Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
osteopetrosis associated transmembrane protein 1
Synonyms:
gl,  1200002H13Rik,  HSPC019

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 Ostm1 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 Ostm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteo... OMIM:259720
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179

The table below shows human diseases predicted to be associated to Ostm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Book Syndrome
Premature graying of hair, Hypodontia OMIM:112300
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Increased bone mineral density, Microdontia, Widely spaced... OMIM:190320
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tricho-Dento-Osseous Syndrome
Abnormality of the nail, Dental enamel pits, Taurodontia, Abnormal hair quantity, Periapical toot... ORPHA:3352
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Anteverted nares, Epicanthus, Abnormality of the dentition, Synophrys... ORPHA:217340
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Narrow chest, Short distal phalanx of finger... ORPHA:1515
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Flat acetabular roof, Delayed tarsal ossification, Long thumb, Dela... OMIM:600002
Hyperostosis Corticalis Generalisata
Abnormal clavicle morphology, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortica... ORPHA:3416
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia, Anteverted nares OMIM:166750
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscler... OMIM:607634
Tooth Agenesis, Selective, 9
Selective tooth agenesis OMIM:617275
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Recurrent fractu... OMIM:259710
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Pyle Disease
Delayed eruption of teeth, Carious teeth, Genu valgum, Limited elbow extension, Mandibular progna... OMIM:265900
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Ataxia... ORPHA:2026
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Abnormality of the dentition, Thick ... ORPHA:2222
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure t... ORPHA:2645
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mine... OMIM:259700
Mcdonough Syndrome
Open bite, Short philtrum, Underdeveloped nasal alae, Mandibular prognathia, Abnormal palate morp... ORPHA:2471
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Omphalocele, Sandal gap, Short distal pha... OMIM:311300
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... OMIM:265800
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Multiple Epiphyseal Dysplasia With Robin Phenotype
Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,... OMIM:601560
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Poliosis, Ataxia, Patchy alopecia, ... OMIM:141300
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Wide nasal bridge, Telecanthus, Depressed nasal bridge ORPHA:1522
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Ataxia, Increased bone m... OMIM:136300
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Prominent nas... ORPHA:71267
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Sparse facial hair, Slender lon... OMIM:608154
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Os... OMIM:166600
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Liang-Wang Syndrome
Macroglossia, Dystonia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide ... OMIM:618729
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Reticular hyperpigmentation, Wide nasal bridge, Hypo... OMIM:262020
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Mental Retardation, X-Linked 91
Short nose, Epicanthus, High palate, Low posterior hairline, Macrodontia, Obesity OMIM:300577
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Abnormal palat... ORPHA:2097
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, High, narrow palate, Osteopetrosis, High iliac wing,... ORPHA:2780
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Joint laxity, Wide anterior fontanel, Recurrent mandibular subluxations, Gingi... OMIM:225410
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Gait disturbance, Camptodactyly, Epi... OMIM:618761
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Trichodental Dysplasia
Sparse hair, Odontodysplasia, Slow-growing hair, Hypodontia, Brittle hair, Conical tooth, Fine hair OMIM:601453
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Broad nasal tip, Open mouth, Broad philtrum, Congenital fi... ORPHA:166108
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp, Amelogenesis imperfecta ORPHA:79129
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Lar... OMIM:616202
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Midline notch of upper alveolar ridge,... OMIM:129540
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Downturned corners of mouth, Gait disturbance, Metacarpal os... ORPHA:2774
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Thick hair, Mandibular prognathia, Everted lower lip vermilion, Gait ... ORPHA:2429
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Clark-Baraitser syndrome
Joint laxity, Maxillary lateral incisor microdontia, Broad nasal tip, Downslanted palpebral fissu... OMIM:300602
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Renpenning Syndrome
Short philtrum, Narrow mouth, Mandibular prognathia, Upslanted palpebral fissure, Epicanthus, Abn... ORPHA:3242
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Metatropic Dysplasia
Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abnormal enchon... ORPHA:2635
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot... ORPHA:1988
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatum, Abnormal... ORPHA:3268
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Epicanthus, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchiti... OMIM:614069
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Lower limb asymmetry, Abnormality of the knee, Narrow palate, Abnormal palate morp... ORPHA:2063
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Mu... OMIM:113300
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Epicanthus, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Tooth Agenesis, Selective, 8
Microdontia, Sparse eyebrow, Sparse hair, Selective tooth agenesis OMIM:617073
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Trisomy 9P
Hypoplastic toenails, Impacted tooth, Downturned corners of mouth, Dental crowding, Non-midline c... ORPHA:236
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Narrow mouth, Short nose, Depressed nasal ridge, Generalized hyperpigme... ORPHA:1355
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Smooth philtrum, Hypodontia, Red... OMIM:619322
Atkin-Flaitz Syndrome
Joint laxity, Maxillary lateral incisor microdontia, Broad nasal tip, Downslanted palpebral fissu... OMIM:300431
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:10
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Blepharophimosis, Epicanthus ORPHA:2871
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, High palate, Mic... OMIM:613849
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Gait ataxia, Short nose, Dental crowding, Congenital ptosis, Slanting of the palpe... ORPHA:476126
Melorheostosis With Osteopoikilosis
Multiple lipomas, Complete duplication of the distal phalanges of the hand, Abnormal cortical bon... ORPHA:1879
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteo... OMIM:259720
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
14Q11.2 Microdeletion Syndrome
Long philtrum, Highly arched eyebrow, Narrow mouth, Short nose, Blepharophimosis, High palate, Ev... ORPHA:261120
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Iris hypopigmentation, Freckling, Hypopigmentation of ... ORPHA:3214
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Thin vermilion border, Short middle phalanx of the 2nd finger, Short 5th metacarp... OMIM:156510
Melnick-Needles Syndrome
Delayed eruption of teeth, Abnormality of the ribs, Short thorax, Tooth malposition, Narrow chest... ORPHA:2484
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Gapo Syndrome
Joint hypermobility, Sparse eyebrow, Wide anterior fontanel, Thick lower lip vermilion, Sparse ey... OMIM:230740
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Christianson Syndrome
Dystonia, Arthrogryposis multiplex congenita, Gait ataxia, Truncal ataxia, Joint hyperflexibility... ORPHA:85278
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Low posterior hairline... OMIM:263540
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Pes planus, Leukonychia, Ivory epiphyses of the d... OMIM:190350
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypodontia, ... ORPHA:1816
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, High palate, Curly hair, Osteopenia, Obtuse angle of mandible, Increased bone mineral... ORPHA:85184
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Spinocerebellar Ataxia, Autosomal Recessive 20
Inability to walk, Long philtrum, Macroglossia, Delayed eruption of teeth, Wide nasal base, Denta... OMIM:616354
Chung-Jansen Syndrome
Long philtrum, Short philtrum, Thin vermilion border, Joint hypermobility, Short nose, Upslanted ... OMIM:617991
Temple-Baraitser Syndrome
Open mouth, High palate, Aplastic/hypoplastic toenail, Wide nose, Depressed nasal bridge, Long ph... ORPHA:420561
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate OMIM:600252
Ck Syndrome
Slender build, Joint hypermobility, Dental crowding, Abnormal cortical bone morphology, Abnormal ... OMIM:300831
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Upslanted palpebral fissure, Thick vermilion border, Synophrys, Hypo... OMIM:617061
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Convex nasal ridge, Narrow mouth, Premature graying of hair, Ab... ORPHA:1979
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Convex nasal ridge, Carious teeth, Ridged nail, Alopecia OMIM:614564
Flynn-Aird Syndrome
Carious teeth, Bone cyst, Ataxia, Joint stiffness, Cachexia, Alopecia ORPHA:2047
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, High, narr... ORPHA:3238
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Joint laxity, Broad nasal tip, Short nose, Downslanted... OMIM:615873
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat acetabular ro... OMIM:184260
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia, Increased groin pigmentation with raindrop d... OMIM:188150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Short philtrum, Bulbous nose, Open mouth, Epicanthus, Smooth philtrum, Failure... OMIM:616801
Osteogenesis Imperfecta, Type V
Joint hypermobility, Recurrent fractures, Abnormality of the dentition, Hyperextensibility at elb... OMIM:610967
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ossificatio... OMIM:618363
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Thoracic hypoplasia, Beaded ribs, Flexion contracture, Limb undergrowth, Decreased f... OMIM:616897
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Shallow orbits, Micrognathia, Osteopetrosis OMIM:617306
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Abnormality of the philt... ORPHA:2863
Teebi Hypertelorism Syndrome
Long philtrum, Highly arched eyebrow, Craniosynostosis, Short nose, Dental crowding, Upslanted pa... OMIM:145420
