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Gene: Wdr19 MGI:2443231

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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:
WD repeat domain 19
Synonyms:
C330027H04Rik,  D330023L08Rik,  DYF2,  Ift144

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 Wdr19 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 predicted to be associated to Wdr19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th... ORPHA:1988
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Microgna... OMIM:618393
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Ver... OMIM:109400
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial ha... OMIM:241800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Three M Syndrome 1
Mandibular prognathia, Pes planus, Scapular winging, Hyperlordosis, Pectus excavatum, Increased v... OMIM:273750
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... OMIM:611209
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Short neck, Flexion contractu... OMIM:616897
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... OMIM:614753
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Achondrogenesis, Type Ii
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... OMIM:200610
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ... OMIM:224400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydact... ORPHA:294975
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... OMIM:213980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis... ORPHA:1865
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... ORPHA:50
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... ORPHA:3268
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Prieto Syndrome
11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Osteoporosis, Patella... OMIM:309610
Greenberg Dysplasia
Micromelia, Beaded ribs, Hypoplasia of the maxilla, Micrognathia, Multiple prenatal fractures, Pa... OMIM:215140
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Missing rib... OMIM:617866
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... ORPHA:915
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Lateral clavi... OMIM:600920
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D... ORPHA:401942
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li... ORPHA:3080
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Trisomy 13
Anophthalmia, High, narrow palate, Narrow chest, Bilateral single transverse palmar creases, Cryp... ORPHA:3378
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pectus excavatum, Metat... ORPHA:1388
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Osteopo... OMIM:156510
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... ORPHA:2412
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, He... ORPHA:2021
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u... OMIM:304050
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... ORPHA:2311
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... OMIM:224690
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio... OMIM:271665
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic... OMIM:201170
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, High, narrow palate... OMIM:119600
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Lower limb asymmetry, C... ORPHA:1703
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Short neck, Cleft palate, ... OMIM:613885
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Postaxial hand polyda... OMIM:136760
Seckel Syndrome 4
11 pairs of ribs, Retrognathia, Low-set ears, Steep acetabular roof OMIM:613676
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma... ORPHA:949
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... ORPHA:628
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Diastasis recti, Limited elbow movement, Cleft upper l... OMIM:265050
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... ORPHA:776
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postax... ORPHA:2189
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofaci... ORPHA:2990
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidi... OMIM:615524
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... OMIM:277590
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Umbilical hernia, Stillbirth, Narrow chest, Short ribs, Absent or m... OMIM:600972
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:114300
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... OMIM:269860
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... OMIM:602535
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Cleft upper lip, Short neck, Rib fusion, Hemivertebrae, Cleft ... ORPHA:1394
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Hyperlordosis, Short neck, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Pectus excavatum, Abnormal zygomatic bone mo... ORPHA:2511
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse... ORPHA:79113
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragma... ORPHA:261344
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ... ORPHA:198
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Met... OMIM:618961
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Sensorineural ... ORPHA:261197
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Seckel Syndrome 5
11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palat... OMIM:613823
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... OMIM:613320
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... ORPHA:64755
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl... OMIM:223200
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, Posteriorly ... OMIM:617877
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... OMIM:154400
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Talipes, Pectus excavatum, Cry... ORPHA:376
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M... OMIM:614091
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... OMIM:200600
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange... ORPHA:3434
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Seckel Syndrome 1
Dental crowding, Single transverse palmar crease, Abnormal finger flexion crease, Micrognathia, S... OMIM:210600
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... ORPHA:916
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Pectus c... OMIM:300676
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of li... OMIM:146510
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Apl... ORPHA:3082
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... ORPHA:50945
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplasia of the iris, Finger ... ORPHA:2092
Recon Progeroid Syndrome
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Arachnodac... OMIM:620370
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... ORPHA:363417
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, Lum... ORPHA:313892
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Accessory oral frenulum, H... OMIM:258860
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m... ORPHA:1842
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the ph... OMIM:615630
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... ORPHA:93323
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Microcephaly-Micromelia Syndrome
Micromelia, Missing ribs, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Aqu... OMIM:251230
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Kyphosis, Deep... ORPHA:77300
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Osteopenia, Dental crowding, Abnormally large globe, High palate, Microdon... OMIM:269300
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Distal Monosomy 7Q36
Micrognathia, Pectus excavatum, Cryptorchidism, Non-midline cleft lip, Short neck, Symphalangism ... ORPHA:1636
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... OMIM:156400
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... ORPHA:1406
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Microtia, Long p... ORPHA:261295
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... OMIM:246560
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate, Narrow chest, Scoliosis, Arthrogryposis multiplex congen... OMIM:615731
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Abnormal thorax morphology, Orbital enc... OMIM:164180
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl... OMIM:617895
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... ORPHA:2462
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... ORPHA:2549
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ... ORPHA:3144
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib... ORPHA:2180
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, Narrow chest, High p... OMIM:266920
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthr... OMIM:618155
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon... OMIM:608154
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture... OMIM:312150
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Hypo... ORPHA:1101
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Crypto... ORPHA:1752
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hol... OMIM:214800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Protruding ea... ORPHA:85279
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te... OMIM:620099
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... OMIM:613803
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Joint stiffness, Pectus excavatum, A... ORPHA:3242
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Low-set ears, Microphthalmia... OMIM:616570
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Low-set ears, Malar f... ORPHA:1919
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Camptodactyly of toe, Hyperplasia of the maxi... OMIM:300280
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Microtia,... OMIM:239800
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosynostosis, Vertebral cleftin... OMIM:241500
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:763
Braddock Syndrome
Congenital muscular torticollis, Posteriorly rotated ears, Missing ribs, Pectus excavatum, Preaxi... ORPHA:52047
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access... OMIM:277170
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... ORPHA:263508
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Thic... OMIM:607872
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Scolios... ORPHA:85287
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Short neck, Ca... OMIM:616266
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Abnormally large globe, Short neck, Pe... OMIM:245600
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala... ORPHA:163649
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Long palm, Abnormality of the philtrum, