neck, Recurrent fractures, Abno... ORPHA:3409
Oculodentodigital Dysplasia
Upslanted palpebral fissure, Clinodactyly, Clinodactyly of the 5th finger, Micrognathia, Mandibul... ORPHA:2710
Hamamy Syndrome
High palate, Clinodactyly, Craniosynostosis, Osteopenia, Long philtrum, Short 2nd finger, Sparse ... OMIM:611174
Mucopolysaccharidosis, Type Iva
Widely spaced teeth, Osteoporosis, Disproportionate short-trunk short stature, Pointed proximal s... OMIM:253000
Sanjad-Sakati Syndrome
Deeply set eye, Long philtrum, Astigmatism, Corneal opacity, Patchy osteosclerosis, Severe intrau... ORPHA:2323
Hypophosphatasia, Childhood
Premature loss of primary teeth, Bowing of the legs, Craniosynostosis, Carious teeth, Short statu... OMIM:241510
Mucopolysaccharidosis, Type Ivb
Widely spaced teeth, Osteoporosis, Disproportionate short-trunk short stature, Pointed proximal s... OMIM:253010
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Short neck, Multiple joint contractures, Intrauterine growth retardation, Blephar... ORPHA:2570
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Intrauterine growth retardation, Abnormality of the cervical spine, Long eyelashes, Mic... ORPHA:48431
Lowry-Maclean Syndrome
Proptosis, Craniosynostosis, Osteopenia, Intrauterine growth retardation, Developmental glaucoma,... ORPHA:2409
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Deeply set eye, Short philtrum, High palate, Upslanted palpebral fissure, Intrauterine growth ret... ORPHA:363686
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Sandal gap, Clinodactyly... OMIM:617877
Momo Syndrome
High palate, Short neck, Delayed eruption of teeth, Long philtrum, Short sternum, Hypertelorism, ... OMIM:157980
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Kyphosis, Long philtrum, Drooling, Postaxial polydactyly, Sacral dim... OMIM:615761
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Shprintzen-Goldberg Craniosynostosis Syndrome
Shallow orbits, Micrognathia, Ptosis, Scoliosis, Metaphyseal widening, Telecanthus, Genu valgum, ... OMIM:182212
Rhizomelic Chondrodysplasia Punctata, Type 1
Upslanted palpebral fissure, Coronal cleft vertebrae, Developmental cataract, Flexion contracture... OMIM:215100
Arthrogryposis, Distal, Type 2A
Long philtrum, Ptosis, Scoliosis, Mandibular prognathia, Epicanthus, Telecanthus, Hip dislocation... OMIM:193700
Harel-Yoon Syndrome
Deeply set eye, Upslanted palpebral fissure, Micrognathia, Scoliosis, Mandibular prognathia, Hip ... OMIM:617183
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Malar flattening, Short tibi... OMIM:118651
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Deeply set eye, High palate, Clinodactyly, Short palm, Tapered finger, Hypoplasia of the maxilla,... ORPHA:85279
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Hypertelorism, Clinodactyly of the 3rd toe, Carious teeth, Increased susceptibility to fractures,... OMIM:604922
Myopathy, Myofibrillar, 8
Achilles tendon contracture, High palate, Distal joint laxity, Impaired mastication, Micrognathia... OMIM:617258
Coffin-Lowry Syndrome
Narrow iliac wing, Everted lower lip vermilion, Widely spaced teeth, Tapered finger, Scoliosis, E... ORPHA:192
Diastrophic Dysplasia
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Bowing of the long bones, Increased bone mi... ORPHA:628
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Upslanted palpebral fissure, Flattened epiphysis, Hypertelorism, Fibular hypoplasi... ORPHA:166016
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Broad hallux, High, narrow palate, Downslanted palpebral fissures, Atlantoaxial abnorma... ORPHA:3433
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Short philtrum, Short neck, Kyphosis, Genu valgum, Spina bifida occulta, Synophry... ORPHA:2983
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Delayed eru... OMIM:277440
Fetal Akinesia Deformation Sequence 4
High palate, Flexion contracture, Short neck, Kyphosis, Rocker bottom foot, Micrognathia, Arthrog... OMIM:618393
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Unilateral narrow palpebral fissure, Conical tooth, Enamel hypoplasi... OMIM:618727
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Schwartz-Jampel Syndrome
Abnormally straight spine, Long philtrum, Trismus, Everted lower lip vermilion, Osteoporosis, Mic... ORPHA:800
Xq27.3Q28 Duplication Syndrome
Deeply set eye, Intrauterine growth retardation, Short stature, Small hand, Thin vermilion border... ORPHA:261483