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Alopecia, Telecanthu... OMIM:203550
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the metacarpal bones, In... ORPHA:2658
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of retinal pigmentation, Sparse hair, Abnormality of the dentition, Supe... ORPHA:1264
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Taurodontism
Taurodontia OMIM:272700
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Epic... OMIM:234250
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Hirsutism, Wide mouth, Long eyelashes, Sparse scalp hair, Thick eyebro... OMIM:614608
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Torticollis, Cleft palate, Abnormality of the ma... OMIM:217150
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormal... ORPHA:3220
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, High anterior hairline, Bilateral cleft lip, Palate ... OMIM:616788
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypocalcemia, Rachitic rosary, Increased susceptibility to fractures, Thin bon... ORPHA:289157
Lethal Recessive Chondrodysplasia
Macroglossia, Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth... ORPHA:1423
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Abnormal bone ossification, Taurodontia, Long foot, Sho... ORPHA:2563
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Everted lower lip verm... ORPHA:181
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse ... OMIM:600081
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hi... OMIM:605282
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... ORPHA:440354
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Slow-growing hair, Vertebral hyperos... OMIM:164200
Mental Retardation With Language Impairment And With Or Without Autistic Features
Drooling, Open mouth, Short nose, Failure to thrive in infancy, Broad nasal tip, Downslanted palp... OMIM:613670
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Deviated nasal septu... ORPHA:139474
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Blepharophimosis, Joint hyperflexibility, Everted lower lip vermi... ORPHA:1695
Craniodigital-Intellectual Disability Syndrome
Short nose, Thick hair, Long eyelashes, Thick eyebrow, Spina bifida occulta, Generalized hirsutis... ORPHA:1514
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars... OMIM:612350
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Joint hyperflexibility, Dentinogenesis imperfecta, Retrogn... ORPHA:166272
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus ad... ORPHA:56304
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Hirsutism, Epicanthu... OMIM:246550
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Coffin-Siris Syndrome 10
Epicanthus, Wide mouth, Persistence of primary teeth, Laryngomalacia, Anteverted nares OMIM:618506
Bainbridge-Ropers Syndrome
Inability to walk, Highly arched eyebrow, Short nose, Dental crowding, Everted lower lip vermilio... OMIM:615485
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Joint hypermobility, Craniosynostosis, Eczematoid dermatitis, Recurrent fractures, Per... OMIM:147060
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Short nose, Microretrognathia, Abnormal palate morphology, Cachexia, Recurrent res... ORPHA:1389
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Epicanthus, Smooth philtrum, Hyperconvex n... OMIM:157980
Dysosteosclerosis
Oligodontia, Narrow chest, Natal tooth, Increased susceptibility to fractures, High palate, Micro... OMIM:224300
Lowry-Maclean Syndrome
Osteoporosis, Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis... ORPHA:2409
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Smith-Magenis Syndrome
Open mouth, Mandibular prognathia, Failure to thrive in infancy, Abnormal tracheobronchial morpho... ORPHA:819
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positional foot de... ORPHA:566943
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Delayed eruption of teeth, Craniosynostosis, Abnormality of hair ... ORPHA:667
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Underdeveloped nasal alae, Upslanted palpebral fissure, Incisor macrodontia, Abnormalit... ORPHA:438216
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypoplasia of teeth, Reticular ... ORPHA:2909
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Albers-Schönberg Osteopetrosis
Hypocalcemia, Carious teeth, Genu valgum, Osteomyelitis, Abnormality of epiphysis morphology, Rec... ORPHA:53
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Generalized osteosclerosis, Short ribs, Flared... OMIM:215045
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... ORPHA:1801
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Broad ribs, Dental crowding, Mandibular prognathia, Natal tooth, Broa... OMIM:269300
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Epicanthus, Thick vermilion bo... OMIM:618186
Cohen Syndrome
Genu valgum, Short philtrum, Joint hypermobility, Short metatarsal, Bone spicule pigmentation of ... OMIM:216550
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Low anterior hairline, Abnormality of the mouth, Low pos... ORPHA:73272
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Acne, Osteolysis, Camptodactyly of finger, Mandibular ... ORPHA:137834
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Decreased calvarial ossification, Natal ... ORPHA:313855
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Highly arched eyebrow, Narrow mouth, Downturned corners of mo... ORPHA:1327
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Dental malocclusion, H... OMIM:259730
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Joint laxity, Short nose... OMIM:249620
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Long philtrum, Highly arched eyebrow, Short nose, Smooth philtrum, Thin upper ... ORPHA:438178
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Choanal stenosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofac... OMIM:122860
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Short nose, Open mouth, Dental crowding, Mandibular prognathia, Upslanted pa... OMIM:300143
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Gorham-Stout Disease
Mandibular pain, Osteolysis, Abnormality of finger, Abnormal bone ossification, Patchy reduction ... ORPHA:73
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow chest, Mandibular prognathia,... ORPHA:1452
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Abnormality of the nail, Everted lower lip v... ORPHA:181393
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... OMIM:612463
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Sparse hair, Lipoatrophy, Slender long bone, Os... OMIM:601812
Edinburgh Malformation Syndrome
Thin vermilion border, Brushfield spots, Low posterior hairline, Narrow mouth, Downturned corners... ORPHA:1895
Desmosterolosis
Anomalous pulmonary venous return, Narrow mouth, Short nose, Abnormality of the nose, Epicanthus,... ORPHA:35107
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Narrow palate, Hirsutism, Long eyelashes, Retrognathia, Increa... OMIM:613684
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin bony cortex, Prema... OMIM:174810
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Slow-growing hair, Hyper... ORPHA:2710
Pycnodysostosis
Narrow palate, Narrow chest, Ridged nail, Short distal phalanx of finger, Abnormal pelvis bone os... ORPHA:763
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodac... OMIM:170390
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Abnormality of the nail, Hypoplastic sweat glands, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Hypopl... ORPHA:1028
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Nasal congestion, Mandibular prognathia, Wide nasal bridge, Patc... OMIM:218400
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Epicanthus, Long eyelash... OMIM:615502
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Abnormality of ... OMIM:617952
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Downturned corners of mouth, Open mouth, Recurrent upper r... ORPHA:391372
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Multinucleated giant chondrocytes in epiphyseal cartilage, Microg... OMIM:108720
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Increased circulating cortisol level, Abnormality of facial skel... ORPHA:249
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Inguinal he... ORPHA:2958
Frontometaphyseal Dysplasia 1
Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High pal... OMIM:305620
Aarskog-Scott Syndrome
Pes planus, Oral cleft, Broad foot, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Jo... ORPHA:915
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scal... OMIM:613573
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Increased bone mineral density ORPHA:178377
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Downturned corners of mouth, Open mouth, Everted lower lip vermilion, Unsteady gait, ... OMIM:617865
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Baker-Gordon Syndrome
Inability to walk, Dystonia, Joint laxity, Short nose, Epicanthus, Smooth philtrum, Ataxia, Promi... OMIM:618218
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... OMIM:259440
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Carious teeth, Sparse hair, Ataxia, Failure to thrive, Alopecia... OMIM:616353
Ring Chromosome 8 Syndrome
Short nose, Abnormal palate morphology, Epicanthus, Low posterior hairline, Anteverted nares ORPHA:1450
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... OMIM:609052
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Downturned corners of mout... ORPHA:93267
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Abnormality of the ribs, Abnormal clavicle morphology, Hy... ORPHA:628
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96263
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Truncal obesity, Hypoplastic nasal bridge, Microdontia... ORPHA:633
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Short 1st metacarpal, Natal tooth, Short distal phalanx of toe, Thick verm... OMIM:601957
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Osteopenia, Upslanted palpebral fissure, Recurrent fractures ORPHA:91133
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Hypoplastic toenail... ORPHA:2325
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Long philtrum, Highly arched eyebrow, Underdeveloped nasal alae, Denta... OMIM:618825
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Tarsal synostosis, Pes planus, Limited elbow extension, Abnormality of retinal... OMIM:272460
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Sparse hair, Underdeveloped nasal alae, Wide mouth, Recurrent respiratory ... ORPHA:217346
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Anonychia, Oral mucosal blisters... ORPHA:79405
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Absent eyebrow, Eczema, Depressed nasal bridge, Hypoplasia of the maxi... OMIM:305100
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Ataxia, Hypodontia OMIM:615905
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Upslanted palpebral fissure, Narrow palpe... OMIM:617752
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Narrow chest, Rhizomelia,... ORPHA:1190
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96264
Rothmund-Thomson Syndrome Type 2
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synostosis involving b... ORPHA:221016
Steatocystoma Multiplex With Natal Teeth
Natal tooth, Abnormality of the nail OMIM:184510
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Hepatitis, Sparse lateral eyebrow, Broa... ORPHA:363523
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Small nail, Hypoplastic toenails, Abnormality of... ORPHA:952
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Sparse eyebrow, Joint laxity, Underdeveloped nasal alae, Narrow palpebral fiss... OMIM:619293
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse ... OMIM:241530
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Epicanthus, Joint laxity, Red hair OMIM:229200
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Hyperostosis, Increased susceptibility to fractures, Dent... OMIM:604922
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Lacrimal duct atresia, Narrow mouth, Short nose, Blepharophimosis, Hypop... ORPHA:1529
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Short nose, Underdeveloped nasal alae, White eyebrow, Premature graying... ORPHA:894
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Wide nasal bridge, Shovel-shaped maxillary central incisors, Long pa... OMIM:600906
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Low posterior hairline, Short nose, Hypoplastic toenails, D... ORPHA:2701
Jaberi-Elahi Syndrome
Inability to walk, Joint hypermobility, Dystonia, Gait ataxia, Sparse eyebrow, Short nose, Sparse... OMIM:617988
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Carious teeth, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Thi... ORPHA:93324
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Long philtrum, Thin vermilion border, Carious teeth, Delayed er... ORPHA:50814
Rothmund-Thomson Syndrome Type 1
Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutropenia, Alopecia ... ORPHA:221008
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Seckel Syndrome
Convex nasal ridge, Abnormal dental enamel morphology, Craniosynostosis, Joint hyperflexibility, ... ORPHA:808
X-Linked Intellectual Disability, Cabezas Type
Open bite, Camptodactyly of finger, Short philtrum, Blepharophimosis, Joint hyperflexibility, Epi... ORPHA:85293
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Epicanthus, Wide nasal ... OMIM:600991
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Al-Raqad Syndrome
Inability to walk, Joint laxity, Narrow mouth, Short nose, Thin upper lip vermilion, Unsteady gai... OMIM:616459
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Short nose, Hypoplasia of teeth, Sparse hair, Woolly hair, Epicanthus, Nail dysplasia... OMIM:234050
Mental Retardation, Buenos Aires Type
Curly eyelashes, Carious teeth, Mandibular prognathia, Wide mouth, Long eyelashes, Wide nasal bri... OMIM:249630
Singleton-Merten Syndrome 1
Carious teeth, Hip subluxation, Expanded metatarsals with widened medullary cavities, Expanded ph... OMIM:182250
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Narrow mouth, Dental crowding, Absent eyebrow, Wei... ORPHA:740
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Anonychia, Oral mucosal blisters, Nail dystrophy ORPHA:79406
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Anonychia, Short middle phalanx of finger, Aplasia/Hypoplasia of... OMIM:113000
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... ORPHA:1832
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Pierpont Syndrome
Thin vermilion border, Short nose, Blepharophimosis, Unilateral narrow palpebral fissure, Everted... OMIM:602342
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Frontal upsweep ... OMIM:311450
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Osteopenia, Short nose, Wide nose OMIM:125700
Oculotrichodysplasia
Trichodysplasia, Carious teeth, Generalized hypotrichosis, Agenesis of permanent teeth, Sparse ax... OMIM:257960
Pitt-Hopkins Syndrome
Prominent nasal bridge, Esophagitis, Short philtrum, Failure of eruption of permanent teeth, Toot... ORPHA:2896
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Carious teeth, Scarring alopecia of scalp, Nail dysplasia, Conju... OMIM:612843
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Short nose, Long eyelashes, Micrognathia, Depressed nasal bridge OMIM:617802
Dysostosis, Stanescu Type
Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morphology, Macrogl... ORPHA:1798
Cherubism
Oligodontia, Lower eyelid retraction, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Mul... OMIM:118400
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Delayed eruption of teeth, Craniosynostosis, Abnormal hair morphology, Joint hyperflex... ORPHA:2314
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Narrow chest, Omphalocele, Sandal gap, Abnormal pe... OMIM:215140
Ring Chromosome 10 Syndrome
Long philtrum, Thin vermilion border, Wide nasal bridge, Cachexia, Downslanted palpebral fissures... ORPHA:1438
Xfe Progeroid Syndrome
Enamel hypoplasia, Convex nasal ridge, Cachexia OMIM:610965
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemi... ORPHA:289176
Fryns-Smeets-Thiry Syndrome
Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Joint hyperflexibility, E... ORPHA:2058
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Abnormality of the ribs, Upper limb undergrowth, Short metatarsal, Hyp... ORPHA:93351
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Small nail, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequenc... ORPHA:364577
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dystonia, Short nose, Sparse hair, Mandibular prognathia, Narrow palpebral fis... OMIM:618087
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Osteolysis, Dental crowding... OMIM:614008
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Sparse eyelashes, Dental crowding, Everted lower lip vermilion... OMIM:616367
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Carious teeth, Thin clavicles, Slender long bone, Thin ribs, Small hand, Decreased ... OMIM:244460
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Oligodontia, Hypoplasia of teeth, Narrow mouth, Downturned corners of mouth, Joint laxity, Small ... ORPHA:391408
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Scarring alopecia of scalp, S... ORPHA:251393
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Hypodontia, Nail dysplasia, Oral mucosal blisters, Nail d... OMIM:226650
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Oral ... ORPHA:79402
Achondrogenesis Type 1B
Long philtrum, Short thorax, Abnormal enchondral ossification, Narrow chest, Femoral hernia, Umbi... ORPHA:93298
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Epicanthus, W... OMIM:601224
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Furrowed tongue, Cachexia, Dystrophic fin... ORPHA:2930
Schimke Immuno-Osseous Dysplasia
Hypoplastic pelvis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion o... ORPHA:1830
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Acromicric Dysplasia
Long philtrum, Abnormal eyebrow morphology, Narrow mouth, Bulbous nose, Short nose, Long eyelashe... ORPHA:969
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Mandibular prognathia, Short columella, Abnormality... ORPHA:1248
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Genu valgum, Long philtrum, Sparse eyebrow, Highly arched eyebrow, Rhi... ORPHA:263463
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
X-Linked Non-Syndromic Intellectual Disability
Long philtrum, Delayed eruption of teeth, Drooling, Thin upper lip vermilion, Obesity, Long palpe... ORPHA:777
Proteus Syndrome
Open mouth, Splenomegaly, Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Hypertroph... OMIM:176920
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Pectus carinatum, Mandibular prognathia, Long foot, Pectus excavatum, High palate, ... OMIM:300676
X-Linked Creatine Transporter Deficiency
Dystonia, Open mouth, Joint hyperflexibility, Ataxia, Ptosis, Cachexia, Hyperactivity, Athetosis,... ORPHA:52503
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Mental Retardation, Autosomal Dominant 20
Inability to walk, Short philtrum, Short nose, Downturned corners of mouth, Upslanted palpebral f... OMIM:613443
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Radioulnar synostosis, Recurrent upper respiratory tract infect... ORPHA:99329
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Split hand, Pes planus, Hirsutism, Interphalangeal joint contracture of fi... OMIM:259600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Conjunctival whitish salt-like deposits, Pulp calcification, Taurodontia, Subp... OMIM:211900
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short philtrum, Enlarged naris, Anteverted nares, Smooth philtrum, Tented upper lip vermilion, Wi... ORPHA:371364
Cerebellar-Facial-Dental Syndrome
Long philtrum, Sparse eyebrow, Sparse hair, Taurodontia, Macrodontia of permanent maxillary centr... ORPHA:444072
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Hypoplastic sweat glands, Localized hypoplasia of dental en... ORPHA:73223
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Narrow mouth, Camptodactyly, High palate, Frontal upsweep of hair, Depressed na... OMIM:608156
Pachyonychia Congenita 2
Folliculitis, Dry hair, Natal tooth, Nail dysplasia, Sparse scalp hair, Subungual hyperkeratosis,... OMIM:167210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Hypocalcemia, Osteopetrosis OMIM:618476
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Elevated plasma pyrophosphate, Premature loss of primary teeth, ... OMIM:241510
3M Syndrome
Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Horizontal ribs, ... ORPHA:2616
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Ridged nail, Nail dysplasia, Cleft pa... OMIM:246560
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Barber-Say Syndrome
Delayed eruption of teeth, Bulbous nose, Ectropion, Wide mouth, Breast aplasia, Wide nasal bridge... ORPHA:1231
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Increased body weight, Increased body mass index, Broad-... OMIM:614450
Char Syndrome
Short philtrum, Supernumerary nipple, Everted lower lip vermilion, Thick vermilion border, Persis... ORPHA:46627
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Narrow chest, Bowing of the long bones, Recurrent frac... ORPHA:436
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Anteverted nares, Downslanted ... OMIM:211380
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Drooling, Mandibular prognathia, Wide mouth, Ata... ORPHA:411515
Chromosome 19Q13.11 Deletion Syndrome, Distal
Thin vermilion border, Carious teeth, Short philtrum, Short nose, Underdeveloped nasal alae, Spar... OMIM:613026
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Congenital Muscular Dystrophy Due To Lmna Mutation
Joint hyperflexibility, Gait disturbance, Flexion contracture, Cachexia, Limitation of joint mobi... ORPHA:157973
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Red hair, Mandibular prognathia, Fair hair, Obesity, Hyperactivity,... OMIM:614613
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Ataxia, Generalized dystonia, Eczema, Fine hair OMIM:272300
