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Gene: Slc10a7 MGI:1924025

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 10 (sodium/bile acid cotransporter family), member 7
Synonyms:
2410193C02Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Slc10a7 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 Slc10a7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363

The table below shows human diseases predicted to be associated to Slc10a7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Midface retrusion, Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Sho... OMIM:118651
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Turricephaly, Severe short stature, Prominent nose, Cari... OMIM:203550
Hall-Riggs Syndrome
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Thick lower lip ... OMIM:234250
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Osteoporosis, Diaphysea... OMIM:614727
Vitamin D-Dependent Rickets, Type 2A
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... OMIM:277440
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Anteverted nares, Depressed nasal bridge,... OMIM:222765
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,... ORPHA:1515
Mulibrey Nanism
Frontal bossing, Wide nose, Dental crowding, Single transverse palmar crease, Depressed nasal bri... OMIM:253250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Thin bo... OMIM:264700
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short metatar... OMIM:612463
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Midface retrusion, Short stature, Absent radius, ... OMIM:171480
Grant Syndrome
Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia, O... ORPHA:2097
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, ... ORPHA:166277
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ... OMIM:613849
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Autosomal Dominant Omodysplasia
Short humerus, Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocati... ORPHA:93328
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Abnormal bone ossification... ORPHA:163649
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Short statur... ORPHA:289157
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Thickened calvaria, Pers... OMIM:265900
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri... ORPHA:2831
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short toe, Sh... OMIM:103580
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Short stature, Coxa vara, Growth delay,... OMIM:616716
Omodysplasia 2
Short humerus, Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cle... OMIM:164745
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... ORPHA:950
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr... ORPHA:763
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Odontochondrodysplasia
Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Sho... ORPHA:166272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Anteverted nares, Decreased... OMIM:616897
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... OMIM:602471
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... OMIM:201170
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone-shaped epiphyses o... OMIM:602849
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Flat occiput, Bilateral single transve... ORPHA:2511
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... ORPHA:440354
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Pierpont Syndrome
Brachycephaly, Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcaneal ... OMIM:602342
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... OMIM:300590
2Q32Q33 Microdeletion Syndrome
Dental crowding, Micrognathia, Brachycephaly, Oligodontia, High palate, Clinodactyly of the 5th f... ORPHA:251019
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple pre... OMIM:259420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Joint hypermobility, Joint stiffness, ... OMIM:619184
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Downturned corners of mouth, Abnormal epiphysis morphology, Intrauterine gr... ORPHA:2643
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ... OMIM:600204
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... OMIM:210600
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... OMIM:210720
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... OMIM:619795
Dysostosis, Stanescu Type
Micromelia, Hypoplasia of the maxilla, Brachycephaly, Increased bone mineral density, Short statu... ORPHA:1798
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Frontal ... OMIM:600325
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... ORPHA:56304
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... OMIM:601559
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... ORPHA:1452
48,Xyyy Syndrome
Pes planus, Depressed nasal bridge, Abnormal foot morphology, Thick lower lip vermilion, Recurren... ORPHA:99329
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ... ORPHA:3152
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo... OMIM:619293
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Underdev... OMIM:263210
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... OMIM:239000
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly... OMIM:300484
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Anteverted nares, Micromelia, Mic... ORPHA:93329
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Brachycephaly, Downturned corners of mouth, High palat... OMIM:300882
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation, Reduced bone mineral density OMIM:620200
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Osteoporosis, Cone-shaped epiph... ORPHA:71267
Pierpont Syndrome
Joint laxity, Thin upper lip vermilion, Pes planus, Small for gestational age, Wide nasal ridge, ... ORPHA:487825
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Larsen-Like Syndrome
Joint laxity, Frontal bossing, Short stature, Wide anterior fontanel, Dental malocclusion, Brachy... OMIM:608545
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... ORPHA:2878
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High pala... ORPHA:1520
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Thanatophoric Dysplasia Type 1
Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,... ORPHA:1860
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Joint stiffness, Avascu... OMIM:132400
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Inguinal hernia, Small for gestational age, Decreased palmar creases, Anteve... OMIM:615834
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... OMIM:613848
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split... ORPHA:2145
Femoral-Facial Syndrome
Thin upper lip vermilion, Inguinal hernia, Short femur, Short stature, Micrognathia, Abnormal fib... ORPHA:1988
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... ORPHA:2633
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Short nose, Unilambdoid synostosis,... OMIM:618577
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Tricho-Dento-Osseous Syndrome
Frontal bossing, Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, En... ORPHA:3352
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Choanal stenosis, Mi... OMIM:259775
Pseudodiastrophic Dysplasia
Frontal bossing, Severe short stature, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micr... OMIM:264180
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... OMIM:612350
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Pes planus, Midface retrusion, Frontal bossing, Arachnodactyly, Short stat... OMIM:619721
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly ORPHA:35099
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na... OMIM:601224
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short metatar... OMIM:612462
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Thick nasal alae, Depressed nasal bridge, Short stature, Abnormality of th... ORPHA:557003
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... OMIM:259600
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Anteverted n... OMIM:613792
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont... OMIM:218330
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... ORPHA:83468
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... OMIM:617752
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Scapular winging,... ORPHA:1327
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Frontal bossing, Short stature, Osteomalacia, Bowing of the legs, O... OMIM:307800
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower... OMIM:615761
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Failure to thrive in infa... OMIM:616801
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short... OMIM:200610
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Pes planus, Anteverted nares, Tapered finger, Small hand, Depressed nasal ... OMIM:618672
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Recurrent fractur... OMIM:610967
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... ORPHA:356961
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Small for gestation... OMIM:607143
Dental Ankylosis
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... OMIM:226650
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Abnormality of the hand, Mi... ORPHA:1387
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Hamamy Syndrome
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... OMIM:611174
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... OMIM:251230
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Hypochondroplasia
Frontal bossing, Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Fl... OMIM:146000
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Three M Syndrome 3
Prominent nasal tip, Frontal bossing, Small for gestational age, Anteverted nares, Short stature,... OMIM:614205
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... ORPHA:166016
Seckel Syndrome 5
11 pairs of ribs, Pes planus, Short stature, Selective tooth agenesis, Prominent nasal bridge, Mi... OMIM:613823
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ... ORPHA:420794
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... OMIM:614613
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc... ORPHA:2780
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... ORPHA:1133
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atresia, Mic... OMIM:156400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid... OMIM:207410
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... ORPHA:1782
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Kniest Dysplasia
Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu... OMIM:156550
Pelviscapular Dysplasia
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hy... ORPHA:93333
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Short stature, Large for gestational age, Thick lower... ORPHA:2563
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Brachycephaly, Short nose, S... ORPHA:1514
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... ORPHA:2491
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of... OMIM:257850
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive OMIM:226700
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Promi... OMIM:617364
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Dolichocephaly, Metaphyse... OMIM:609052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion OMIM:613576
Cooper-Jabs Syndrome
Frontal bossing, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Prox... ORPHA:1488
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs... ORPHA:88630
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Hamart... OMIM:617925
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... OMIM:616300
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... OMIM:620099
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... OMIM:259440
Brachydactyly-Preaxial Hallux Varus Syndrome
Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho... ORPHA:1278
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... OMIM:610915
3M Syndrome
Congenital hip dislocation, Micromelia, Clinodactyly of the 5th finger, Long philtrum, Hypoplasia... ORPHA:2616
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B... OMIM:600430
Potocki-Shaffer Syndrome
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... ORPHA:52022
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hyperparathyroidism, Transient Neonatal
Osteopenia, Frontal bossing, Inguinal hernia, Short femur, Anteverted nares, Metaphyseal spurs, D... OMIM:618188