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Gand Syndrome
Deeply set eye, Short philtrum, Long toe, Blepharophimosis, Long fingers, Narrow palpebral fissur... OMIM:615074
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Proptosis OMIM:608432
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Smith-Magenis Syndrome
Upslanted palpebral fissure, Clinodactyly of the 5th finger, Tented upper lip vermilion, Microgna... ORPHA:819
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Thickened cort... OMIM:607634
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, C... ORPHA:94068
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Deeply set eye, Short philtrum, Upslanted palpebral fissure, Hypotelorism, Clinodactyly of the 5t... OMIM:618672
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Developmental cataract, Microcornea, Short phala... OMIM:302350
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Kyphosis, Recurrent fracture... OMIM:259420
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Amelogenesis imperfecta, Intervertebral space narrowing, Oli... OMIM:601216
Alazami Syndrome
Deeply set eye, Short philtrum, Thick vermilion border, Severe short stature, Scoliosis, Malar fl... OMIM:615071
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... ORPHA:3098
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Kyphosis, Joint laxity, Mild short stature, Increased susce... OMIM:130060
Weill-Marchesani Syndrome 1
Brachydactyly, Shallow anterior chamber, Joint stiffness, Shallow orbits, Microspherophakia, Cata... OMIM:277600
Lessel-Kreienkamp Syndrome
Deeply set eye, Upslanted palpebral fissure, Open mouth, Clinodactyly of the 5th finger, Epicanth... OMIM:619149
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Hip dislocation, Long upper lip, High palat... ORPHA:93359
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Sclerocornea, Oligodontia, Abnormal metacarpal morphology, Astigmatism,... ORPHA:2095
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Short neck, Short metacarpal, Cataract, Thick lower lip... OMIM:123450
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Long philtrum, Short palm, Long eyelashes, Short metacarpal... OMIM:102370
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Cone-shaped epiphyses of the middle phalanges of the hand, Coxa magna, Osteopenia,... OMIM:190351
Potocki-Lupski Syndrome
High palate, Hypertelorism, Micrognathia, Downslanted palpebral fissures, Short stature, Dental c... OMIM:610883
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal sacrum morphology, Proptosis, Abnormal palate morphology, Abnormal form o... ORPHA:93262
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis, Short long bone ORPHA:1423
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Flexion contracture, Long philtrum, Delayed eruption of teeth... ORPHA:263463
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Deeply set eye, Osteopenia, Thick eyebrow, Thick lower lip vermilion, Sparse eyebrow, High, narro... OMIM:617268
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Finger syndactyly, Long philtrum, Camptodactyly of finger, Short neck, Blepharo... ORPHA:178303
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Phocomelia, Non-midline cleft lip, Aplasia/Hypoplasi... ORPHA:245
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Deeply set eye, Long philtrum, Cataract, Short phalanx of finger, Ptosis, Short stature, Retrogna... OMIM:300845
Mucolipidosis Type Iii
Abnormal hip bone morphology, Hypoplastic inferior ilia, Joint stiffness, Abnormal form of the ve... ORPHA:577
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Delayed eru... OMIM:264700
Oculodentodigital Dysplasia
Clinodactyly, Microdontia, Epicanthus, Cleft palate, Hip dislocation, Cleft upper lip, Enamel hyp... OMIM:164200
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Severe short stature, Scoliosis, Genu valgum OMIM:168400
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Cole-Carpenter Syndrome 2
High palate, Lambdoidal craniosynostosis, Narrow iliac wing, Osteopenia, Kyphosis, Coronal cranio... OMIM:616294
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Disproportionate short-limb short stature, Recurrent fractures,... OMIM:259440
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Oligodontia, Everted lower lip vermilion, Tapered finger, Downslanted palpebral fissure... ORPHA:276630
