Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
matrix metallopeptidase 14 (membrane-inserted)
Synonyms:
sabe,  MT1-MMP,  Membrane type 1-MMP

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 Mmp14 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 Mmp14 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Mmp14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ... OMIM:300636
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Abnormally large globe, Bulbous nose, Obesity, Microcephaly, Macrocephaly, Sho... OMIM:611936
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Steatocystoma Multiplex
Natal tooth OMIM:184500
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Mueller-Weiss Syndrome
Joint subluxation, Tibiofibular diastasis, Tibial torsion, Difficulty walking, Abnormality of the... ORPHA:566943
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bones,... ORPHA:2501
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Antalgic gait, Tarsal stippling, Oste... ORPHA:563991
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Optic atrophy, Hearing impairment, Thickened calvaria, Brachycephaly, Macrocephaly, Cr... ORPHA:178377
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... ORPHA:2491
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Isotretinoin Syndrome
Abnormality of the outer ear, Micrognathia, Biparietal narrowing, Microtia ORPHA:2305
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Gait ataxia, Deeply set eye, Unsteady gait, Frontal bossing, Microtia OMIM:618158
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Craniosynostosis 1
Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Sagittal craniosynostosis, Biparietal... OMIM:123100
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Micrognathia, Gingival ov... ORPHA:75392
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl... OMIM:615314
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Taurodontism
Taurodontia OMIM:272700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... OMIM:222600
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Intellectual Disability, Buenos-Aires Type
Abnormal calvaria morphology, Mandibular prognathia, Dental malocclusion, Umbilical hernia, Micro... ORPHA:3079
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Hirsutism, Generalized osteopo... OMIM:277950
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Mi... ORPHA:217340
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Skeletal muscle atr... ORPHA:970
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Rafiq Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Prominent nose, Underdeveloped nasolabial fold, Malar f... OMIM:614202
Macrocephaly, Benign Familial
Dolichocephaly, Biparietal narrowing, Frontal bossing, Macrocephaly OMIM:153470
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Proptosis, Hearing impairment, Hypertelorism ORPHA:35099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Anteverted nares, Gait ataxia, Long fingers, High palate, Unsteady gait, Man... OMIM:618292
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge, Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodac... ORPHA:2774
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Cherubism
Broad jaw, Optic atrophy, Proptosis, Abnormal mandible morphology ORPHA:184
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Ob... OMIM:300602
Tetraploidy
Microcephaly, Hypoplasia of the ear cartilage, Micrognathia, Biparietal narrowing ORPHA:3305
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Hypertelorism, Microtia OMIM:608393
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Kyphosis, Tip-toe gait, Lower limb mus... OMIM:615290
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Biparietal narrowing, Posteriorly rotated ears, Abn... ORPHA:228396
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the... ORPHA:75508
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Finger clinodactyly, Underdeveloped nasal alae, Serrated i... OMIM:272440
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Downslanted palpebral fissures, Inability to walk, Failure to thrive in infancy, Bulb... OMIM:616801
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Microcephaly, Gait disturbance, EEG abnormality... ORPHA:578
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Platyspondyly, Osteopenia, Hyperconvex toenail, Fractures of the long bones... ORPHA:319195
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb-gir... ORPHA:206549
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Natal tooth ORPHA:99811
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Obesity, Cubitus valgus, High palate, Sh... OMIM:300577
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... OMIM:251450
Craniofacial Microsomia 2
Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathia, Microtia OMIM:620444
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Short femoral neck, Short humerus, Talipes equinovarus, Microcephaly, Narrow... OMIM:616716
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Depressed nasal bridge, Abnormal form of the vertebral bodies, Vertebral wedging, ... ORPHA:40
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Abnormality of the outer ear, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Joint hypermobility, Brachydactyly, Ataxia OMIM:619692
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion, Joint hypermobility... OMIM:619451