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ... OMIM:272460
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis... ORPHA:83
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... OMIM:201000
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Narrow mouth, Deep philtrum, Thick lowe... OMIM:102370
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Frontal bossing, Small for gest... OMIM:612921
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Underdeve... OMIM:190351
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... OMIM:268305
Contractural Arachnodactyly, Congenital
Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion con... OMIM:121050
Smith-Mccort Dysplasia 2
Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Short statu... OMIM:615222
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis, Brachycephaly, Thickened calvaria ORPHA:178377
Cole-Carpenter Syndrome
Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric... ORPHA:2050
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Choanal st... OMIM:218600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Frontal bossing, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasi... ORPHA:163966
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Anteverted nares, Pierre-Robin sequence, Small hand, Wide nasal bri... OMIM:619980
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bridge, Ulnar bowing, Fem... OMIM:620076
Short Stature, Brussels Type
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of... ORPHA:2867
Omodysplasia 1
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Depress... OMIM:258315
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagioc... ORPHA:53271
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr... ORPHA:2107
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Atelosteogenesis, Type Ii
Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around... OMIM:256050
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Decreased body weight, Failure to thrive, Overlapping toe, Down-sloping... OMIM:617452
Pentasomy X
Short stature, Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, ... ORPHA:11
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolys... ORPHA:2776
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Brachycephaly, Short stature, Dia... OMIM:212066
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... OMIM:607078
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Frontal bossing, Joint laxity, Tented upper lip vermilion, 2-3 toe cutaneo... OMIM:615828
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama... OMIM:258860
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Recurrent fract... OMIM:614856
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Mandibular prognathia, Osteopenia, Frontal bossing, Single transverse palmar crease, Recurrent fr... ORPHA:2324
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Brachycephaly, Joint hyperf... ORPHA:1695
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Pes planus, Flat occiput, Abnormal dental ... ORPHA:10
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla... ORPHA:776
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Flat occiput, Re... OMIM:600081
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent... OMIM:258865
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of ... OMIM:179613
Summitt Syndrome
Finger syndactyly, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ridge, O... ORPHA:3210
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... OMIM:612447
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... OMIM:611717
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Depressed ... OMIM:619479
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Acrofrontofacionasal Dysostosis
Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brach... ORPHA:1784
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Frank-Ter Haar Syndrome
Osteopenia, Flat occiput, Micrognathia, Brachycephaly, High palate, Short palm, Short phalanx of ... OMIM:249420
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... ORPHA:1426
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... OMIM:617102
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... ORPHA:2614
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate, Dolichocepha... ORPHA:168624
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Mucopolysaccharidosis Type 4
Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Short stature, Cox... ORPHA:582
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif... OMIM:620269
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Everted upper lip vermilion, Short stature, Abnormality of the... OMIM:182290
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Craniosynostosis, Short st... ORPHA:808
Anauxetic Dysplasia 3
Short metacarpal, Severe short stature, Depressed nasal bridge, Joint hypermobility, Hip subluxat... OMIM:618853
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Acrofrontofacionasal Dysostosis 2
Syndactyly, Wide nose, Broad hallux, Short stature, Wide anterior fontanel, Brachycephaly, Hand p... OMIM:239710
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... ORPHA:73
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... OMIM:309350
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... OMIM:108120
48,Xxxy Syndrome
Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Abno... ORPHA:96263
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Abnorma... ORPHA:93262
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... OMIM:613573
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Brachycephaly... OMIM:616854
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Frontal bossing, Inguinal hernia, Arachnodactyly, Dental crowding, Narrow mouth, Br... OMIM:615539
49,Xxxxy Syndrome
Mandibular prognathia, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Depr... ORPHA:96264
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Tapered finger, Obesity, Wide nasal bridge, Brachycephaly, Downturned c... ORPHA:352530
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Flat occiput, Dental crowding, Convex nasal ridge, Micrognathia, Generalized joint la... ORPHA:251028
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... ORPHA:93384
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Overweight, Small hand... OMIM:619229
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Frontal bossing, Turricephaly, Short stature, Recurrent fractures,... OMIM:616294
Monosomy 5P
Microretrognathia, Finger syndactyly, Inguinal hernia, Short stature, Recurrent fractures, Small ... ORPHA:281
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Brachycephaly,... OMIM:610968
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Short p... OMIM:212720
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender long bone, De... OMIM:618265
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... ORPHA:1423
Al Kaissi Syndrome
Thin upper lip vermilion, Pes planus, Macrodontia, Depressed nasal bridge, Short stature, Broad n... OMIM:617694
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Narrow nasal bridge, Broad hallux, Depressed nasal bridge, Clinodactyly of the ... OMIM:620073
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Long philtrum, Joint laxi... ORPHA:391408
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H... ORPHA:3258
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Moderate postnatal growth retarda... OMIM:118650
Ck Syndrome
Dental crowding, Slender build, Prominent nasal bridge, Micrognathia, High palate, Malar flatteni... OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short stature, Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, ... OMIM:300261
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Micrognathia,... OMIM:215150
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rick... OMIM:613312
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Brachycephaly, Downturned corners of mouth, High palate, Wid... ORPHA:369891
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Craniosynostosis 2
Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... OMIM:604757
Metaphyseal Anadysplasia
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... ORPHA:1040
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Micrognathia,... ORPHA:576283
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Micrognathia, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High palate, Hernia, ... ORPHA:562528
2Q23.1 Microdeletion Syndrome
Tented upper lip vermilion, Sandal gap, Macrodontia, Short stature, Brachycephaly, Growth delay, ... ORPHA:228402
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Short stature, Micrognathia, Limitation of joint... ORPHA:2077
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnorma... ORPHA:3098
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Pes planus, Inguinal hernia, Depressed nasal bridge, Short stature, Sagittal craniosynostosis, Mi... ORPHA:459061
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Ivic Syndrome
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... OMIM:147750
Diastrophic Dysplasia
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... ORPHA:628
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Short stature, Wide anterio... OMIM:607812
Legg-Calvé-Perthes Disease
Cartilage destruction, Short stature, Abnormality of the dentition ORPHA:2380
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Preaxial polydactyl... OMIM:618142
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... OMIM:601680
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... ORPHA:1427
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Small for gestational age, Single transverse palmar crease, Cranio... OMIM:613174
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Knee dislocation, Shoul... OMIM:245600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndac... OMIM:614701
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Flat occiput, Small for gestational age, Depressed nasal bridge, Postnatal growth retardation, Co... ORPHA:319332
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ... OMIM:184840
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Frontal bossing, Wide nose, Iliac crest serration, Small for gestational age, Micromelia, Antever... OMIM:613320
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly OMIM:614416
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Thickened calvaria, Short metacarpal, Short fifth metatarsal, Increase... ORPHA:79443
Atelosteogenesis, Type Iii
Frontal bossing, Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tom... OMIM:108721
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop... ORPHA:1540
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... OMIM:608154
Specific Granule Deficiency 2
Osteopenia, Brachydactyly, Sandal gap, Conical tooth, Tooth malposition, Failure to thrive, Amelo... OMIM:617475
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Fron... ORPHA:2484
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Menkes Disease
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly... OMIM:309400
Gorlin-Chaudhry-Moss Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology,... ORPHA:2095
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... OMIM:309583
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Recurrent upper respir... ORPHA:508542
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Turricephaly, Severe short stature, Abnormal dental enamel morphology, Promine... ORPHA:1005
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... ORPHA:435638
Gorlin Syndrome
Mandibular prognathia, Frontal bossing, Vertebral fusion, Arachnodactyly, Palmar pits, Carious te... ORPHA:377
Qazi-Markouizos Syndrome
Prominent nasal bridge, Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossific... ORPHA:3010
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Broad hallux, Short stature, Shor... OMIM:165800
8Q12 Microduplication Syndrome
Narrow mouth, Wide nasal bridge, Brachycephaly, Short foot, Everted lower lip vermilion, Long phi... ORPHA:228399
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu... OMIM:277170
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Chromosome 20Q11-Q12 Deletion Syndrome
Frontal bossing, Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptoda... OMIM:614257
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Short philtrum, C... ORPHA:819
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... OMIM:210710
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Flat occiput, Re... OMIM:241530
