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
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Immunodeficiency 33
Hypodontia, Increased circulating IgA level, Delayed eruption of teeth, Conical tooth, Decreased ... OMIM:300636
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Chromosome 3Q29 Duplication Syndrome
Short nose, Wide nasal bridge, Abnormally large globe, Macrocephaly, Bulbous nose, Obesity, Micro... OMIM:611936
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... ORPHA:566943
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar... ORPHA:564003
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Gait disturbance, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis ... ORPHA:2501
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni... ORPHA:563991
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... OMIM:265900
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Isotretinoin Syndrome
Abnormality of the outer ear, Biparietal narrowing, Micrognathia, Microtia ORPHA:2305
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Frontal bossing, Microtia, Unsteady gait, Gait ataxia, Deeply set eye OMIM:618158
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... OMIM:265800
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Gne Myopathy
Abnormal right hemidiaphragm morphology, Limited shoulder movement, Lower limb amyotrophy, Hip fl... ORPHA:602
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Failure to thrive, Short nose, Malar f... ORPHA:217340
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Periodontal Ehlers-Danlos Syndrome
Micrognathia, Microdontia, Gingival overgrowth, Periodontitis, Joint hyperflexibility, Hyperexten... ORPHA:75392
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... OMIM:601668
Rubinstein-Taybi Syndrome 2
Carious teeth, Prominent nose, Micrognathia, High palate, Convex nasal ridge, Narrow palate, Incr... OMIM:613684
Rafiq Syndrome
Underdeveloped nasolabial fold, Prominent nose, Flat occiput, Smooth philtrum, Cutis laxa, Short ... OMIM:614202
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Hype... ORPHA:178377
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Fryns Macrocephaly
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... OMIM:600302
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... OMIM:612350
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Taurodontism
Taurodontia OMIM:272700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Robinow Syndrome, Autosomal Dominant 2
Short nose, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Micrognathia, Depressed... OMIM:616331
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Large fontanelles, Mandibular aplasia, Posteriorly rotated ears, Low-set ears, Prop... ORPHA:1832
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Isolated Brachycephaly
Brachycephaly, Hypertelorism, Hearing impairment, Proptosis, Midface retrusion ORPHA:35099
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Spastic gait, Hypertelorism, Macrotia, Abnormality of calvarial morphology... ORPHA:3079
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Abnormality of the knee, Dystrophic fingernails, Foot acroosteolysis, Ta... ORPHA:970
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Malar flattening, Low-set, posteriorly rotated ears, Proptosis, Midface retrusion ORPHA:2343
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... ORPHA:40
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Genu recurvatum, Proximal... ORPHA:206549
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... OMIM:300602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Macrocephaly, Benign Familial
Frontal bossing, Biparietal narrowing, Dolichocephaly, Macrocephaly OMIM:153470
Pycnodysostosis
Carious teeth, Midface retrusion, Obtuse angle of mandible, Increased bone mineral density, Hypop... ORPHA:763
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Micrognathia, Retinopathy, Proptosis, Microcep... OMIM:616171
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Delayed clo... OMIM:225410
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, High palate, Midface retrusion, Capitate-hamate fu... OMIM:602849
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... OMIM:155050
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Midface retrusion, Talipes equinovarus, Short metatarsal,... OMIM:251450
Microcephaly 6, Primary, Autosomal Recessive
Hypertelorism, Microcephaly, Microtia OMIM:608393
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... ORPHA:2831
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Knee dislocation, Small epiphyses, Hip contracture, Coronal cleft vertebrae, Irregular vertebral ... OMIM:618363
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth OMIM:613849
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Fifth finger distal phalanx clinodactyly, Delayed eruption of ... OMIM:257850
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... OMIM:300431
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Micrognathia, Cachexia, Wrist swelling, Abnormality of epiphysis morphology, Me... ORPHA:2774
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Prominent nose, Failure to thrive in infancy, Cachexia, Hip contracture, Tapered f... OMIM:616801