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Dental crowding, Anterior open-bite malocclusio... OMIM:602483
Robinow Syndrome, Autosomal Dominant 3
Upslanted palpebral fissure, Clinodactyly, Long philtrum, Micrognathia, Scoliosis, Epicanthus, Te... OMIM:616894
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Recurrent fractures, Delayed eruption of teeth, Intrauterine ... ORPHA:2050
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Clinodactyly of the 5th finger, Lower eyelid c... OMIM:167730
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Generalized osteoporosis, Thoracic scoliosis, Bifid uvula, Osteopenia, Multiple jo... ORPHA:2959
Craniofaciofrontodigital Syndrome
Short neck, Long philtrum, Hypoplastic vertebral bodies, Hypertelorism, Joint hypermobility, Shor... OMIM:114620
Kabuki Syndrome 2
Micrognathia, Highly arched eyebrow, Epicanthus, Cleft palate, Hip dislocation, Brachydactyly, Hi... OMIM:300867
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Short stature, Abnormality of... ORPHA:1193
Pfeiffer Syndrome
High palate, Shallow orbits, Finger syndactyly, Coronal craniosynostosis, Shortening of all middl... OMIM:101600
Alagille Syndrome
Deeply set eye, Short philtrum, Hypoplasia of the ulna, Hypertelorism, Intrauterine growth retard... ORPHA:52
Oliver Syndrome
Short philtrum, High palate, Elbow flexion contracture, Postaxial foot polydactyly, Intrauterine ... ORPHA:2920
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Telecanthus, Carious teeth, Sparse eyebrow, Pr... OMIM:129540
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Abnormality of pelvic girdle bone morphology, Osteopenia, Recurrent ... OMIM:610967
Basilicata-Akhtar Syndrome
Deeply set eye, Short neck, Short palm, Tented upper lip vermilion, Downslanted palpebral fissure... OMIM:301032
Mental Retardation Syndrome, Belgian Type
Deeply set eye, Mandibular prognathia OMIM:249599
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Clinodactyly, Short philtrum, Hypertelorism, Deeply set eye, Fibular h... OMIM:201170
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Short palpebral fissure, Craniosynostosis, Clinodactyly, Long philtrum... OMIM:608156
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Subcapsular cataract, 2-3 toe syndactyly, Open mouth, Sparse eyebrow, Long palpebral fissure, Den... OMIM:600906
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Camptodactyly Syndrome, Guadalajara, Type I
Upslanted palpebral fissure, Bifid uvula, Fibular hypoplasia, Abnormality of dental eruption, Hyp... OMIM:211910
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Deeply set eye, Flexion contracture, Long philtrum, Drooling, Short ... OMIM:301041
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Intrauterine growth retardation, Carious teeth, Decreased skull ossific... ORPHA:93324
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Split han... OMIM:246560
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Cleft Palate, Cardiac Defects, And Mental Retardation
Deeply set eye, Upslanted palpebral fissure, Short 2nd finger, Cleft upper lip, 2-3 toe syndactyl... OMIM:600987
Familial Expansile Osteolysis
Bowing of the long bones, Pathologic fracture, Thin bony cortex, Osteolysis, Fragile teeth, Prema... OMIM:174810
Lichtenstein Syndrome
Metacarpophalangeal joint contracture, Enamel hypoplasia, Carious teeth, Osteoporosis, Increased ... OMIM:246550
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Deeply set eye, Upslanted palpebral fissure, Cataract, Corneal opacity, Micrognathia, Scoliosis, ... ORPHA:496790
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Deeply set eye, Finger syndactyly, Hypertelorism, Microcornea, Telec... ORPHA:313781
Lujan-Fryns Syndrome
Brachydactyly, Short philtrum, High palate, Camptodactyly of finger, Micrognathia, Hypoplasia of ... ORPHA:776
Proteus Syndrome
Open mouth, Mandibular hyperostosis, Ptosis, Facial hyperostosis, Downslanted palpebral fissures,... OMIM:176920
Pettigrew Syndrome
Deeply set eye, Thick vermilion border, Flexion contracture, Scoliosis, Mandibular prognathia, Wi... OMIM:304340
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Hyperlordosis,... ORPHA:970
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Thick vermilion border, Upslanted palpebral fissure, Short palpebra... OMIM:615834
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Short neck, Kyphosis, Rocker bottom foot, Ptosis, Micrognathia, Downslanted palpebra... OMIM:611890