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... ORPHA:85199
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... ORPHA:3103
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Broad nasal tip, 2-3 toe syndactyly, Brachycephaly, Growth delay, High palate, T... ORPHA:3306
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho... ORPHA:2635
Acrocephalopolydactyly
Genu recurvatum, Oxycephaly, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose... ORPHA:221054
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... OMIM:113000
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Rocker bottom f... OMIM:619762
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod... ORPHA:2980
Fibrochondrogenesis 2
Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short no... OMIM:614524
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... OMIM:164200
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, Brachyce... OMIM:601853
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... ORPHA:319195
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... OMIM:224400
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... ORPHA:2710
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... ORPHA:79444
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... OMIM:618727
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... ORPHA:794
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Sweeney-Cox Syndrome
Flat occiput, Micrognathia, Brachycephaly, High palate, Short philtrum, 2-5 toe syndactyly, Media... OMIM:617746
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, High pa... ORPHA:1225
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Micrognathia, Oral ulcer, Reduc... OMIM:617052
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Frontal bossing, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented u... OMIM:616723
Short Syndrome
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Abnormal... ORPHA:3163
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Metaphyseal cupping of proximal pha... OMIM:300863
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... OMIM:234100
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Wide nose, Frontal bossing, Short stature, Prominent nasal... ORPHA:50814
Laurence-Moon Syndrome
Finger syndactyly, Brachydactyly, Short stature, Obesity, Brachycephaly, Hand polydactyly, Bilate... ORPHA:2377
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Depressed nasa... OMIM:618430
Temtamy Syndrome
Pes planus, Frontal bossing, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth,... OMIM:218340
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Brachycephaly, Wi... OMIM:309545
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... OMIM:301041
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Three M Syndrome 1
Mandibular prognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Long philtrum, Scapu... OMIM:273750
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Abnormality of the hand, Prox... OMIM:609324
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... ORPHA:2916
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Palmoplantar keratoderma, Mit... ORPHA:79405
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... ORPHA:157965
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Brachycephaly, Growth delay, High palate, Narrow mouth, Retrognathia ORPHA:2528
Scarf Syndrome
Inguinal hernia, Craniosynostosis, Wide nasal base, Joint hyperflexibility, Short sternum, Long p... ORPHA:3134
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... OMIM:612916
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... ORPHA:2378
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... OMIM:101200
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Small for... OMIM:616229
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... OMIM:605274
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Short stature, Reduced bone mineral density, Delayed ... OMIM:618392
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Frontal bossing, Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Proportionate short stature, Short toe, Obesity, Cone-shaped ... OMIM:619269
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip,... OMIM:603671
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Flexion contracture, High palate, ... OMIM:248370
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Joint laxity, Inguinal hernia, Ulnar deviation of the wrist, Coxa valga, E... OMIM:253000
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... OMIM:226900
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Palmoplantar keratoderma, Mit... ORPHA:79406
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Anteverted nares, Brachycephaly, Long philtrum, Short nos... ORPHA:46
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... ORPHA:1856
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Brachydactyly Type E
Frontal bossing, Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the... ORPHA:93387
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe... ORPHA:94089
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept... OMIM:166220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Microg... ORPHA:404440
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Downtu... OMIM:156200
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Dental crowding, Short stature, Micromelia, Underdeveloped nas... OMIM:180870
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Short stature, Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar ... OMIM:268850
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ... ORPHA:560
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... OMIM:615398
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathia, Equinovarus deformi... ORPHA:1143
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Flat occiput, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Br... ORPHA:2707
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin... OMIM:126550
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Snijders Blok-Campeau Syndrome
Joint laxity, Frontal bossing, Inguinal hernia, Prominent nose, Abnormal foot morphology, Wide na... OMIM:618205
Ulbright-Hodes Syndrome
Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeroradial syn... ORPHA:3404
Weill-Marchesani Syndrome 1
Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short stature, Joint stiff... OMIM:277600
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Keipert Syndrome
Joint laxity, Wide nose, Midface retrusion, Broad hallux, Exaggerated cupid's bow, Prominent nose... OMIM:301026
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Craniosynostosi... ORPHA:254346
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Small for gestational age, Short stature, Fifth finger distal phalanx clinodacty... ORPHA:3369
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of... OMIM:610682
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 t... OMIM:614099
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar cre... OMIM:609128
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Prominent nose, Bro... OMIM:300280
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... OMIM:615777
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Pes planus, Osteopenia, Contracture of the proximal interphalangeal joint of the 2... OMIM:130060
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Broad hallux, Single transverse palmar crease, Small for gestational age, Microg... OMIM:614541
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... ORPHA:536467
Monosomy 18P
Short stature, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Brachycephaly, Downt... ORPHA:1598
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Aplasia/Hypop... ORPHA:2256
Ohdo Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Abnormal foo... OMIM:249620
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... OMIM:300990
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Retrognathia, Growth delay, Hip dysplasia, Intrauterine growth retardation... OMIM:614576
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdevelop... OMIM:277720
Cerebrocostomandibular Syndrome
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Inguinal hernia, Short stature, Prominent nose, Wide nasal bridge, Symphalangism... ORPHA:1292
Albers-Schönberg Osteopetrosis
Frontal bossing, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of the dentition,... ORPHA:53
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Palmoplantar ker... ORPHA:79402
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Parietal bossing, ... OMIM:264090
6Q25 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Wide nasal bridge, Clef... ORPHA:251056
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... OMIM:608940
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Tibial bowing, Ab... ORPHA:175
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Rothmund-Thomson Syndrome Type 2
Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Ge... ORPHA:221016
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M... OMIM:180849
Chromosome 2P16.1-P15 Deletion Syndrome
Thin upper lip vermilion, Arachnodactyly, Depressed nasal bridge, Short stature, Metatarsus adduc... OMIM:612513
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Wide mouth, Macroglossia, P... OMIM:616789
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... OMIM:182212
Naegeli-Franceschetti-Jadassohn Syndrome
Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma... ORPHA:69087
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br... OMIM:614188
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... ORPHA:1310
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... ORPHA:2909
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa valga, Flexion contrac... OMIM:617396
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Palmoplantar keratoderma, Mit... ORPHA:79411
Trisomy 20P
Micrognathia, Brachycephaly, Reduced bone mineral density, Downturned corners of mouth, Short phi... ORPHA:261318
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B... OMIM:619148
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ... OMIM:619995
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagioc... ORPHA:2163
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Severe short stature, Decreased body weight, Intrauterine gro... OMIM:618724
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... OMIM:101400
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Persistenc... OMIM:610253
Gómez-López-Hernández Syndrome
Turricephaly, Anteverted nares, Short stature, Brachycephaly, Thin vermilion border, Midface retr... ORPHA:1532
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... OMIM:134780
Rapp-Hodgkin Syndrome
Syndactyly, Depressed nasal bridge, Short stature, Conical tooth, Hypoplasia of the maxilla, Clef... OMIM:129400
Trichorhinophalangeal Syndrome Type 1
Frontal bossing, Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascula... ORPHA:77258
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu... OMIM:166200
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Short stature, Bifid nasal tip, Bilateral cleft lip and palate, High pa... OMIM:618874
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Frontal bossing, Micrognathia, Tapered finger, Narrow mouth, Obesity, Narrow palate, Hypoplasia o... OMIM:620250
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Brachycephaly, Genu valgum, Wide mouth, Posterior plagiocephaly, Growth delay, Joint... OMIM:617798
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Thin long bone diaphyses, Short stature, Recurrent fractures, Hip di... OMIM:616507
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... OMIM:112410
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Malar flatt... OMIM:109120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Micrognathia, Postnatal growth retardation, Short nose, B... OMIM:615419
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Trisomy 9P
Brachydactyly, Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, ... ORPHA:236
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot olig... OMIM:601357
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Micrognathia, Postnatal growt... OMIM:619135
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Sanjad-Sakati Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, A... ORPHA:2323
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Short stature, Abnormality of the dentit... ORPHA:1837
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Obesi... OMIM:157980