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormality of the pinna, Posteriorly rotated ears, Biparietal narrowing, Hypoplasia of the maxil... ORPHA:228396
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Hypoplasia of the... ORPHA:75508
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Mental Retardation, X-Linked 91
High palate, Short nose, Small hand, Cubitus valgus, Short 5th finger, Short foot, Obesity, Clino... OMIM:300577
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Proptosis, Microcephaly OMIM:608432
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Ck Syndrome
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Slender build, Epicanthus, Abnormal... OMIM:300831
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... ORPHA:363417
Chondroectodermal Dysplasia With Night Blindness
Gait disturbance, Metaphyseal dysplasia, Abnormal hair morphology, Abnormality of the knee, Fract... ORPHA:319195
Mucolipidosis Type Iv
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, EEG abnormality, Retinopathy, Bipa... ORPHA:578
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Kyphoscol... OMIM:214150
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Cherubism
Optic atrophy, Abnormal mandible morphology, Broad jaw, Proptosis ORPHA:184
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, High palate, Cutis laxa, Long philtrum, Failure to thrive, Short nose, Malar flatt... OMIM:219200
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Enlargement of the ankles, Limitation of movement at ankles, Shou... ORPHA:437572
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd... ORPHA:79113
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Tetraploidy
Biparietal narrowing, Micrognathia, Hypoplasia of the ear cartilage, Microcephaly ORPHA:3305
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Failure to thrive, Bowing of the long bones, Malar flattening, Congenital hip ... OMIM:612940
C Syndrome
Accessory oral frenulum, Short nose, Fused sternal ossification centers, Patent ductus arteriosus... OMIM:211750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... ORPHA:99642
Man1B1-Cdg
Underdeveloped nasolabial fold, Prominent nose, 2-3 toe syndactyly, Smooth philtrum, Eclabion, Sh... ORPHA:397941
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L... ORPHA:266
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Limb muscle weakness, Spondylolisthesis at L5-S1, Atlantoaxial ins... OMIM:600561
Peho Syndrome
Optic atrophy, Midface retrusion, Malar flattening, Arthrogryposis multiplex congenita, Macrotia,... ORPHA:2836
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Abnormality of pelvic girdle bone morphology, Hyperostosis, Metat... OMIM:144750
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular... OMIM:614669
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Mcdonough Syndrome
Abnormal palate morphology, Micrognathia, Cachexia, Underdeveloped nasal alae, Short philtrum, Op... ORPHA:2471
Progressive Pseudorheumatoid Dysplasia
Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enlargement of the proximal f... OMIM:208230
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... OMIM:256030
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Proptosis, Microcephaly OMIM:604804
Achondroplasia
Limited hip extension, Genu varum, Depressed nasal bridge, Lumbar kyphosis in infancy, Spinal ste... OMIM:100800
Hypochondroplasia
Genu varum, Frontal bossing, Limited elbow extension, Abnormality of pelvic girdle bone morpholog... OMIM:146000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypertelorism, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Macrotia, Tu... ORPHA:1005
Conductive Deafness-Malformed External Ear Syndrome
Hernia of the abdominal wall, Conductive hearing impairment, Overfolded helix, Abnormality of the... ORPHA:3216
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Waddling gai... ORPHA:363454
Anauxetic Dysplasia 3
Plagiocephaly, Short middle phalanx of finger, Depressed nasal bridge, Cutis laxa, Oligodontia, M... OMIM:618853
Spondyloepiphyseal Dysplasia, Nishimura Type
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly... ORPHA:163649
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema OMIM:613490
Larsen-Like Syndrome
Cleft palate, Radial deviation of the 4th finger, Absent nasal bridge, Talipes equinovarus, Brach... OMIM:608545
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, High palate, Depressed nasal bridge, Open bite, Brachycephaly, Man... ORPHA:1327
Neuronal Intestinal Pseudoobstruction
Natal tooth, Decreased circulating antibody level ORPHA:99811
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Blepharophimosis-Impaired Intellectual Development Syndrome
Talipes equinovarus, Patent ductus arteriosus, Thin upper lip vermilion, Anteverted nares, Plagio... OMIM:619293
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Frontal bossing, Waddling gait, Proptosis, Dolichocephaly OMIM:241510
Prieto X-Linked Mental Retardation Syndrome
Prominent nose, Talipes equinovarus, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Radi... OMIM:309610
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Broad nasal tip... ORPHA:166108
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Upslanted palpeb... ORPHA:3409
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hypoplastic inferior ilia, Acne, Reduced bone mineral dens... ORPHA:577
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Talipes equinovarus, Achilles tendon contracture, Knee flexion contracture, Hip ... OMIM:615290
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Hypoplasia of the femoral head, Small... OMIM:617396
Alpha-Mannosidosis
Widely spaced teeth, Depressed nasal bridge, Open bite, Macroglossia, Mandibular prognathia, Bowi... ORPHA:61
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Trigonocephaly, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Abnormal retin... ORPHA:2994
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Midface retr... ORPHA:1248
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture... OMIM:602484
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Shashi-Pena Syndrome
Hypertelorism, Posteriorly rotated ears, Macrocephaly, Proptosis, Retrognathia, Low-set ears OMIM:617190
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
2-3 toe syndactyly, Micropenis, Bulbous nose, Short toe, 4-5 toe syndactyly, Frontal balding, Pat... ORPHA:3041
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... OMIM:600175
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Toluene Embryopathy
Micrognathia, Hypoplasia of the zygomatic bone, Low-set ears, Biparietal narrowing, Protruding ea... ORPHA:1920
Achondroplasia
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Antevert... ORPHA:15
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181
Mulibrey Nanism
Hypodontia, Depressed nasal bridge, Hypoplastic frontal sinuses, Thickened cortex of long bones, ... OMIM:253250
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy, Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Micrognathia, Abnormality of calvarial morphology, Proptosis, Camptodactyly of finger, Biparietal... ORPHA:1323
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Frontal bossing, Long philtrum OMIM:218010
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Progeroid Syndrome, Petty Type
Cutis laxa, Mandibular prognathia, Failure to thrive, Redundant skin, Decreased skull ossificatio... ORPHA:2963
Warburg Micro Syndrome 1
Hypertrichosis, Ptosis, Failure to thrive, Kyphoscoliosis, Osteoporosis, External genital hypopla... OMIM:600118
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Cubi... ORPHA:79106
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Prominent nose, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Coxa valga, Finger clinod... ORPHA:2958
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Osteoporosis, Long eyelashes, Dislocated radial head, Wo... OMIM:614856
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... ORPHA:2258
Hall-Riggs Mental Retardation Syndrome
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Irregular vertebral endplates, Fai... OMIM:234250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Osteoporosis, Epiphyseal dysplasia, Dia... OMIM:614727
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary tooth, Sagittal craniosynostosis, ... OMIM:614188
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Mental Retardation, Buenos Aires Type
Carious teeth, Prominent nose, High palate, Wide mouth, Mandibular prognathia, Failure to thrive,... OMIM:249630
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Biparietal narrowing, Protruding ear, Microce... ORPHA:2518
Distal Trisomy 14Q
Abnormal lung lobation ORPHA:1705
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... OMIM:275595
Tetrasomy 12P
Cachexia, Long philtrum, Short nose, Thick upper lip vermilion, Delayed eruption of teeth, Abnorm... ORPHA:884
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Sho... OMIM:271530
Chromosome 18P Deletion Syndrome
Dystonia, Micrognathia, High palate, Redundant neck skin, Small for gestational age, Tooth malpos... OMIM:146390
Bangstad Syndrome
Abnormally large globe, Convex nasal ridge, Small for gestational age OMIM:210740
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol... ORPHA:536516
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... ORPHA:2787
X-Linked Intellectual Disability, Cabezas Type
Cubitus valgus, Abnormal hair pattern, Camptodactyly of finger, Toe syndactyly, Prominent nose, E... ORPHA:85293
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Abnormality of the pinna, Frontal bossing, Macrocephaly, Microtia, Low-set... OMIM:613603
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Weaver Syndrome
Micrognathia, Talipes equinovarus, Long philtrum, Large hands, Abnormality of the metaphysis, Dee... ORPHA:3447
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Atelosteogenesis, Type Ii
Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali... OMIM:256050
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Three M Syndrome 1
Hypospadias, Hypoplastic pelvis, Depressed nasal bridge, Small for gestational age, Joint disloca... OMIM:273750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Dysspondyloenchondromatosis
Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Metaphyseal enchondro... ORPHA:85198