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Mcdonough Syndrome
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal... ORPHA:2471
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma... ORPHA:99642
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Difficulty walking, Shoulder girdle muscle weakness, Distal lower limb amyo... ORPHA:363454
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Toluene Embryopathy
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Microcephaly, Bipar... ORPHA:1920
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Plagiocephaly, Proptosis, Inability to walk, Protruding ear, Microcephaly, Joint c... OMIM:617481
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Difficulty walking, Sclerotic vertebral endplates, Flattened epiph... OMIM:208230
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Ck Syndrome
Slender build, Prominent nasal bridge, Abnormal cortical bone morphology, Upslanted palpebral fis... OMIM:300831
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, ... ORPHA:1005
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Failure to thrive, Long philtrum, Anteverted nares, Na... OMIM:219200
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Bangstad Syndrome
Abnormally large globe, Small for gestational age, Convex nasal ridge OMIM:210740
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Tip-toe gait, Lower limb muscle weakness, Quadriceps mu... OMIM:620389
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Proptosis, Retrognathia, Micrognathia, Microcephaly, Mandibular aplasia, Posteriorl... ORPHA:1832
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Generalized hirsutism, ... OMIM:255800
Warburg Micro Syndrome 1
Wide nasal bridge, Facial hypertrichosis, Failure to thrive, Hypertrichosis, Overlapping toe, Ext... OMIM:600118
Prieto Syndrome
Radial deviation of finger, Clinodactyly, Prominent nose, Cryptorchidism, Talipes equinovarus, Ep... OMIM:309610
Hypophosphatasia, Childhood
Carious teeth, Proptosis, Craniosynostosis, Dolichocephaly, Frontal bossing, Waddling gait OMIM:241510
C Syndrome
Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r... OMIM:211750
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Limited elbow extension, Thin u... OMIM:619719
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Failure to thrive, Prominent nose, Anteverted nares, Epica... OMIM:234250
Peho Syndrome
Optic atrophy, Malar flattening, Microcephaly, Hypsarrhythmia, Biparietal narrowing, EEG abnormal... ORPHA:2836
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Proptosis, Camptodactyly of finger, Micrognathia, Biparietal narrowing ORPHA:1323
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Dental malocclusion, Wid... ORPHA:61
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Trigonocephaly, Mi... ORPHA:2994
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Microtia, Deeply set eye, Macrocephaly OMIM:612138
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Retrognathia, Short ... OMIM:618853
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Failure to thrive, Tooth agenesis, Redundant skin, Decreased skul... ORPHA:2963
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Bowen-Conradi Syndrome
Abnormal lung lobation ORPHA:1270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Prominent nose, Cryptorchidism, Epicanthus, Ptosis, Patellar subluxation, Bi... ORPHA:2958
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, S... OMIM:602484
Anauxetic Dysplasia 2
Sparse hair, Posterior wedging of vertebral bodies, Small nail, Hypoplasia of the femoral head, O... OMIM:617396
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Short neck, Abnormal bone ossification, Flattened epiphysis, Flat acetabular roof, Sh... ORPHA:163649
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort... ORPHA:210110
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Protruding ear, Microcephaly, Biparietal narr... ORPHA:2518
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Achondroplasia
Flat acetabular roof, Cervical spinal canal stenosis, Obesity, Limited elbow extension, Knee join... ORPHA:15
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Proptosis, Hearing impairment, Flat occiput OMIM:608716
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane... OMIM:614378
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Limitation of joint mobility, Myopathy, Joint hypermobility, Cachexia, G... ORPHA:157973
Rigid Spine Syndrome
Spinal rigidity, Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contrac... ORPHA:97244
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Slender build, Limb muscle weakne... OMIM:256030
Mucolipidosis Type Iii
Acne, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphol... ORPHA:577
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Soft, doughy skin, Recurrent joint dislocation, Hyperextensible skin,... OMIM:130010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Proptosis, Micrognathia, Retinopathy, Microcephaly, Macular atrophy, Optic disc pa... OMIM:616171
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Low-set ears, Inguinal hernia, Deeply set eye, Microcephaly, Biparietal narrowing ORPHA:261190
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Man1B1-Cdg
Wide nasal bridge, Eclabion, Broad-based gait, Prominent nose, Underdeveloped nasolabial fold, Ma... ORPHA:397941