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morph... OMIM:274000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Single transverse palmar crease, Micromelia, Short stature,... OMIM:614800
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Short stature, Tapered finger, Abnormality of the dentition, Large ... ORPHA:261652
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Bardet-Biedl Syndrome 8
Brachycephaly, Obesity, Postaxial polydactyly OMIM:615985
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Short stature, Narrow nasal ridge, ... OMIM:219150
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... OMIM:311200
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... ORPHA:485
20Q11.2 Microduplication Syndrome
Inguinal hernia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Trigonocep... ORPHA:363659
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, 2-3... OMIM:300260
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichoce... OMIM:615433
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... OMIM:164900
Osteopetrosis, Autosomal Dominant 1
Thickened calvaria, Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morp... OMIM:607634
Ritscher-Schinzel Syndrome 4
Ulnar deviation of the hand, Short stature, Tapered finger, Narrow palm, Hip dislocation, Narrow ... OMIM:619435
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... OMIM:610759
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Abnormality of the elbow, Limitation of joint m... ORPHA:1486
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor... OMIM:174810
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, High, narrow palate, Brachycephaly, Knee flexion contracture, High p... OMIM:613776
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Missing ribs, Micrognathia, Brachycephaly, Cleft palate, Prom... OMIM:220210
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Abnormal hip bone morp... ORPHA:3236
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Short metacarp... ORPHA:221008
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
Achard Syndrome
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly OMIM:100700
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Brachycephaly, Downturned cor... OMIM:611961
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capita... OMIM:304150
17Q11.2 Microduplication Syndrome
Short stature, Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Malar flatte... ORPHA:139474
9P13 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Short stature, Joint stiffness, Abnormality of cartilage of ... ORPHA:324313
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Wide nose, Depressed nasal bridge, Short stature, Bulbous nose, Thick lower lip ver... OMIM:610442
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly, Intra... ORPHA:272
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhizomelia,... OMIM:611209
Scarf Syndrome
Inguinal hernia, Prominent nasal bridge, Wide nasal bridge, Coronal craniosynostosis, Short stern... OMIM:312830
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Short stature,... OMIM:269300
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... OMIM:215140
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metac... OMIM:608328
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo... OMIM:268400
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Cli... ORPHA:2108
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral ... OMIM:227330
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... OMIM:609616
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot, Downturn... ORPHA:254525
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, na... OMIM:607597
Silver-Russell Syndrome Due To 11P15 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, ... OMIM:268300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala... ORPHA:254531
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Frontal bossing, Tented upper lip vermilion, Dental crowding, Rocker bot... OMIM:612582
Cockayne Syndrome A
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... OMIM:216400
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplant... OMIM:226670
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... OMIM:618961
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Achilles tendon contracture, Abnormality of th... ORPHA:178382
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Abnorm... ORPHA:95699
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... ORPHA:289176
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... ORPHA:217017
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Wide mouth, Long philtru... OMIM:608776
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Frontal bossing, Anteverted nares, Down-sloping shoulders, Prominent nasal bri... ORPHA:1974
Keutel Syndrome
Wide nose, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Recurrent sinusitis,... ORPHA:85202
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Clinodactyly of the ... OMIM:618828
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Sh... OMIM:618150
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Thickened calvaria, Downturned corners of mouth, Hypoplastic vertebral bodies, Short ... ORPHA:3455
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p... OMIM:619127
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... ORPHA:2639
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Pursed lips, Inguinal hernia, Anteverted nares, Micrognathia, ... OMIM:616266
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased... OMIM:614592
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... ORPHA:2962
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Larsen Syndrome
Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical vertebrae, Joint l... OMIM:150250
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Convex nasal ridge, Short stature, Micrognathia, Carious teeth, Promine... OMIM:613684
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Inguinal hernia, Short stature, Frontal open bite, Micrognathia, Postna... OMIM:225410
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Sandal gap, Dental crowding, Anteverted n... OMIM:617877
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturn... OMIM:618371
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif... OMIM:615582
Fibrous Dysplasia Of Bone
Abnormal occipital bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa va... ORPHA:249
Pycnodysostosis
Frontal bossing, Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, ... OMIM:265800
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... OMIM:616331
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Brach... ORPHA:93950
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Brachycephaly, Bifid uvula, Joint laxity, Depressed nasal bridge, Short stature, ... OMIM:300968
Stickler Syndrome, Type Ii
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers, High, narro... OMIM:604841
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine... ORPHA:828
Down Syndrome
Joint laxity, Brachydactyly, Sandal gap, Depressed nasal bridge, Protruding tongue, Abnormality o... ORPHA:870
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ... ORPHA:2063
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of fing... OMIM:132450
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth ... OMIM:272440
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Carious teeth, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypop... ORPHA:363523
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia... OMIM:614813
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solitary median maxi... ORPHA:66625
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Bilateral s... ORPHA:353298
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ca... OMIM:277590
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Abnormal nasopharynx morphology, Depressed nasal bridge, M... OMIM:157900
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... OMIM:114290
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Tented upper lip vermilion, Micrognathia, Knee flexion contracture, Short philtrum, Arachnodactyl... ORPHA:371364
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Prominent nasal bridge, Micrognathia, Bulbous ... ORPHA:247262
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Tapered finger, Obesity, Plagiocephaly, Clinodactyly of the 5th finger OMIM:618725
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Alagille Syndrome
Hypoplasia of the ulna, Failure to thrive, Frontal bossing, Micrognathia, Long nose, Brachycephal... ORPHA:52
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Knee dislocation, High ... OMIM:620083
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... ORPHA:93356
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme... OMIM:615065
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno... ORPHA:93316
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t... ORPHA:666
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay, Short phalanx of finger, Talipes equinovarus OMIM:222748
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,... ORPHA:371428
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Micrognathia, Sho... ORPHA:96184
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Overlapping toe, Broad hallux, Convex nasal ridge, Micrognathia, Short stature, Genu valgum, Seve... ORPHA:293967
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, High pa... OMIM:300232
Warburg Micro Syndrome 3
Micrognathia, Postnatal growth retardation, Flexion contracture, Brachycephaly, Narrow palate, Do... OMIM:614222
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Joint laxity, Bro... OMIM:304110
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Glass Syndrome
Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Long nose, Oligodontia, Hig... OMIM:612313
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Cerebrooculonasal Syndrome
Frontal bossing, Anteverted nares, Prominent nasal bridge, Postaxial polydactyly, Craniosynostosi... OMIM:605627
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Flexion contracture, Brachyceph... OMIM:620240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Silver-Russell Syndrome 3
Syndactyly, Frontal bossing, Small for gestational age, Elbow contracture, Short stature, Postnat... OMIM:616489
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finge... ORPHA:79445
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum,... ORPHA:314795
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Short stature, Generalized joint laxity, Patellar hypoplasia, Short femoral... OMIM:609325
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Wide nasal bridge, Cleft... OMIM:201180
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Thic... OMIM:602152
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Short stat... ORPHA:73272
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Equinovarus deformity,... ORPHA:3078
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Genu v... OMIM:271510
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Duplicati... OMIM:180750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Short stature, Joint stiffness ORPHA:2871
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Coffin-Siris Syndrome 6
Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Broad nasal tip, High, narr... OMIM:617808
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... ORPHA:33364
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... OMIM:300554
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Metaphyseal widening, Irregul... OMIM:612813
Cog7-Cdg
Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth retardation, Long fi... ORPHA:79333
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Alg9-Cdg
Micrognathia, Brachycephaly, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvul... ORPHA:79328
2P15P16.1 Microdeletion Syndrome
Brachycephaly, High palate, Bilateral single transverse palmar creases, Tapered finger, Wide nasa... ORPHA:261349
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Downturned c... OMIM:616364
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Bra... OMIM:263520
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Short stature, Joint hypermobility, Postnatal growth retardation, Cleft... OMIM:619504
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Thin upper lip vermilion, Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip di... ORPHA:456312
Silver-Russell Syndrome
Sandal gap, Dental crowding, Cachexia, Micrognathia, Failure to thrive in infancy, Lower limb asy... ORPHA:813
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... OMIM:166210