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... ORPHA:3352
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Li... ORPHA:157973
Christianson Syndrome
Dystonia, Cachexia, Adducted thumb, Mandibular prognathia, Arthrogryposis multiplex congenita, Ab... ORPHA:85278
Odontochondrodysplasia
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ... ORPHA:166272
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Spondyloepimetaphyseal Dysplasia, Irapa Type
Gait disturbance, Upper limb undergrowth, Abnormal joint morphology, Abnormality of epiphysis mor... ORPHA:93351
Short Syndrome
Enlarged epiphyses, Hypodontia, Micrognathia, Underdeveloped nasal alae, Small for gestational ag... OMIM:269880
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
20P12.3 Microdeletion Syndrome
Hypertelorism, Malar flattening, Macrocephaly, Microtia, Hypoplasia of the maxilla, Thickened hel... ORPHA:261295
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
1Q44 Microdeletion Syndrome
Micrognathia, Optic disc hypoplasia, Hypertelorism, Frontal bossing, Prominent metopic ridge, Bip... ORPHA:238769
Cranioectodermal Dysplasia
Rhizomelia, Craniosynostosis, Osteoporosis, Abnormality of the metaphysis, Epicanthus, Finger syn... ORPHA:1515
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... ORPHA:2325
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ... OMIM:259610
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Rhizomelia, Stippled calcification proximal humeral epiphyses, Short humerus, Abnor... OMIM:222765
Winchester Syndrome
Arthropathy, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the fee... OMIM:277950
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:502
Ehlers-Danlos Syndrome, Classic Type, 2
Talipes equinovarus, Generalized joint laxity, Congenital hip dislocation, Joint hypermobility, R... OMIM:130010
Microcephaly 5, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Proptosis, Microcephaly, Hearing impairment OMIM:608716
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Lessel-Kreienkamp Syndrome
Plagiocephaly, Wide nasal bridge, Patent ductus arteriosus, Attention deficit hyperactivity disor... OMIM:619149
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
6Q16 Microdeletion Syndrome
Micrognathia, Macrocephaly, Retrognathia, Microtia, Broad-based gait, Low-set ears, Abnormal ear ... ORPHA:171829
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... ORPHA:280333
Aredyld Syndrome
Cachexia, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eru... ORPHA:1133
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Crouzon Disease
Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Hearing impairment, F... ORPHA:207
Extensor Tendons Of Finger Anomalies
Osteoporosis, Skeletal muscle atrophy, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis OMIM:604571
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Dental malocclusion OMIM:616108
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short 5th metacarpal, Short philtrum, Metaphyseal dysplasia, Convex nasa... OMIM:156510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Short nose, Toe clinodactyly, Limit... ORPHA:457395
Renpenning Syndrome
High, narrow palate, Cachexia, Cleft palate, Prominent nose, Short philtrum, Mandibular prognathi... ORPHA:3242
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Malar flattening, Fro... ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Broad alveolar... ORPHA:2863
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Cutis laxa, Long upper lip, Talipes equinovarus, Epiphyseal dysplasia, Hip dislocat... OMIM:615349
Mullegama-Klein-Martinez Syndrome
Micrognathia, Congenital diaphragmatic hernia, Frontal bossing, Sensorineural hearing impairment,... OMIM:301022
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Hip dysplasia, Short distal phalanx of finger, Den... ORPHA:1858
Mosaic Trisomy 14
Micrognathia, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of... ORPHA:1703
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormality of the knee, Short nose, Pr... ORPHA:251028
Three M Syndrome 2
Prominent nasal tip, High palate, Depressed nasal bridge, Small for gestational age, Long philtru... OMIM:612921
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Broad femoral neck, Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, I... OMIM:609223
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Acrodysostosis
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Delayed eruption of ... ORPHA:950
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Brachycephaly, Hypertelorism, Malar flattening, Sensorineura... OMIM:109120
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Talipes equinovarus, Joint contracture of the hand, Waddling gait, Hy... OMIM:611067
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears ORPHA:357175
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Hypotelorism, Abnormality of the pinna, Sensorineural hearing impa... OMIM:618500
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Myopathy, Congenital ptosis, Slender build, Hyperlordosis, Multiple joint contr... ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive, Osteoporosis, Kyphosis, Scoliosis OMIM:618234