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Upslanted palpebral fissure, Everted lower lip vermilion, Blue irides, Short toe, Epicanthus, Lum... ORPHA:3041
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Type... OMIM:113000
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Rib osteolysis, Micrognathia, Scoliosis, Flexion contracture, Osteolytic defects of... OMIM:614008
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Upslanted palpebral fissure, Short palpebral fissure, Kyphosis, Con... ORPHA:352490
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Cornelia De Lange Syndrome 2
Clinodactyly, Thick eyebrow, Micrognathia, Ptosis, Highly arched eyebrow, Small hand, Thin upper ... OMIM:300590
Van Den Ende-Gupta Syndrome
Everted lower lip vermilion, High, narrow palate, Distal ulnar hypoplasia, Camptodactyly of toe, ... OMIM:600920
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Megalocornea-Intellectual Disability Syndrome
Genu varum, Astigmatism, Everted lower lip vermilion, Tapered finger, Micrognathia, Scoliosis, Ep... ORPHA:2479
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Overlapping fingers, Congenital hip dislocation, Micrognathia, Sco... OMIM:618291
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Carious teeth, Increased bone density ... OMIM:136300
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Clinodactyly of the 5th finger, Abnormal eyelash morphology,... ORPHA:2399
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long philtrum, Abnormal bone ossification, Micrognathia, Delayed patellar ossification, Epicanthu... ORPHA:163649
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Brachydactyly, Clinodactyly, Deeply set eye, Osteopenia, Long philtrum, Short femoral neck, Hypop... OMIM:614813
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, 2-3 toe syndactyly, Tapered finger, Ptosis, Hypoplasia of the m... OMIM:218000
12Q14 Microdeletion Syndrome
Deeply set eye, Intrauterine growth retardation, Thick eyebrow, Hypodontia, Clinodactyly of the 5... ORPHA:94063
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Disproportionate short-tr... OMIM:300106
Hallermann-Streiff Syndrome
Tracheomalacia, Everted lower lip vermilion, Micrognathia, High, narrow palate, Scoliosis, Propor... OMIM:234100
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Hypotelorism, Osteopenia, Contractures of the large joints, Deep philtrum, Micrognat... ORPHA:329178
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Delayed eruption of teeth, Increased bone mineral... ORPHA:289176
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Long philtrum, Contractures involving the joints of the ... ORPHA:444072
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Thick eyebrow, Sandal gap, Tapere... ORPHA:193
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Upslanted palpebral fissure, Toe syndactyly, Abnormal palate morphology, Short neck, Metatarsus v... ORPHA:3082
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Kyphosis, Open bite, Severe short stature, Carious teeth, Micrognathi... ORPHA:2617
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Deeply set eye, Velopharyngeal insufficiency, Thin lower lip vermilion, Carious teeth, Thick uppe... ORPHA:363444
Martsolf Syndrome 1
Short philtrum, High palate, Developmental cataract, Tracheomalacia, Short palm, Short metacarpal... OMIM:212720
Dysosteosclerosis
Delayed eruption of teeth, Recurrent fractures, Increased bone mineral density, Craniofacial hype... ORPHA:1782
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Deeply set eye, Cleft soft palate, Micrognathia, Peters anomaly, Downslanted palpe... OMIM:614526
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Deeply set eye, Kyphosis, Open mouth, Joint laxity, Ptosis, Shor... ORPHA:364028
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Scoliosis, Retrognathia, Small hand, Epicanthus, Narrow mouth, Mild postn... OMIM:235510
Achondrogenesis Type 2
Pierre-Robin sequence, Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossifi... ORPHA:93296
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Narrow mouth, Clinodactyly, Deeply set eye, Long philtrum, Long eyelashes, Sandal gap, Everted lo... OMIM:618089
Beaulieu-Boycott-Innes Syndrome
Deeply set eye, Upslanted palpebral fissure, Short palpebral fissure, Carious teeth, Blepharophim... OMIM:613680
6P22 Microdeletion Syndrome