Acromesomelic Dysplasia 1
Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypo... OMIM:602875
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton... OMIM:613091
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... ORPHA:3035
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Steel Syndrome
Carpal synostosis, Pes planus, Anteverted nares, Short stature, Hip dislocation, Wide nasal bridg... OMIM:615155
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Short stature, Recurrent fractures, Micrognathia, Reduced bone miner... OMIM:112240
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... ORPHA:2673
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Joint stiffness, Wide nasa... ORPHA:2062
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Dolic... ORPHA:357001
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypopl... ORPHA:96149
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly ORPHA:1276
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb OMIM:314390
Acromelic Frontonasal Dysplasia
Median cleft lip, Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Brach... ORPHA:1827
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation,... OMIM:618395
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... OMIM:620193
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Cohen Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Sh... OMIM:216550
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Brachycephaly, Short stature OMIM:300699
Congenital Disorder Of Glycosylation, Type Iit
Tented upper lip vermilion, Sandal gap, Prominent nasal bridge, Short stature, Small hand, Brachy... OMIM:618885
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Marshall-Smith Syndrome
Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis,... ORPHA:561
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Growth delay, Atrophic scars, Pa... ORPHA:79410
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... OMIM:114300
Lig4 Syndrome
Micrognathia, Wide nasal bridge, Brachycephaly, Growth delay, Thin vermilion border, Biparietal n... ORPHA:99812
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Small hand, Wide nasal bridge, Wide mouth, Broad finger, Long philtrum,... OMIM:614684
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... OMIM:605130
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Sandal gap, Short stature, Tapered finger, Cleft lip, Narrow mouth, Small hand, Obesi... OMIM:618089
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Abnormal toe morphol... OMIM:163200
Aplasia Cutis Congenita
Finger syndactyly, Calvarial skull defect, Toe syndactyly, Abnormality of bone mineral density ORPHA:1114
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Short stature OMIM:270200
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Cleft palate, Short... OMIM:603116
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Absent pubertal growth spurt, Hypoplasia of the odontoid pro... OMIM:250250
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosy... ORPHA:369837
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Brachycephaly, High palate, Intrauterine growth retardation... ORPHA:1913
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Narrow ... ORPHA:207
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly, Depressed nasal bridge, Wide nasal bridge OMIM:264470
Pontocerebellar Hypoplasia, Type 3
Depressed nasal bridge, Short stature, High, narrow palate, Brachycephaly, Downturned corners of ... OMIM:608027
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Wide nasal bridge, Shor... OMIM:224410
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Depressed nasal ... ORPHA:1812
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Prominent nose, Wide anterior fontanel, Scaphocephal... OMIM:614886
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular sh... ORPHA:73230
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Flexion contracture, Brach... OMIM:614225
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Midface retrusion, Femur fracture, Short stature, Delayed er... OMIM:619322
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Thin upper lip vermilion, Frontal bossing, Small for gestational age, S... ORPHA:231137
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... OMIM:122470
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the... ORPHA:313855
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of... ORPHA:861
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Palmoplantar keratoderma, Mit... ORPHA:79409
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno... ORPHA:2092
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depress... ORPHA:2021
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... ORPHA:1159
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... OMIM:618529
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Laron Syndrome
Limb undergrowth, Short long bone, Severe short stature, Delayed menarche OMIM:262500
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... ORPHA:508488
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short philtrum, Depre... OMIM:309590
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Anteverted nares, Single transverse palmar crease, Rocker bottom foo... OMIM:214100
Acromesomelic Dysplasia 4
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... OMIM:619636
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Long palm, Single transverse palmar crease,... OMIM:244450
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Tapered f... OMIM:601088
Lig4 Syndrome
Plantar warts, Small for gestational age, Prominent nose, Wide nasal bridge, Brachycephaly, Clino... OMIM:606593
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... OMIM:130070
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Focal Dermal Hypoplasia
Congenital hip dislocation, Cleft ala nasi, Congenital diaphragmatic hernia, Osteopathia striata,... OMIM:305600
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b... ORPHA:140
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Enlarged interphalangeal joints, Proximal placement of thumb, Plantar edema, Abnormality of the e... ORPHA:2988
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to... OMIM:609625
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Postnata... OMIM:309000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachyc... ORPHA:1236
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Brachycephal... OMIM:606851
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... OMIM:182250
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Micrognathia... OMIM:619777
Thanatophoric Dysplasia, Type I
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy... OMIM:187600
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depresse... OMIM:618774
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Roifman Syndrome
Hip contracture, Short metacarpal, Thin upper lip vermilion, Anteverted nares, Single transverse ... OMIM:616651
Intellectual Developmental Disorder, Autosomal Recessive 38
Mandibular prognathia, Plagiocephaly, Sandal gap, Narrow palate OMIM:615516
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Cutaneous finger syndactyly, Hig... OMIM:211380
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Anteverted nares, Depressed nasal bridge, Metaphyseal chondrodysplasia, Enlargement of the wrists... ORPHA:83629
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... OMIM:619638
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Convex nasal ridge, Patchy ost... OMIM:241410
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor... ORPHA:2636
Kbg Syndrome
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c... OMIM:148050
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... ORPHA:1525
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Osteopenia, Joint laxity, Depressed nasal bridge, Craniosynostosis, Joint ... ORPHA:309282
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli... OMIM:608747
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Inguinal herni... OMIM:612940
Arthrogryposis And Ectodermal Dysplasia
Short stature, Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft... OMIM:601701
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Short stature, Brachycephaly ORPHA:1173
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosi... ORPHA:314575
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, 2... OMIM:269500
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly OMIM:619751
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... ORPHA:521445
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Flexion contracture, Orofacial cleft, Growth delay, Polydactyly, Fail... ORPHA:17
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... OMIM:601353
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa v... OMIM:614976
Beck-Fahrner Syndrome
Pes planus, Brachycephaly, Hip dysplasia, High palate, Long philtrum, Open mouth, Joint hypermobi... OMIM:618798
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... OMIM:619720
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Conical ... ORPHA:228390
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Short stature, Micrognathia, Diastema, Broad nasal tip, Brachycephaly,... OMIM:609757
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... ORPHA:1788
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short stature, Brachycep... OMIM:619859
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Short stature, Coxa ... OMIM:619833
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi... OMIM:200600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the... OMIM:266920
Cockayne Syndrome B
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:133540
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Bi... OMIM:618268
Adnp Syndrome
Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ... ORPHA:404448
Temple Syndrome
Frontal bossing, Small for gestational age, Short stature, Postnatal growth retardation, Small ha... ORPHA:254516
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... OMIM:119800
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Flexion contracture, Small hand, Brachycephaly, Short foot, Plagioceph... ORPHA:500055
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Depressed nasal bridge, Thin lower lip vermilion, Short metatarsal,... OMIM:613328
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Depr... ORPHA:1272
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Short stat... OMIM:614091
Tetrasomy 5P
Pericallosal lipoma, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Postnatal gro... ORPHA:3309
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem... OMIM:619142
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Deep philtrum, Anteverted nares, Brachycephaly OMIM:618859
Costello Syndrome
Failure to thrive in infancy, Abnormal dental enamel morphology, Depressed nasal bridge, Abnormal... ORPHA:3071
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Widened atrophic scar, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder di... ORPHA:536532
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Short philtrum, Clinodacty... ORPHA:1449
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse... OMIM:615656
Branchioskeletogenital Syndrome
Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly, Downturned... ORPHA:1299
X-Linked Intellectual Disability, Snyder Type
Long toe, Mandibular prognathia, Arachnodactyly, Dental crowding, Anteverted nares, Prominent nas... ORPHA:3063
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Prominent nasal bridge, Abno... ORPHA:96169
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Short stature, Micrognathia, Underdeveloped nasal alae, Brachy... ORPHA:264200
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Recurrent aphtho... OMIM:212750
Corneodermatoosseous Syndrome
Severe short stature, Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, ... ORPHA:3194
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Pes planus, Joint laxity, Slender build, Genu recurvatum, Short stature, B... ORPHA:364028
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Short palm, Broad palm, Short foot, Plagiocephaly, Broad foot OMIM:614563
Proteus Syndrome
Thin bony cortex, Depressed nasal bridge, Facial hyperostosis, Multiple lipomas, Calvarial hypero... OMIM:176920
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Hernia, Joint laxity, Depressed nas... ORPHA:94065
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Obesit... OMIM:250420
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... OMIM:300009