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Brachycephaly, Craniosynostosis, Malar flattening, Hypertelorism, Turricephaly, Abn... ORPHA:2145
Isolated Glycerol Kinase Deficiency
Myopathy, Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis ORPHA:408
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Optic atrophy, Midface retrusion, Interictal epileptiform activity, Progressive microcephaly, Hyp... OMIM:618737
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Forsythe-Wakeling Syndrome
Frontal bossing, Decreased body weight, Osteoporosis, Prominent nasal bridge OMIM:613606
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Microtia, Biparietal n... ORPHA:1770
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Pneumonia, Hamstring contractures, Spinal rig... ORPHA:97244
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Seckel Syndrome 1
Small anterior fontanelle, Cleft palate, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped... OMIM:210600
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... OMIM:118651
Flynn-Aird Syndrome
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... OMIM:136300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Hypogonadotropic hypogonadism, Osteoporosis, Acute rhabdomyolysis, Long eyelashes, Abn... ORPHA:48431
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Optic atrophy, Macrotia, Proptosis, Progressive flexion contractures, Protruding e... OMIM:617481
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Abnormal bone ossificatio... ORPHA:2563
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fractu... ORPHA:166277
Ck Syndrome
Almond-shaped palpebral fissure, Long fingers, Kyphoscoliosis, Slender build, Epicanthus, Promine... ORPHA:251383
15Q14 Microdeletion Syndrome
Low-set ears, Deeply set eye, Biparietal narrowing, Inguinal hernia, Microcephaly ORPHA:261190
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Hypoplasia of the maxilla, Proptosis ORPHA:2776
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Trigonocephaly, Micrognathia, Cleft palate, Redundant skin ORPHA:1779
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b... ORPHA:93308
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Prominent nasal bridge, Dela... OMIM:601812
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction, Skeletal muscle atrophy ORPHA:2380
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Microtia, Joint contracture of the 5th finger, Micro... OMIM:248910
Flynn-Aird Syndrome
Carious teeth, Bone cyst, Cachexia, Ataxia, Joint stiffness, Skin ulcer ORPHA:2047
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Micrognathia, Hypertelorism, Pericallosal lipoma, Macrocephaly, Mi... ORPHA:398156
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Midface retrusion, Micrognathia, Microtia, Conductive hearing impairment OMIM:300946
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Myopathy, Neonatal death, Joint hypermobility, Micropenis, Centrally nucleated skele... OMIM:300219
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ... OMIM:249620
Parietal Foramina With Cleidocranial Dysplasia
Symmetrical, oval parietal bone defects, Parietal foramina, Widely patent fontanelles and sutures... OMIM:168550
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Deeply set eye, Flexion contracture, Microtia OMIM:612138
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Meier-Gorlin Syndrome 8
Low-set ears, Micrognathia, Microcephaly, Microtia OMIM:617564
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Shallow orbits, Brachycephaly, Mandibular prognathi... OMIM:123500
Acrocephalopolydactyly
Hypertelorism, Microtia, Oxycephaly, Premature closure of fontanelles ORPHA:221054
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Depressed nasal bridge, Hip osteoarthritis, Frontal bossing, Short thumb, Waddling gait, Broad ha... OMIM:165800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Cachexia, Long philtrum, Short nose, Postaxial hand polydactyly, Micr... ORPHA:1389
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Micrognathia, Smooth philtrum, Cachexia, Short philtrum, Talipes equinovarus, Hip ... ORPHA:371364
Autosomal Dominant Omodysplasia
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation ORPHA:93328
Non-Distal Monosomy 10Q
Biparietal narrowing, Gait disturbance, Ataxia ORPHA:1581
Cantu Syndrome
Curly eyelashes, Congenital, generalized hypertrichosis, Broad hallux, Anteverted nares, Hypoplas... OMIM:239850
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth ORPHA:181393
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Salih Myopathy
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... OMIM:611705
Keppen-Lubinsky Syndrome
Abnormally large globe, Underdeveloped nasal alae, Microcephaly, Failure to thrive OMIM:614098
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... OMIM:259600
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Di... OMIM:616228
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Micrognathia, High palate, Cachexia, Limb joint contracture, Hand clenching, Gingival o... OMIM:618186
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... OMIM:618729
Ollier Disease
Platyspondyly, Abnormality of the metaphysis, Osteolysis, Precocious puberty, Abnormal cartilage ... ORPHA:296