Deeply set eye, Clinodactyly, Hypotelorism, Abnormal palate morphology, Short neck, Finger syndac... ORPHA:251046
Myhre Syndrome
Bifid uvula, Severe short stature, Ptosis, Mandibular prognathia, Gingival cleft, Cleft palate, N... ORPHA:2588
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Bowing of the long bones, Joint stiffness, Kyphosis, Ovoid vertebral bodies, Abnor... ORPHA:40
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Upslanted palpebral fissure, Long philtrum, Anterior scalloping of vertebral bodies, Curly eyelas... OMIM:611717
Takenouchi-Kosaki Syndrome
Upslanted palpebral fissure, Clinodactyly, Long philtrum, Widely spaced teeth, Tapered finger, Pt... OMIM:616737
Chromosome 2Q37 Deletion Syndrome
Deeply set eye, Short metacarpal, Short phalanx of finger, Highly arched eyebrow, Short stature, ... OMIM:600430
Radio-Tartaglia Syndrome
Upslanted palpebral fissure, Long philtrum, Thick eyebrow, Tapered finger, Micrognathia, High, na... OMIM:619312
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Carious teeth, Osteoarthritis, Generali... ORPHA:53
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Avascular necr... ORPHA:93308
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Failure of eruption of perm... ORPHA:2769
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Hypotelorism, Upslanted palpebral fissure, Abnormality of the philtrum, Microretr... ORPHA:276422
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Aarskog-Scott Syndrome
Clinodactyly, Ptosis, Scoliosis, Cleft palate, Brachydactyly, Cleft upper lip, Short neck, Hypodo... OMIM:305400
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Craniofacial osteosclerosis, Fibular hypoplasia, Clinodactyly of the... OMIM:300373
Trisomy 13
Deeply set eye, Hypotelorism, Abnormality of pelvic girdle bone morphology, Kyphosis, Long philtr... ORPHA:3378
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypertelorism, Everted lower lip vermilion, Short stature, Malar flattening, Mandibular prognathi... OMIM:603463
Joubert Syndrome 14
Deeply set eye, Short philtrum, Open mouth, Tented upper lip vermilion, Growth delay, Ptosis, Hig... OMIM:614424
Chromosome 22Q11.2 Deletion Syndrome, Distal
Deeply set eye, Intrauterine growth retardation, Highly arched eyebrow, Short stature, Malar flat... OMIM:611867
Smith-Magenis Syndrome
Brachydactyly, Deeply set eye, Short palm, Velopharyngeal insufficiency, Synophrys, Malar flatten... OMIM:182290
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Deeply set eye, Long philtrum, Open mouth, Overlapping fingers, High, narrow palate, Joint hyperm... OMIM:618494
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metacarpal, Cataract, Short phalanx of finger, Hypoplasia of the maxilla, Downslanted palpe... OMIM:211370
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Ptosis, Micrognathia, Abnormal... ORPHA:2522
Weill-Marchesani Syndrome 2
Shallow orbits, Astigmatism, Scoliosis, Spinal canal stenosis, Proportionate short stature, Lens ... OMIM:608328
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Vertebral compression fr... OMIM:617952
Dental Ankylosis
Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Deeply set eye, Upslanted palpebral fissure, Short neck, 2-3 toe syndactyly, Broad hallux, Almond... OMIM:300860
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Stickler Syndrome
Long philtrum, Open bite, Astigmatism, Micrognathia, Macroglossia, Protrusio acetabuli, Scoliosis... ORPHA:828
Chondrodysplasia-Disorder Of Sex Development Syndrome
Deeply set eye, Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Hy... ORPHA:1422
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Deeply set eye, Upslanted palpebral fissure, Clinodactyly, Mandibular prognathia, Narrow palpebra... OMIM:618087
Christianson Syndrome
Deeply set eye, Thick eyebrow, Adducted thumb, Mandibular prognathia, Arthrogryposis multiplex co... ORPHA:85278
Apert Syndrome
Bifid uvula, Shallow orbits, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Mandibul... OMIM:101200
Pseudopseudohypoparathyroidism
Brachydactyly, Short neck, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Catara... OMIM:612463
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Proptosis, High palate, Clinodactyly, Distal arthrogryposis, Long philtrum, Overlapping fingers, ... OMIM:618975
Fountain Syndrome
Thick eyebrow, Everted lower lip vermilion, Ptosis, Scoliosis, Epicanthus, Coarse metaphyseal tra... ORPHA:3219