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous... ORPHA:1787
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f... OMIM:601957
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Long fingers, Brachycephaly, Cleft palate, High palate, Nar... OMIM:156610
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Ab... ORPHA:96097
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Cockayne Syndrome Type 2
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Intraute... ORPHA:90322
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Clef... OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Pes cavus, Wide nose, Sandal gap, Broad hallux, Dental crowding, Fronta... OMIM:616078
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Inguinal hernia, Thin upper lip vermilion, Short stature, Metatarsus adduct... OMIM:611962
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short metatarsal, Brachycephaly, High palate, Short metacarpal, Anteverted nares... OMIM:617157
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Stimmler Syndrome
Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology ORPHA:3199
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger OMIM:619910
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Tented upper lip vermilion, Talipes equinovarus, Long philtrum OMIM:619972
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Single transverse palmar crease, Epistaxis, Bulbous nose, Patellar aplasia, Tented phi... ORPHA:495818
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Xylt1-Cdg
Joint laxity, Pes planus, Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth dela... ORPHA:370930
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion OMIM:612247
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Micrognathia, Sho... OMIM:257300
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturned corners of mouth, W... ORPHA:79500
Distal Deletion 3P
Inguinal hernia, Anteverted nares, Short stature, Micrognathia, Postaxial hand polydactyly, Brach... ORPHA:1620
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporefle... OMIM:162370
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis OMIM:618736
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypoplastic coccy... OMIM:619512
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Short stature, Tapered finger, Short... OMIM:616728
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Short stature, Micrognathia, Abno... ORPHA:85276
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ... OMIM:617866
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Short stature, Proximal placement of... OMIM:616263
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Anteverted... OMIM:252500
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Intellectual Developmental Disorder, Autosomal Dominant 64
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid... OMIM:619188
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn... ORPHA:96121
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Hernia, Spina bifi... OMIM:193700
Cutis Laxa, Autosomal Recessive, Type Iia
Pes planus, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Frontal... OMIM:219200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic i... OMIM:617895
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... ORPHA:2215
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Prominent nose, Brachycephaly, Abnormal periodontium morp... ORPHA:480880
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... ORPHA:2363
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Frontal bossing, Scaphocephaly, Dental malocclusion, Wide nasal bridge,... OMIM:619149
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Dental malocclusion, Wide nasal bridge,... ORPHA:73223
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... ORPHA:508533
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Limb joint contracture, Short stature, Tapered finger, Flexion contrac... OMIM:301072
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Oral mucosal blisters, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Narro... OMIM:226600
Phocomelia, Schinzel Type
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi... ORPHA:2879
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... OMIM:113300
Monosomy 9P
Congenital diaphragmatic hernia, Proximal placement of thumb, Micrognathia, Brachycephaly, High p... ORPHA:261112
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ... ORPHA:453510
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus... ORPHA:2557
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... ORPHA:239
Acrofacial Dysostosis, Cincinnati Type
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bo... OMIM:616462
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal ... ORPHA:2319
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Inguinal hernia, Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Fail... OMIM:618603
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia OMIM:616029
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Brachycephaly, Short stature ORPHA:320385
Short Syndrome
Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Joint laxity, Absence of subcutane... OMIM:269880
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... OMIM:615066
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Thick nasal alae, Anteverted n... ORPHA:2067
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... ORPHA:93352
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Failure to thrive, Anteverted nares, Short stature, Cleft upper lip, Po... OMIM:243310
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... ORPHA:1422
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost... OMIM:613451
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... ORPHA:3206
9Q21.13 Microdeletion Syndrome
Talipes, Craniosynostosis, Wide nasal ridge, Postnatal growth retardation, Abnormal tongue morpho... ORPHA:531151
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe... ORPHA:245
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... ORPHA:2249
Brittle Cornea Syndrome 1
Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Palmoplantar cutis laxa, Den... OMIM:229200
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Plagiocephaly,... OMIM:616362
Xq28 (MECP2) duplication
Depressed nasal bridge, Brachycephaly, Narrow mouth, Malar flattening, Failure to thrive DECIPHER:45
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Craniosynosto... ORPHA:457193
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Oligodontia, Microdontia... OMIM:612289
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Anteverted nares,... OMIM:616894
Desanto-Shinawi Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Brachycephaly, Downturned corners... OMIM:616708
Opsismodysplasia
Frontal bossing, Short metacarpal, Rhizomelia, Anteverted nares, Depressed nasal bridge, Hypoplas... OMIM:258480
Chromosome 5Q12 Deletion Syndrome
Long toe, Frontal bossing, Micrognathia, Prominent nose, Long fingers, Postnatal growth retardati... OMIM:615668
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn... ORPHA:1865
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho... OMIM:143095
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dental crowding, Brachycephaly, Short stature OMIM:615031
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Femor... OMIM:609220
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pe... ORPHA:534
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint... ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ... OMIM:300958
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Micrognathia, Abnormalit... ORPHA:1794
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Brachycepha... OMIM:612474
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Inguinal hernia, Frontal bossing, Small for gestational age, Micrognathia, Postnatal ... ORPHA:397590
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... ORPHA:1307
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... OMIM:200980
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Joi... OMIM:231050
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Joint laxity, Midface retrusion, Rhizomelia, Absent nasal bridge, Mesomeli... ORPHA:171866
Kilquist Syndrome
Mandibular prognathia, Choanal atresia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide... OMIM:619080
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ... ORPHA:93315
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Holzgreve Syndrome
Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morpholog... ORPHA:2167
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft palate, Short... OMIM:614749
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Severe short stature, Abnormal dental morphology, Delayed er... ORPHA:191
Primrose Syndrome
Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexion contracture, Downturn... OMIM:259050
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ... OMIM:300963
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spa... OMIM:280000
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Cornelia De Lange Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, Congenital diaphragmatic hernia, Brachycep... ORPHA:199
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
3Mc Syndrome 1
Omphalocele, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Pos... OMIM:257920
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... ORPHA:90321
Noonan Syndrome 13
U-Shaped upper lip vermilion, Pes planus, Joint laxity, Overlapping toe, Anteverted nares, Tapere... OMIM:619087
Humeroradial Synostosis
Brachycephaly, Humeroradial synostosis, Wide nasal bridge OMIM:236400
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Malan Overgrowth Syndrome
Frontal bossing, Depressed nasal bridge, Scaphocephaly, Plagiocephaly, Slender long bone, High pa... ORPHA:420179
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Severe short stature,... OMIM:231070
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... OMIM:123500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger OMIM:618367
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Cr... OMIM:265050
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrophic scars, Palmoplantar ker... ORPHA:79396
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Bro... OMIM:300845
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Faciocardiomelic Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, De... OMIM:612731
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Short stature, Brachycephaly OMIM:309541
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Palmoplantar keratoderma OMIM:612843
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Inguinal hernia, Sandal gap, Recurrent shoulder dislocation, Dental cr... ORPHA:230851
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... OMIM:184253
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo... ORPHA:2588
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom... OMIM:305450
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Depressed nasal bridge, Rocker bottom foot, Congenital diaphragmatic hernia, M... ORPHA:363528
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stip... OMIM:302960
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormality of the fascia, Thic... ORPHA:85438
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pes planus, Turricephaly, Broad hallux, Anteverted nares, Depressed nasal bridge, Tapered finger,... OMIM:620224
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone... ORPHA:79324
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal foot morphology... OMIM:617822
Lethal Congenital Contracture Syndrome 10
Omphalocele, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bo... OMIM:617022
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... OMIM:619297
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... OMIM:619950
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... OMIM:617604
Marden-Walker Syndrome
Inguinal hernia, Arachnodactyly, Anteverted nares, Micrognathia, Postnatal growth retardation, Wi... OMIM:248700
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Joint stiffness ORPHA:816
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia OMIM:211900
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce... ORPHA:1790
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly OMIM:615633
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Short stature, Abnormality of the dentition, Wide mouth, Enamel hypoplasi... OMIM:615802
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, 2-3 toe syndactyly, Plagioc... OMIM:261990