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Fetal Alcohol Syndrome
Micrognathia, Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Biparietal narr... ORPHA:1915
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Convex nas... OMIM:216550
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger, Short long bone,... OMIM:184260
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shaped epiphyses of ... OMIM:190350
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Mental Retardation, Autosomal Recessive 35
Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears OMIM:615162
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Brachycephaly, Macrotia, Hearing impairment, Progressive microcephaly, Proptosis, ... OMIM:608027
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Micrognathia, High palate, Knee dislocation, Osteoporosis, Shoulder dislocation, H... OMIM:618000
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... ORPHA:1798
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Failure to thrive, Supernumerary tooth, Wide nasal base, Delayed erupt... OMIM:264475
Bethlem Myopathy 2
Myopathy, Hip dislocation, Increased variability in muscle fiber diameter, Flexion contracture, S... OMIM:616471
Potocki-Lupski Syndrome
Prominent nasal tip, Micrognathia, High palate, Smooth philtrum, Wide mouth, Small for gestationa... OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Depressed nasal bridge, Low anterior hairline, Postaxial polydactyly, Ptosis, Upslan... OMIM:615761
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Short nose, Abnormality of the metaphysis, Reduced bone mi... ORPHA:2370
Hyperostosis Cranialis Interna
Optic atrophy, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, Facial pa... OMIM:144755
Lowry-Maclean Syndrome
Small anterior fontanelle, High, narrow palate, Micrognathia, Cleft palate, Convex nasal ridge, T... ORPHA:2409
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Carious teeth, High palate, Smooth philtrum, Broad nasal tip, Redundant neck skin, Long philtrum,... ORPHA:357074
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Hypertelorism, Posteriorly rotated ears, Deeply set eye, Hyperactivity, Microtia, ... OMIM:618089
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Talipes equinovarus, Kyphosis, Hip dislocation, Inability to walk, Waddling gait, Ataxi... OMIM:616756
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... ORPHA:166011
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Talon cusp, Short metatars... OMIM:605282
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... ORPHA:2097
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Convex nasal ridge, Cachexia, Weight loss, Reduced bone mineral density, Narrow mou... ORPHA:1979
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... OMIM:614078
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Large iliac wing, Brachycephaly, Osteopetros... ORPHA:2780
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Aarskog-Scott Syndrome
Cleft palate, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of fin... ORPHA:915
Hallermann-Streiff Syndrome
Malar flattening, Underdeveloped nasal alae, Micrognathia, High palate, Narrow nose, Wormian bone... OMIM:234100
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Micrognathia, Relative macrocephaly, Hypertelorism, Posteriorly rotated ears, Low-se... OMIM:618529
King-Denborough Syndrome
Bilateral ptosis, Low hanging columella, Minicore myopathy, Weakness of facial musculature, Downs... OMIM:619542
Kleeblattschaedel
Craniosynostosis, Proptosis, Cloverleaf skull OMIM:148800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Depressed nasal bridge, Large fontanelles, Long philtrum, Brachycep... ORPHA:171839
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Wide nose, Osteoporosis, Short neck, Scoliosis, Joint laxity OMIM:616033
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Frontal bossing, Malar flattening, Proptosis, Microcephaly ORPHA:85172
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Ptosis, Bra... ORPHA:2511
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Calvarial hyperos... OMIM:101800
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo... OMIM:615546
Craniofaciofrontodigital Syndrome
Ecchymosis, Depressed nasal bridge, Palmoplantar cutis laxa, Long philtrum, Short nose, Cubitus v... OMIM:114620
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Micrognathia, Cachexia, Patellar aplasia, Wide mouth, Short philtrum, ... ORPHA:2058
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Lichtenstein Syndrome
C1-C2 subluxation, Hirsutism, Decreased circulating IgA level, Ulnar deviation of finger, Increas... OMIM:246550
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt... OMIM:602483
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Myopathy, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... OMIM:277440
Non-Distal Trisomy 10Q
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Brachycephaly, Short nose,... ORPHA:1695
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Failure to thrive, Slender build, Cubitus valgus, Disharmonious carpal... OMIM:608154