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Cleft upper lip, Blepharophimosis, Caudal ... OMIM:265050
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, High palate, Upslanted palpebral fissure, Clinodactyly, Deeply set eye, Long philtr... OMIM:270450
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Hypertelorism,... ORPHA:90650
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Temporomandibular ... ORPHA:2741
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Lacrimal duct stenosis, Carious teeth, Tapered finger, Down-sloping shoulders, Peri... OMIM:615560
Luo-Schoch-Yamamoto Syndrome
Narrow mouth, Short philtrum, Thick vermilion border, Deeply set eye, Intrauterine growth retarda... OMIM:619460
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Blepharophimosis, Telecanthus, Everted lower lip vermilion, Thick lower lip vermilion, Cataract, ... ORPHA:85321
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, 2-3 toe syndactyly, Hypertelorism, Mandibular prognathia, Postna... ORPHA:2324
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Deeply set eye, High palate, Osteopenia, Slender long bone, Telecanthus, Joint hypermobility, Sco... OMIM:618590
Saethre-Chotzen Syndrome
Open bite, Clinodactyly of the 5th finger, Prominent crus of helix, Ptosis, Scoliosis, Hallux val... ORPHA:794
Osteogenesis Imperfecta, Type Viii
Proptosis, Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal f... OMIM:610915
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Delayed eruption of teeth, Sparse bone trabeculae, Enamel hypoplasia, Tibial bowing, ... ORPHA:289157
Costello Syndrome
Short neck, Keratoconus, Thick lower lip vermilion, Macroglossia, Short stature, Abnormal dental ... ORPHA:3071
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Iris coloboma, Cataract, Thick lower lip vermilion, Hand polydactyly, Sco... OMIM:300337
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Deeply set eye, Bifid uvula, Long philtrum, Short palm, Patchy osteosclerosis, Severe intrauterin... OMIM:241410
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Downslanted palpebral fissures, Short philtrum, Deeply set eye OMIM:300471
Elsahy-Waters Syndrome
Abnormality of the vertebral column, Bifid uvula, Long philtrum, Thick eyebrow, Mandibular progna... OMIM:211380
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Deeply set eye, Short neck, Long philtrum, Patellar hypoplasia, Hypertelorism, Dac... ORPHA:464288
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Severe short stature, Carious teeth, Osteoporosis, Platyspondyly... OMIM:126550
Kennerknecht Syndrome
Deeply set eye, High palate, Toe syndactyly, Hypotelorism, Toe clinodactyly, Short neck, Long eye... OMIM:600908
Gapo Syndrome
Hypertelorism, Keratoconus, Thick lower lip vermilion, Sparse eyebrow, Eruption failure, Microgna... OMIM:230740
Distal 17P13.1 Microdeletion Syndrome
Deeply set eye, High palate, Limitation of knee mobility, Generalized joint laxity, Arachnodactyl... ORPHA:319171
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Hypertelorism, Proportionate short stature, Trismus, Hyperextensible hand joints, Cl... OMIM:227330
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Short upper lip, Short philtrum, Deeply set eye, Astigmatism, Laryngotracheomalacia, Micrognathia... OMIM:616875
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Congenital bilateral ptosis, Dental malocclusion, Micrognathia, Downslanted palpebral fissures, M... OMIM:608257
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Long philtrum, Absent eyelashes, Thick eyebrow, Clinodactyly of the 5th ... ORPHA:228396
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Bowing of the long bones, Neonatal short-limb short statur... OMIM:224400
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Short stature, Osteopetrosis, Dental malocclusion OMIM:259730
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Microdontia, Short thumb, Aplasia/Hypoplasia of the patella,... ORPHA:2909
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Forsythe-Wakeling Syndrome
Deeply set eye, Short stature, Osteoporosis, Growth delay OMIM:613606
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Hypertelorism, Deviation of finger, Prominence of the p... ORPHA:2412
Taurodontism
Taurodontia OMIM:272700
8P23.1 Duplication Syndrome
Deeply set eye, Toe syndactyly, Long philtrum, Highly arched eyebrow, Hypertelorism, Thick vermil... ORPHA:251076