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Failure to t... ORPHA:261323
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... OMIM:276820
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... OMIM:610797
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Flat occiput,... OMIM:619383
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Bulbous nose, Bra... OMIM:618644
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Chromosome 19Q13.11 Deletion Syndrome, Distal
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve... OMIM:613026
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Depressed nasal... ORPHA:2211
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Prominent nasal bridge, Short stature, Joint hy... OMIM:617360
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, P... OMIM:135900
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Small for gestational age, Sing... OMIM:123450
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... OMIM:616580
Gm1 Gangliosidosis Type 1
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic verteb... ORPHA:79255
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T... OMIM:612651
Blomstrand Lethal Chondrodysplasia
Micrognathia, Neonatal short-limb short stature, Distal shortening of limbs, Short metacarpal, In... ORPHA:50945
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Failure to thrive, Single transverse palmar... OMIM:607932
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Osteoporo... ORPHA:79404
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Short stature, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the den... ORPHA:3220
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the... OMIM:615630
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... OMIM:139210
Craniotubular Dysplasia, Ikegawa Type
Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Anteverte... OMIM:619727
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Orofacial c... ORPHA:1519
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Kindler Epidermolysis Bullosa
Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal dental enamel morphology, Prem... ORPHA:2908
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Talipes calcaneovalgu... ORPHA:818
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Talipes equinovarus OMIM:618845
Satoyoshi Syndrome
Pes planus, Short metacarpal, Short stature, Short metatarsal, Osteolytic defects of the phalange... OMIM:600705
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Meier-Gorlin Syndrome 6
Microretrognathia, Frontal bossing, Severe short stature, Sandal gap, Small for gestational age, ... OMIM:616835
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Pes planus, Inguinal hernia, Genu recurvatum, Calcaneovalgus deformity, Atrophic scars OMIM:225320
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Short stature, Brachycephaly, Abnormal shape of the occiput, Malar flattening, B... OMIM:218350
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... ORPHA:85167
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... OMIM:602557
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Hartsfield Syndrome
Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Growth ... OMIM:615465
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Congenital Disorder Of Deglycosylation 1
Anteverted nares, Single transverse palmar crease, Small hand, Osteoporosis, Intrinsic hand muscl... OMIM:615273
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Anteverted nares, Prominent nasal bridge, Tracheobronchomalacia, Plagiocephaly, Sho... ORPHA:500159
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... OMIM:601803
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Frontal bossing, Inguinal hernia, Flat occiput, Depressed nasal ridge, Gin... OMIM:248500
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Thick nasal alae, Proportionate short stature, Broad nasal tip, H... ORPHA:79345
Paternal Uniparental Disomy Of Chromosome 5
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Posterior plagiocephaly, Short ... ORPHA:96190
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Severe short stature, Rhizomelia, Depressed nasal bridge, Wide anterior fontanel... OMIM:616482
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Inguinal hernia, Brachycephaly, Wide mouth, Growth delay, Thick vermilion ... ORPHA:85290
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Frontal bossing, Midface retrusion, Abnormal fingertip morphology ORPHA:529965
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Obesity, Absent Achilles reflex, Hyporeflexia of upper limb... ORPHA:93952
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin sequence, Hip dislocatio... OMIM:183900
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Short stature, Narrow mouth, Flexion contracture, Brach... OMIM:615663
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... ORPHA:306542
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Preaxial polydactyly, F... OMIM:615503
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... OMIM:601216
Xfe Progeroid Syndrome
Severe short stature, Convex nasal ridge, Cachexia, Absence of subcutaneous fat, Corneal scarring... OMIM:610965
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... ORPHA:235
Carey-Fineman-Ziter Syndrome 1
Failure to thrive, Anteverted nares, Depressed nasal bridge, Micrognathia, Tapered finger, Trismu... OMIM:254940
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Postnatal growth reta... ORPHA:263508
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retarda... OMIM:300867
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underde... OMIM:619005
Fanconi Anemia, Complementation Group W
Absent thumb, Hypoplasia of the radius, Growth delay, Abnormal radial ray morphology, Intrauterin... OMIM:617784
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Down Syndrome
Joint laxity, Sandal gap, Single transverse palmar crease, Short stature, Protruding tongue, Hypo... OMIM:190685
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Short stature, Coxa valga, Flexion contracture, Short metatarsal, C... OMIM:248800
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Abnormal denta... ORPHA:1896
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Broad nasal tip, Submucous clef... OMIM:619680
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Aplasia/Hypopla... ORPHA:1521
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Short stature, Micrognathia, Narrow... OMIM:309500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Brachycephaly ORPHA:70472
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... ORPHA:79408
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 ... ORPHA:522077
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Thin upper lip vermilion, Short stature, Brachycephaly, Plagiocephaly, High palate OMIM:618862
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
3Mc Syndrome
Craniosynostosis, Abnormal nasal morphology, Postnatal growth retardation, Hip dislocation, Limit... ORPHA:293843
Aspartylglucosaminuria
Mandibular prognathia, Pes planus, Inguinal hernia, Abnormal morphology of ulna, Abnormality of t... ORPHA:93
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Co... OMIM:263750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Failure to thrive, Overlapping toe, Arachnodactyly, Single transverse palmar cre... ORPHA:83617
Distal Deletion 15Q
Flat occiput, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, 2-3... ORPHA:1596
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Obesity, Brach... OMIM:105830
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Wide anter... ORPHA:457279
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Brachycephaly, Femoral bowing, Choanal stenosis, Cloverleaf skull, Arachnodactyly, Depressed nasa... OMIM:201750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Brachycephaly, Posterior plagiocephaly, High palate, Bifid uvula, Long phi... OMIM:620330
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
7Q31 Microdeletion Syndrome
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth retardation, Clinod... ORPHA:251061
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hypoplastic iliac wing, Postnatal growth retardation, Limitation of joint mobility, Disproportion... OMIM:313400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Clinodactyly of ... ORPHA:96182
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Antevert... OMIM:301040
Proteus Syndrome
Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of the wrist, Thick nasal... ORPHA:744
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Short stature, Brachydactyly OMIM:613819
Tarp Syndrome
Failure to thrive, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Single transverse... OMIM:311900
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... ORPHA:3130
Rauch-Steindl Syndrome
Depressed nasal bridge, Short stature, Micrognathia, Prominent crus of helix, Postnatal growth re... OMIM:619695
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures, Obesity,... ORPHA:251004
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Short stature, Recurrent fractures, Persistence of primary teeth, Micrognathia... ORPHA:2785
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Thin upper lip vermilion, Osteopenia, Flat occiput, Anteverted nares, Broad na... OMIM:300966
22Q11.2 Deletion Syndrome
Micrognathia, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Short stature, O... ORPHA:567
Kid Syndrome
Angular cheilitis, Lip fissure, Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Abnorm... ORPHA:477
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Keutel Syndrome
Calcification of the auricular cartilage, Sinusitis, Cartilaginous ossification of nose, Short ha... OMIM:245150
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Flat occiput, Femoral hernia, Anteverted nares, Protruding tongue, Obesity, Brac... ORPHA:96147
Peters Plus Syndrome
Micromelia, Micrognathia, Brachycephaly, Widely spaced teeth, Clinodactyly of the 5th finger, Spi... ORPHA:709
Bresek Syndrome
Postaxial hand polydactyly, Cleft palate, Plagiocephaly, Growth delay, Intrauterine growth retard... ORPHA:85284
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Tapered finger, Wide nas... OMIM:613603
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Small hand, Osteoporosis, Clubbing of toes, Osteolys... ORPHA:2796
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Narrow mouth, Complete dupli... ORPHA:59315
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatosis of radius, Abnormal... ORPHA:99646
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Short stature, Broad nasal tip, Cleft lip, Brachycephaly, Narrow palate, ... OMIM:618223
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Short stature, Bilateral camp... OMIM:619557
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... ORPHA:1652
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, B... OMIM:618797
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge... OMIM:607872
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Scarring, Hiatus herni... OMIM:601776
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Flat occiput, Micrognathia, Metatarsus adductus, Postnatal growth retardation, Smal... ORPHA:300570
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... OMIM:208500
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Pes planus, Frontal bossing, Depressed nasal bridge, Micrognathia, Post... OMIM:620029
Congenital Myopathy 13
Short stature, Micrognathia, Flexion contracture, Brachycephaly, Cleft palate, Downturned corners... OMIM:255995
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Ankle clonus, Prominent calcaneus, Open mouth, Intrauterine growth ... ORPHA:565624
White-Sutton Syndrome
Ventral hernia, Thin upper lip vermilion, Inguinal hernia, Joint laxity, Depressed nasal bridge, ... ORPHA:468678
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... ORPHA:1946
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Anteverted ... ORPHA:97360
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtr... ORPHA:2896
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Single transverse palmar c... ORPHA:254528
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Brachycephaly, Wide mouth, Growth delay, Long philtru... OMIM:103050
Frontonasal Dysplasia 3
Brachycephaly, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Marfan Syndrome
Dental crowding, Genu recurvatum, Equinus calcaneus, Micrognathia, Incisional hernia, Flexion con... OMIM:154700
Cranioectodermal Dysplasia 2