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Weaver Syndrome
Broad thumb, Sandal gap, Finger syndactyly, Camptodactyly of finger, Long philtrum, Retrognathia,... ORPHA:3447
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Scoliosis, Joint dislocation, Genu valgum, Metaphyseal enchondromat... ORPHA:85198
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Scapular... ORPHA:267
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mob... ORPHA:93351
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Radial deviation of the 4th finger, Malar flattening, Joi... OMIM:608545
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Renpenning Syndrome
High, narrow palate, Broad columella, Macrodontia, Joint stiffness, Prominent nose, Narrow mouth,... ORPHA:3242
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Wormian bones, Brachydactyly, Osteoporosis ORPHA:2787
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Radial head subluxation, Patellar dislocation, Short foo... OMIM:614078
Christianson Syndrome
Arthrogryposis multiplex congenita, Abnormality of the nose, Gait ataxia, Joint hypermobility, Ca... ORPHA:85278
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Joint hypermobility, Diaphyseal dysplasi... OMIM:614727
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Ab... OMIM:253250
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Macrocephaly, Thickened helices, Hypertelorism, Micr... ORPHA:261295
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Decreased muscle mass, Epicanthus, Thoracolumbar scoliosis, Patellar subluxation... ORPHA:3041
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Knee dislocation, Small epiphyses, Genu valgum, Obesity, Hip contracture, Kyphoscolios... OMIM:618363
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Abnormality of the dentition, Joint dislocation, Long philtrum, Thick nasal al... ORPHA:502
6Q16 Microdeletion Syndrome
Low-set ears, Broad-based gait, Retrognathia, Micrognathia, Abnormal ear morphology, Macrocephaly... ORPHA:171829
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Delayed eruption of teeth,... OMIM:214150
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... ORPHA:429
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol... ORPHA:1133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
X-Linked Intellectual Disability, Cabezas Type
Small hand, Broad-based gait, Toe syndactyly, Epicanthus, Short neck, Cachexia, Blepharophimosis,... ORPHA:85293
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Proptosis, Malar flatten... ORPHA:93262
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Abnormality of the philtrum, High palate... ORPHA:2863
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Foot joint contracture, Narrow nasal bridge, Micrognathia, ... ORPHA:166108
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... OMIM:167320
Flynn-Aird Syndrome
Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Kyphosc... OMIM:136300
Mosaic Trisomy 14
Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Hypertelorism, Frontal ... ORPHA:1703
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Flynn-Aird Syndrome
Carious teeth, Skin ulcer, Joint stiffness, Cachexia, Ataxia, Bone cyst ORPHA:2047
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Pontocerebellar Hypoplasia, Type 3
Low-set ears, Optic atrophy, Proptosis, Hearing impairment, Brachycephaly, Progressive microcepha... OMIM:608027
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle clonus, Gait distur... OMIM:611225
1Q44 Microdeletion Syndrome
Optic disc hypoplasia, Frontal bossing, Micrognathia, Microcephaly, Hypertelorism, Biparietal nar... ORPHA:238769
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Myopathy, Hyperlordosis, Osteoporosis, Scoliosis ORPHA:408
Atelosteogenesis, Type Ii
Increased intervertebral space, Talipes equinovarus, Short neck, Short greater sciatic notch, Fla... OMIM:256050
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Multiple joint contractures, Myopathy, Gait disturbance, Limb-... ORPHA:352470
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Del... ORPHA:166272
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotated ears, Bipa... ORPHA:1770
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Decreased movem... OMIM:609115
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Genu recurvatum, Shoulder girdle muscle weakness, Lumbar hype... OMIM:610687
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Proptosis, Malar flattening, Sens... OMIM:109120
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l... OMIM:616331
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction ORPHA:2380
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Blepharophimosis-Impaired Intellectual Development Syndrome
Talipes equinovarus, Patent ductus arteriosus, Wide nose, Thin upper lip vermilion, Clinodactyly ... OMIM:619293
Three M Syndrome 1
Short 5th finger, Depressed nasal bridge, Small for gestational age, Joint dislocation, Slender l... OMIM:273750
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Postaxial hand polydactyl... ORPHA:1389
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult... ORPHA:207
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of ... ORPHA:457395
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver... OMIM:609223
Non-Distal Deletion 10Q