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Gillessen-Kaesbach-Nishimura Syndrome
Short long bone, Flexion contracture, Metaphyseal widening, Short neck, Hypertelorism, Decreased ... OMIM:263210
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Abnormal denta... ORPHA:49042
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Square pelvis bone, Short palm, ... ORPHA:166272
Perlman Syndrome
Broad alveolar ridges, Deeply set eye, Open mouth, Micrognathia, High, narrow palate, Ptosis, Abn... ORPHA:2849
Hall-Riggs Syndrome
Brachydactyly, Thick vermilion border, Joint stiffness, Delayed eruption of teeth, Abnormality of... ORPHA:2107
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Developmental cataract, Metaphyseal sclerosis, Abnormal trabecu... ORPHA:221016
Al-Raqad Syndrome
Narrow mouth, Brachydactyly, Deeply set eye, Sandal gap, Joint laxity, Thin upper lip vermilion OMIM:616459
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Thin eyebrow, Short stature, Abnormal denta... ORPHA:3220
Emanuel Syndrome
Deeply set eye, High palate, Upslanted palpebral fissure, Kyphosis, Long philtrum, Intrauterine g... OMIM:609029
Localized Scleroderma
Deeply set eye, Proptosis, Flexion contracture, Abnormal bone structure, Short dental root, Abnor... ORPHA:90289
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Iris coloboma, Ptosis, Hypoplasia o... ORPHA:207
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Hypertelorism, Epiphys... OMIM:619135
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Upslanted palpebral fissure, Thick eyebrow, Hypoplasia of the maxilla, Sm... OMIM:618737
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Pierre-Robin sequence, Coronal cleft vertebrae, Premature osteoarthritis, Flexion contracture, Sh... OMIM:215150
Phelan-Mcdermid Syndrome
Deeply set eye, High palate, Sacral dimple, Long philtrum, 2-3 toe syndactyly, Long eyelashes, Hy... OMIM:606232
Noonan Syndrome 4
Thick vermilion border, Short neck, Hypertelorism, Sparse eyebrow, Blue irides, Ptosis, Downslant... OMIM:610733
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... ORPHA:485
3Q27.3 Microdeletion Syndrome
Narrow mouth, Short philtrum, Deeply set eye, Downslanted palpebral fissures, Arachnodactyly, Kyp... ORPHA:397695
O'Donnell-Luria-Rodan Syndrome
Downslanted palpebral fissures, Deeply set eye, Tapered finger, Kyphosis OMIM:618512
Intellectual Developmental Disorder, Autosomal Dominant 47
Widely-spaced incisors, Thin eyebrow, Deeply set eye, Wide mouth OMIM:617635
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Limited elbow extension, Downsla... OMIM:180870
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Euryblepharon, Conical tooth, Carious teeth, Ectropion of lower eyelids, Bilat... ORPHA:1997
Ck Syndrome
High palate, Upslanted palpebral fissure, Long toe, Joint hypermobility, Lumbar hyperlordosis, Lo... ORPHA:251383
Chopra-Amiel-Gordon Syndrome
Pierre-Robin sequence, Short philtrum, Upslanted palpebral fissure, Deeply set eye, Cleft lip, Jo... OMIM:619504
Borjeson-Forssman-Lehmann Syndrome
Deeply set eye, Abnormal hip bone morphology, Thick eyebrow, Cataract, Tapered finger, Ptosis, Sh... ORPHA:127
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, High palate, Enamel hypoplasia, Sandal gap, Malar flattening, Mandibular prognathi... OMIM:600991
Eem Syndrome
Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Absent eyebrow, Abnormality o... ORPHA:1897
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Delayed eru... ORPHA:1458
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Joint stiffness, Abnormal pelvis bone ossification, Increased bo... ORPHA:166119
Frontorhiny
Brachydactyly, Hypoplastic frontal sinuses, Iris coloboma, Cataract, Ptosis, Hypoplasia of the ma... ORPHA:391474
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Opacification of the corneal s... OMIM:601559
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Developmental cataract, Abnormal trabecular bone morphology, Me... ORPHA:221008
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Severe short stature, Metaphyseal widening, Epicanthus, C... OMIM:615777
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Hypotelorism, Intrauterine growth retardation, Thick lower lip vermilion, Microgn... OMIM:614104
Cardiofaciocutaneous Syndrome 1
Open bite, Clinodactyly of the 5th finger, Micrognathia, Ptosis, Palpebral thickening, Scoliosis,... OMIM:115150
Nail-Patella Syndrome