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Blepharophimosis, Narrow palpebral fissure, Epicanthus, Joint stiffness OMIM:261560
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short nose, Abnormality of dental morphology, Choanal atr... ORPHA:1716
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Hirsutism, Erysipelas, Spina bifida occu... OMIM:235510
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Short palpe... ORPHA:1200
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Natal tooth, Ptosis, Cleft palate, Downslanted palpebral fissur... OMIM:201050
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Sparse hair, Flared iliac win... OMIM:183849
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Short humerus, S... OMIM:607143
Ellis Van Creveld Syndrome
Thin vermilion border, Narrow chest, Short distal phalanx of finger, Acute leukemia, Genu valgum,... ORPHA:289
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, Distichiasis, High palate, Micrognathia ORPHA:2598
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Cleidocranial Dysplasia
Enamel hypoplasia, Narrow palate, Narrow chest, Hypoplastic frontal sinuses, Increased bone miner... OMIM:119600
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, Narrow foot, High, narro... OMIM:600920
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Decreased calvarial ossification, Recurrent fractures, Severe generalized... OMIM:259420
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Hypoc... OMIM:103580
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Aplasia/Hypoplasia of ... ORPHA:3082
Mucopolysaccharidosis Type 4
Genu valgum, Carious teeth, Abnormal dental enamel morphology, Abnormality of the ribs, Short tho... ORPHA:582
Bartsocas-Papas Syndrome
Hypoplastic toenails, Narrow mouth, Underdeveloped nasal alae, Synostosis of joints, Short nose, ... ORPHA:1234
Kabuki Syndrome 2
Highly arched eyebrow, Depressed nasal tip, Joint laxity, Broad nasal tip, Recurrent otitis media... OMIM:300867
Immunodeficiency 49
Short philtrum, Upslanted palpebral fissure, Natal tooth, Hirsutism, Short palpebral fissure, Pul... OMIM:617237
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Open mouth, Short nose, Camptodactyly, Narrow palpebral fissure, Epicanthus, Thin u... OMIM:613604
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Thin vermilion border, Long philtrum, Joint hypermobility, ... OMIM:614856
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Joint hypermobility, Narrow mouth, Wide anterior fontanel, Antevert... OMIM:219200
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Aplastic/hypoplastic toenail, Hypoplasia of the... ORPHA:1775
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Nail dysplasia, Failure to thrive, Nail dystrophy OMIM:226700
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Difficulty... ORPHA:90322
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Mottled pigmentation, Abnormal cortical... ORPHA:1525
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal... ORPHA:2889
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Supernumerary tooth, Pili canaliculi, Microdontia, Uncombable hair OMIM:191482
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Blepharophimosis, Epicanthus, Anodonti... OMIM:264475
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Achondrogenesis Type 1A
Long philtrum, Short thorax, Abnormal enchondral ossification, Narrow chest, Femoral hernia, Recu... ORPHA:93299
Diencephalic Syndrome
Everted lower lip vermilion, Cachexia, Decreased body weight ORPHA:1672
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Microretrognathia, Dentinogenesis imperfecta, Coronal craniosynostos... OMIM:616294
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Hypocalcemic tetany... OMIM:612462
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of retinal pigmentation, Heterochromia iridis, Joint hyperflexibility,... ORPHA:1390
Odontomicronychial Dysplasia
Abnormality of the nail, Abnormality of the dentition, Premature loss of primary teeth, Thin nail... ORPHA:1811
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Epicanthus, Smooth philtrum, Ptosis, Micrognathia, Antev... OMIM:614744
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Congenit... OMIM:137550
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Genu valgum, Postaxial hand polydactyly, Talipes equinovarus, Narrow c... OMIM:225500
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Epic... ORPHA:1906
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Sparse hair, Melanocytic nevus, Anodontia, Nail dysplasia, Supernumerary nippl... OMIM:275450
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormality of dental morphology, Absent eyeb... ORPHA:1897
Moynahan Syndrome
Sparse hair, Cachexia, Alopecia ORPHA:2574
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Convex nasal ridge, Carious teeth, Low posterior hairline, Premature graying of hair, ... ORPHA:2617
Peho-Like Syndrome
Retrognathia, Epicanthus, Short nose, Open mouth OMIM:617507
W Syndrome
Agenesis of maxillary central incisor, Abnormality of the scalp hair, Upper lip pit, Broad uvula,... ORPHA:2804
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Short nose, Microretrognathia, Narrow palpebral fissure, Epicanthus, Wide nasal b... OMIM:613603
Chromosome 16P13.3 Duplication Syndrome
Short nose, Bulbous nose, Upslanted palpebral fissure, Camptodactyly, Ptosis, Malar flattening OMIM:613458
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Hypoplasia of teeth, Premature graying of hair, Mandibular prognathia, Narrow pal... OMIM:268400