Gait disturbance, Biparietal narrowing, Ataxia ORPHA:1581
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Cantu Syndrome
Broad first metatarsal, Epicanthus, Hypoplastic ischiopubic ramus, Short hallux, Short neck, Ovoi... OMIM:239850
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Joint stiffness, Micrognathia, Narrow mouth, Lack of skin elasticity, Cachexia, Weight loss, Conv... ORPHA:1979
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Abn... ORPHA:1515
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Arachnodactyly, Generalized hirsutism, Dislocated radial head, Wide distal... OMIM:614856
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Joint contracture of the 5th finger, Microcephaly, M... OMIM:248910
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Wide nasal bridge, Small hand, Enlarged naris, Elbow flexion contracture, Anteverted nares, Micro... ORPHA:371364
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Congenital diaphragmatic hernia, Microcephaly, B... ORPHA:1915
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Abnormal antihelix morphology, Malar flattening, Turricephaly, Brachycephaly, Hyper... ORPHA:2145
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Osteopenia, Short toe, Soft, doughy skin, Recurrent mandibular subluxations, M... OMIM:225410
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Flat occiput, Micrognathia, Malar flattening, Hypertelorism, Microtia ORPHA:357175
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Patellar dislocation, Short thumb, Sandal gap, Broad hallux, Over... OMIM:618167
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, Broad nasal tip, Failure to thrive, Long philtrum, Ant... ORPHA:357074
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Hallux valgus, Dental malocclusion OMIM:615541
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Broad thumb, Small hand, Micrognathia, Narrow mouth, Talipes equinovarus, Bilat... ORPHA:251028
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Osteopenia, Failure to thrive, Long philtrum, Bulbous nose, Redundant... OMIM:612940
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm ORPHA:93328
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Reduced bone miner... ORPHA:2370
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, H... OMIM:113000
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Micrognathia, Pericallosal lipoma, Microcephaly, Macrocephaly, Hyp... ORPHA:398156
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Failure to thrive, Narrow mouth, Large fontanelles, Hyperextensible s... OMIM:219150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Ollier Disease
Platyspondyly, Precocious puberty, Micromelia, Abnormal cartilage morphology, Joint stiffness, Mu... ORPHA:296
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Finger joint... ORPHA:48431
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Failure to thrive, Underdeveloped nasal alae, Thick upper lip ... OMIM:617883
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Fryns-Smeets-Thiry Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Narrow nasal bridge, Micrognathia, Promin... ORPHA:2058
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Clinodactyly, Small nail, Long hallux, Absent toenail, Long thumb, Absent ... OMIM:618658
Macs Syndrome
Wide nasal bridge, Eclabion, Long philtrum, Recurrent aphthous stomatitis, Micrognathia, Gingival... OMIM:613075
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar... OMIM:118651
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Depressed nasal bridge, Broad hallux, Short thumb, Premature osteoarthritis, ... OMIM:165800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac... ORPHA:1277
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, High palate, Dislocated radial head, Cone-shaped epiphyses of the ... OMIM:210600
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the de... ORPHA:2776
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:601390
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Crumpled long bones, Abnormal lower limb bone morphology, Increased susceptibility to... ORPHA:2788
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Failure to thrive... OMIM:608154
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Micrognathia, Smo... OMIM:610883
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Glandular hypospadias, Penile hypospadias, Myopathy, ... OMIM:300219
Ck Syndrome
Slender build, Lumbar hyperlordosis, Prominent nasal bridge, Upslanted palpebral fissure, Almond-... ORPHA:251383
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Microcephalic Primordial Dwarfism, Montreal Type
Abnormally large globe, Convex nasal ridge OMIM:210700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Underdeveloped nasal alae, Widely spaced teeth OMIM:616108
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Decreased body weight, Bo... OMIM:615349
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Proptosis, Umbilical hernia, Micrognathia, Inguinal hernia, Microcephaly, Brachycep... OMIM:615834
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Flat occiput, Micrognathia, Malar flattening, Hypertelorism, Microtia OMIM:615162
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormal patella morphology, Abnormality of the ankle,... ORPHA:166002
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Open mouth, Thin upper lip vermilion, Wide cranial suture... OMIM:619149