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl... OMIM:613610
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... ORPHA:233
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Depressed nasal bridge, Brachycephaly OMIM:612379
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies... OMIM:230600
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Short toe, Short ribs, Bow... OMIM:269860
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... OMIM:612199
1P36 Deletion Syndrome
11 pairs of ribs, Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Short stature... ORPHA:1606
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Brachycephal... OMIM:608688
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Short s... ORPHA:2834
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Duplication Of The Pituitary Gland
Short stature, Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cle... ORPHA:314621
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Po... OMIM:619841
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... OMIM:261540
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Talipes, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate... ORPHA:453499
Yunis-Varon Syndrome
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Micrognathia, Short me... OMIM:216340
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Her... OMIM:616603
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... ORPHA:352540
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap... OMIM:614900
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Choanal ste... ORPHA:798
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia... ORPHA:319182
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Frontal bossing, Anteverted nares, Depressed nasal bri... ORPHA:254519
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad... ORPHA:363958
Galloway-Mowat Syndrome 4
Plagiocephaly, Short stature, Tapered finger OMIM:617730
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Depressed nasal bridge, Proportionate short stature, Micrognathia, Wide nasal br... OMIM:613457
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypo... ORPHA:3015
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth,... ORPHA:2728
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intrauterine growth retardation, Enamel hypoplasia OMIM:243150
Tetrasomy 9P
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac... ORPHA:3310
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Depressed nasal bridge, Short stature, Craniosynostosis, Limite... ORPHA:576
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Frontal bossing, Aplastic clavicle, Hiatus hernia, Abnormality... ORPHA:2538
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Osteopenia, Mild postnatal growth retardation, Single transverse palmar cr... OMIM:150230
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Multiple enchondromatosis, Hammertoe, Lipoma, Pes cavus, Midface retrusion OMIM:620189
Bloom Syndrome
Syndactyly, Small for gestational age, Prominent nose, Postnatal growth retardation, Recurrent up... OMIM:210900
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Enamel hypoplasia OMIM:607626
Fanconi Anemia, Complementation Group P
Short stature, Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius, G... OMIM:613951
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Micrognathia, Fractures of the long bones, Plagiocephaly, Growth dela... ORPHA:496641
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Dolichocephaly, Hypoplasia of th... ORPHA:1101
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... ORPHA:487796
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Gapo Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ... OMIM:230740
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cl... OMIM:229400
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Hernia, Short... ORPHA:1394
Moderate Hemophilia A
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin... ORPHA:169805
Arboleda-Tham Syndrome
Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia... OMIM:616268
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Brachycephaly, High palate,... OMIM:619244
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... OMIM:263650
Spondyloocular Syndrome
Long toe, Pes planus, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of... OMIM:605822
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... OMIM:617137
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Frontal bossing, Inguinal hernia, Abnormal pelvis bone morphology, Severe short stat... ORPHA:2273
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Brachycephaly OMIM:616083
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology ORPHA:59303
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Bone cyst, Osteolysis, M... ORPHA:2396
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ... OMIM:105650
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Osteopetrosis, Autosomal Recessive 7
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Dental crowding, Brachycephaly, Obesity, Plagiocephaly, Short philtrum OMIM:617296
Autosomal Recessive Primary Microcephaly
Growth delay, Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature ORPHA:2512
Noonan Syndrome With Multiple Lentigines
Scapular winging, Short stature, Brachycephaly, Wide nasal bridge, Growth delay, Intrauterine gro... ORPHA:500
Heimler Syndrome 2
Pes planus, Dental crowding, Amelogenesis imperfecta OMIM:616617
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Micrognathia, High, narrow palate, O... ORPHA:75857
Tibial Hemimelia
Absent tibia OMIM:275220
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Short stature, Flexion contracture, Bo... ORPHA:3042
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Short stature, Postaxial polydactyly, Accessory oral fr... OMIM:617088
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Williams Syndrome
Osteopenia, Micrognathia, Clinodactyly of the 5th finger, Microdontia, Spina bifida occulta, Join... ORPHA:904
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Frontal bossing, Failure to thrive, Anteverted nares, Depressed nasal bridge, Short... OMIM:613563
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly OMIM:600092
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Small hand, Obesity, Fib... ORPHA:444077
Viss Syndrome
Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, High palate, Broad uv... OMIM:619472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Micrognathia, Broad nasal tip, Wide ... OMIM:618548
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Broad nasal tip, Large for gestational age, Thick lower lip vermilion, ... ORPHA:137634
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia OMIM:234050
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex... ORPHA:746
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Carious teeth, Flexion contracture, Enamel hypoplasia, Narrow ... ORPHA:90324
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology ORPHA:2238
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... OMIM:619718
Familial Calcium Pyrophosphate Deposition
Osteoarthritis, Limitation of joint mobility, Arthritis, Calcification of cartilage, Chondrocalci... ORPHA:1416
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hernia, Missing ribs, Smal... ORPHA:50
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swoll... OMIM:256520
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Ano... OMIM:603457
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Immunodeficiency 9
Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix OMIM:245650
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Prominent nose, High, narrow palate, Short philtrum, Widely spaced teeth, Clinod... ORPHA:466791
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Choanal atresia, Submucous cleft hard palate, Retrognathia, Plagiocepha... OMIM:619227
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5... OMIM:113620
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Anteverted nares, Postaxial polydactyly, Plagiocephaly, Hip dyspla... ORPHA:457284
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Midface retrusion, Long foot, Large for gestational age, Abnormal thumb morpholo... ORPHA:500095
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Pes planus, Small for gestational age, Depressed nasal bridge, Short stature, Postnatal... OMIM:613355
Fucosidosis
Failure to thrive, Lipoatrophy, Brachycephaly, Abnormality of the dentition ORPHA:349
Alkaptonuria
Abnormality of the nose, Cartilage destruction, Joint stiffness, Osteoarthritis, Reduced bone min... ORPHA:56
Faundes-Banka Syndrome
Thin upper lip vermilion, Pes planus, Frontal bossing, Micrognathia, Underdeveloped nasal alae, B... OMIM:619376
Holoprosencephaly 7
Flat occiput, Hypoplastic nasal septum, Parietal bossing, Median cleft palate, Hypoplasia of the ... OMIM:610828
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Fused teeth, High palate, Shor... OMIM:300896
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni... OMIM:619488
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Cachexia, Brachycephaly, Growth delay, Delayed p... ORPHA:2072
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Cle... OMIM:214800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261537
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Short phalanx of finger, Short stature, Delayed puberty OMIM:208060
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Wide nose, Severe short stature, Abnormal dental enamel morphology, Congenital... ORPHA:2556
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:2152
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Adult-Onset Still Disease
Cartilage destruction, Recurrent pharyngitis, Arthritis ORPHA:829
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Bulbous nose, Brachycephaly, Widely-spaced maxillary central incisors, Sh... OMIM:608980
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa... OMIM:606170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing r... ORPHA:3186
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela... OMIM:617247
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261552
Johanson-Blizzard Syndrome
Joint laxity, Small for gestational age, Single transverse palmar crease, Short stature, Underdev... OMIM:243800
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial bowing... OMIM:259770
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Exaggerated cupid's bow, Tapered finger, Broad nasal tip, Dolichocephaly, Wide n... OMIM:619480
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Isolated Exencephaly
Abnormal calvaria morphology, Depressed nasal bridge, Abnormal facial skeleton morphology, Hypopl... ORPHA:563612
Aspartylglucosaminuria
Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Hypoplastic frontal sinuse... OMIM:208400
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Enamel hypomineralization, Reduced bone mineral... ORPHA:47159
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology ORPHA:1334
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Postnat... OMIM:192350
Hermansky-Pudlak Syndrome
Epistaxis, Abnormal dental enamel morphology, Weight loss ORPHA:79430
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Weight loss, Enthesitis, Arthritis, Recurr... ORPHA:29207
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Micrognathia, Cleft lip, Brachycephaly, Cleft palate, Retrognathia OMIM:265380
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Small for gestat... OMIM:107480
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Common Variable Immunodeficiency
Failure to thrive in infancy, Brachycephaly ORPHA:1572
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone,... OMIM:306955
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Tuberous Sclerosis 1
Dental enamel pits, Gingival fibromatosis, Shagreen patch OMIM:191100
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... ORPHA:733

Histopathology

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

There is no histopathology data for Slc10a7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc10a7.

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

Title Journal IMPC Allele PubMed ID
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Nature communications (August 2018) Slc10a7tm1a(EUCOMM)Hmgu PMC6078967

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc10a7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc10a7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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