Fetal Alcohol Syndrome
Short nose, Epicanthus, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Ptosis,... ORPHA:1915
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Upslanted palpebral fissure, Abnormality of the denti... OMIM:616331
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Joint stiffness, Cachexia ORPHA:1216
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Short phalanx of finger, Narrow mouth, Dental crowding, Short clavicles, Hig... OMIM:608612
Achondrogenesis
Long philtrum, Short nose, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Abn... ORPHA:932
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, 2-3 toe... OMIM:618156
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse hair, Short eyelashes, Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Camptodactyly,... OMIM:136760
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Atypical scarrin... ORPHA:1306
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Low posterior hairline, Congenital hip dislocation, Hypopla... ORPHA:93333
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Short finger, High, narrow palate, Pec... ORPHA:2980
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Craniosynostosis, Downturned corners of mouth, Mandibular p... ORPHA:1299
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Heterochromia iridis, Blepharophimosis, Premature graying of hair, Mandi... OMIM:148820
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Radioulnar synostosis, ... ORPHA:2712
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Abnormal dental enamel morphology, Ankyloblepharon, Coarse hair, Generalized hyperpigmentation, M... ORPHA:1071
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral neck, Peg-like ... OMIM:300232
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Punctate keratitis, Nail dysplasia,... OMIM:226670
Three M Syndrome 2
Prominent calcaneus, Delayed eruption of teeth, Short 5th finger, Long philtrum, Short thorax, Sc... OMIM:612921
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Short nose, Recurrent upper respiratory tract infections, Deep philtrum, Epicanthus, ... OMIM:300209
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Idiopathic Bronchiectasis
Respiratory tract infection, Halitosis, Bronchiectasis, Emphysema, Acute infectious pneumonia, Ca... ORPHA:60033
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Omphalocele, Tibial bowing, Abn... ORPHA:3035
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Short philtrum, Craniosynostosis, Broad thumb, Flared iliac win... ORPHA:949
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Curly hair, Agenesis of maxillary incisor, Nail... ORPHA:1401
Perlman Syndrome
Short nose, Open mouth, Epicanthus, Smooth philtrum, Wide nasal bridge, Ptosis, Retrognathia, Bro... ORPHA:2849
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Mandibular prognathia, C... ORPHA:397973
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Short philtrum, Narrow palate, Joint laxity, Open mouth, Mandibular prognathia, Th... ORPHA:364028
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Camptodactyly, Abnormality of the dentition, Long eye... OMIM:618529
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, High palate, Clinodactyly, Patchy alopecia, Multiple cafe-au-lait spots,... ORPHA:85279
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Premature loss o... ORPHA:248
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Downturned corners of mouth, Natal tooth, Broad eyebrow, Long toe, Micrognathia, Sh... OMIM:264090
Blomstrand Lethal Chondrodysplasia
Long philtrum, Short thorax, Narrow chest, Abnormality of epiphysis morphology, Synostosis of joi... ORPHA:50945
Dyggve-Melchior-Clausen Disease
Short metatarsal, Shield chest, Carpal bone hypoplasia, Mandibular prognathia, Camptodactyly, Pes... OMIM:223800
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Nail pits, Choanal atresia, Coarse hair, Slow-g... ORPHA:1896
Marshall Syndrome
Radial bowing, Long philtrum, Absent frontal sinuses, Thick lower lip vermilion, Ulnar bowing, Wi... OMIM:154780
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Diastema, Postaxial polydactyly, Limb undergrowth, Long thorax, Nail... OMIM:619142
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Nail dystrophy, Anonychia, Hypodontia OMIM:616029
Spinocerebellar Ataxia With Dysmorphism
Short nose, Downturned corners of mouth, Coarse hair, Ataxia, Ptosis, Thick lower lip vermilion, ... OMIM:271270
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral head, Limite... ORPHA:93284
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia, Broad metatarsal, ... ORPHA:1540
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Coffin-Lowry Syndrome
Narrow palate, Open mouth, Pes planus, Short distal phalanx of finger, High palate, Hypoplasia of... ORPHA:192
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Anauxetic Dysplasia 2
Macroglossia, Hypoplasia of the femoral head, Small nail, Sparse hair, Shield chest, Flexion cont... OMIM:617396
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joint laxity, Pes p... ORPHA:439822
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Dentinogenesis imperfecta, Retrognathia, Oste... OMIM:619269
Oculocerebrorenal Syndrome Of Lowe
Open bite, Hypercholesterolemia, Carious teeth, Abnormal dental enamel morphology, Narrow palate,... ORPHA:534
Hallermann-Streiff Syndrome
Joint hypermobility, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasal ala... OMIM:234100
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Abnormal palate morphology, Recurrent pneumoni... ORPHA:1495
Hypophosphatemic Rickets, X-Linked Recessive