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Depressed nasal bridge, Hypermobility of interphalangeal joints, Delaye... OMIM:613849
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Mandibular prog... OMIM:123500
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Choanal atresia, Widely patent corona... ORPHA:2409
Kleeblattschaedel
Craniosynostosis, Proptosis, Cloverleaf skull OMIM:148800
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Inability to walk, Lumbar hyperlordosis, Obesity, Talipes equinovarus... OMIM:616756
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Eng-Strom Syndrome
Scoliosis, Brachydactyly, Arthritis, Camptodactyly of finger ORPHA:1937
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism OMIM:615269
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Forsythe-Wakeling Syndrome
Osteoporosis, Prominent nasal bridge, Decreased body weight OMIM:613606
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Rickets, Femo... OMIM:277440
3-Hydroxyisobutyric Aciduria
Microcephaly, Micrognathia, Microtia ORPHA:939
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Small for gestational age, Dental malocclusion, Short toe, ... ORPHA:2980
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Wei... ORPHA:141152
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Hypospadias, Broad distal phalanx of finger, Depressed nasal bridge, Sandal ga... OMIM:615761
Three M Syndrome 2
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Slender long bone, Clinodactyly, D... OMIM:612921
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bo... ORPHA:800
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb mus... OMIM:620351
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis, Premature ski... OMIM:231070
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Proximal muscle weakness in upper limb... ORPHA:435387
Crisponi/Cold-Induced Sweating Syndrome 2
Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, Weakness of facial musculature, 2-3 ... OMIM:610313
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Type 1 fibers relatively ... OMIM:255310
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Broad nasal tip, Failure to thrive... OMIM:619542
Acrocephalopolydactyly
Oxycephaly, Hypertelorism, Microtia ORPHA:221054
Periventricular Nodular Heterotopia 7
Microretrognathia, Proptosis, Contracture of the proximal interphalangeal joint of the 2nd finger... OMIM:617201
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Reduced bone mineral density, Decreased body weight, Brachydactyly, Sh... OMIM:618392
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop... OMIM:620099
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Inability to walk, Decrease... OMIM:218000
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Depressed nasal bridge, Rhizomelia, Abnormal epiphysis morphology... ORPHA:3098
Wilson-Turner Syndrome
Malar prominence, Micrognathia, Deeply set eye, Microtia ORPHA:3459
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Microcephaly, Brachycephaly, Mandibular prognathia, Macrotia ORPHA:93950
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Joint hypermobility, Low ... ORPHA:1803
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Micrognathi... ORPHA:808
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Inguinal hernia, Malar flattening, Microcephaly, Brachycephaly, Biparietal narr... ORPHA:1292
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Short palpebral fissure, Broad ... OMIM:614541
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis, Microcephaly, Frontal bossing, Malar flattening ORPHA:85172
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Dental crowding, Failure to thrive, Pathologic fracture, ... OMIM:614008
Hypochondroplasia
Depressed nasal bridge, Flared metaphysis, Lumbar hyperlordosis, Trident hand, Limited elbow exte... OMIM:146000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Umbilical hernia, Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Hype... ORPHA:171839
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Pterygium... OMIM:259450
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Wide nasal bridge, Osteopenia, Abnormality of primary teeth, Narrow mouth, Hyperextensible skin, ... ORPHA:75496
8P23.1 Microdeletion Syndrome
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Deeply set eye, Microcephaly, Bipari... ORPHA:251071
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Radioulnar synostosis, Talipes equi... OMIM:245600
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:615546
Meier-Gorlin Syndrome 8
Low-set ears, Micrognathia, Microtia OMIM:617564
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Inabili... OMIM:166300
Myosclerosis, Autosomal Recessive
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles... OMIM:255600
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipes equinovarus, Prom... OMIM:249420
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir... OMIM:601957
Neuropathy, Congenital Hypomyelinating, 3
Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Gingival overgrow... OMIM:618186
Moderate Multiminicore Disease With Hand Involvement
Knee dislocation, Type 1 muscle fiber predominance, Joint hypermobility, Intrinsic hand muscle at... ORPHA:178145
Acrodysostosis 1 With Or Without Hormone Resistance