Absent distal interphalangeal creases, Clinodactyly of the 5th finger, Ptosis, Scoliosis, Keratoc... OMIM:161200
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Osteoporosis, Micrognathia, Ptosis, Abnormality of femoral epiphysis, Me... OMIM:255800
Marshall Syndrome
High palate, Hypoplastic frontal sinuses, Long philtrum, Ectopia lentis, Cataract, Thick lower li... ORPHA:560
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Disproportionate short-tru... OMIM:223800
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Shallow acetabular fossae, Intrauterine growth retardation, Short... ORPHA:1830
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Upslanted palpebral fissure, Butterfly vertebrae, Osteopenia,... OMIM:611209
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Broad tibial metaphyses, Short neck, Opacification of the ... OMIM:271630
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Hypertelorism, Broad uvula, Joint contracture of the hand, ... OMIM:311450
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short upper lip, Broad toe, Short neck, Short palm, Opacification of the corneal st... OMIM:271960
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Patchy sclerosis of finger phalanx, Facial hyperostosis, Flared metaphysis... OMIM:218400
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, High palate, Clinodactyly, Bifid uvula, Flexion con... OMIM:618658
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Abnormal palate morphology, Flexion contracture, Increased laxity of fingers, Lon... ORPHA:75840
Uruguay Faciocardiomusculoskeletal Syndrome
Dislocation of toes, Kyphosis, Everted lower lip vermilion, Congenital hip dislocation, Downslant... OMIM:300280
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Emanuel Syndrome
Upslanted palpebral fissure, Bifid uvula, Long philtrum, Hooded eyelid, Astigmatism, Micrognathia... ORPHA:96170
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Clinodactyly, Hypoplasia of the lacrimal punctum, Bifid uvula, Abnormal thumb... ORPHA:2363
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Severe short stature, Tapered finger, Thoracolumbar scoliosis, Sclerosis of skull base,... OMIM:313420
Osteoglosphonic Dysplasia
Brachydactyly, Craniosynostosis, Abnormal form of the vertebral bodies, Severe short stature, Rhi... ORPHA:2645
3M Syndrome
Long philtrum, Thick eyebrow, Clinodactyly of the 5th finger, Everted lower lip vermilion, Scolio... ORPHA:2616
Three M Syndrome 1
Slender long bone, Long philtrum, Intrauterine growth retardation, Short neck, Increased vertebra... OMIM:273750
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Brachydactyly, Joint stiffness, Short palm, Intrauterine growth retardatio... OMIM:619184
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Microdontia,... ORPHA:1307
Intellectual Developmental Disorder, X-Linked 30
Deeply set eye, High palate, Upslanted palpebral fissure, Drooling, Open mouth, Thick upper lip v... OMIM:300558
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Joint laxity, Vertebral wedging, Increased susceptibi... OMIM:610968
Goldberg-Shprintzen Syndrome
Corneal ulceration, Short philtrum, Clinodactyly, Short neck, Thick eyebrow, Everted lower lip ve... OMIM:609460
Acrocephalopolydactyly
Brachydactyly, Short neck, Short long bone, Epicanthus, Hypertelorism, Abnormality of the mouth ORPHA:221054
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Short palm, Carious teeth, Short stature, Spina bifida occulta OMIM:101805
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Postaxial poly... OMIM:619142
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Kyphosis, Microdontia, Osteoporosis, Supernumerary tooth, Joint hypermobility, Scolio... OMIM:619718
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High palate, Kyphosis, Joint laxity, High, narrow palate, Arachnodactyly, Mandibular prognathia OMIM:248760
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Hypertelorism, Malar flattening OMIM:122880
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Micrognathia, Hamartoma of tongue, Abnormality of the temporomandibula... ORPHA:137888
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Upslanted palpebral fissure, Clinodactyly, Long philtrum, Widely spaced teeth, Tented upper lip v... ORPHA:487796
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Deeply set eye, Kyphosis, Absent pubertal growth spurt, Short stature, Scoliosis, Hypertelorism, ... ORPHA:464282
Greenberg Dysplasia