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hypodontia, Micrognathia, High palate, 2-3 toe syndactyly, Tapered finger, Short nose, Thick verm... OMIM:617061
Thoracomelic Dysplasia
Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morp... ORPHA:1803
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Duchenne And Becker Muscular Dystrophy
Gait disturbance, Myopathy, Skeletal muscle atrophy, Reduced bone mineral density, Slender long b... ORPHA:262
Moderate Multiminicore Disease With Hand Involvement
Knee dislocation, Recurrent patellar dislocation, Facial palsy, Intrinsic hand muscle atrophy, Ty... ORPHA:178145
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Failure to thrive, Trigonocephaly, Short nose, Deep philtrum, Osteopen... ORPHA:329178
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo... OMIM:601390
Schwartz-Jampel Syndrome, Type 1
Long eyelashes in irregular rows, Anterior bowing of long bones, Hip contracture, Talipes equinov... OMIM:255800
Schwartz-Jampel Syndrome
Long eyelashes in irregular rows, Hip contracture, Talipes equinovarus, Skeletal muscle hypertrop... ORPHA:800
X-Linked Intellectual Disability, Stocco Dos Santos Type
Depressed nasal bridge, Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bil... ORPHA:85288
Geroderma Osteodysplasticum
Tibial bowing, Cutis laxa, Mandibular prognathia, Increased susceptibility to fractures, Osteopor... OMIM:231070
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Short nose, Malar flattening, Drooling, Open mouth... OMIM:613670
Frank-Ter Haar Syndrome
Redundant neck skin, Talipes equinovarus, Thin upper lip vermilion, Camptodactyly, Anteverted nar... OMIM:249420
Menkes Disease
Metaphyseal spurs, Cutis laxa, Brachycephaly, Metaphyseal widening, Osteoporosis, Wormian bones, ... OMIM:309400
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Hamamy Syndrome
Hypodontia, High palate, Micrognathia, Smooth philtrum, Wide mouth, Long philtrum, Tapered finger... OMIM:611174
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Pierpont Syndrome
Widely spaced teeth, Smooth philtrum, Broad nasal tip, Long upper lip, Short finger, Failure to t... OMIM:602342
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Convex nasal ridge, Mesomelia, Tooth agenesis, Brachyda... ORPHA:1277
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Talipes equinovarus, Increased sus... OMIM:259450
Kniest Dysplasia
Hip contracture, Hypoplastic pelvis, Gait disturbance, Depressed nasal bridge, Coronal cleft vert... OMIM:156550
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla, Microcephaly ORPHA:93950
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
3-Hydroxyisobutyric Aciduria
Micrognathia, Microcephaly, Microtia ORPHA:939
Mesomelic Limb Shortening And Bowing
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... OMIM:249710
Ring Chromosome 10 Syndrome
Micrognathia, Cachexia, Long philtrum, Tapered finger, Thin vermilion border, Wide nasal bridge, ... ORPHA:1438
3M Syndrome
Hypospadias, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Hypoplastic pelvis, Incre... ORPHA:2616
Coffin-Lowry Syndrome
Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Thick nasal alae, Gait di... ORPHA:192
Macrocephaly/Autism Syndrome
Frontal bossing, Biparietal narrowing, Postnatal macrocephaly OMIM:605309
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Midface r... OMIM:618379
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Congenital hip dislocation, Type 1 fibers relatively smalle... OMIM:255310
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Hypotelorism, Frontal bossing, Microcephaly, Microtia, Deeply se... OMIM:612530
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cutis laxa, Arachnodactyly, Wide nasal bridge, Osteopenia, Abnormality of primary teeth, Gingivit... ORPHA:75496
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteo... OMIM:166300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Micrognathia, Diastema, Malar flattening, Broad columella, Dental malo... ORPHA:436245
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Blepharonasofacial Malformation Syndrome
Underdeveloped nasal alae, Cleft palate, Long philtrum, Wide nose, Wide nasal bridge, Finger synd... ORPHA:1252
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Limited elbow extension, Anteverted nares, Flat a... OMIM:618870
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Osteopenia OMIM:615270
Wilson-Turner Syndrome
Malar prominence, Micrognathia, Deeply set eye, Microtia ORPHA:3459
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares ORPHA:2015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait disturbance, Proximal muscle weakness in lower limbs, Gait imbalance, Foot dorsiflexor weakn... ORPHA:435387
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad dista... OMIM:245600
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Malar flattening, Abnormality of the outer ear, Micr... OMIM:248390
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Small for gestational age, Short finger, Failure to thrive, Su... ORPHA:2980
Distal 22Q11.2 Microduplication Syndrome
Micrognathia, Mandibular prognathia, Hypertelorism, Optic disc coloboma, Low-set ears, Frontal bo... ORPHA:261337
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Myosclerosis, Autosomal Recessive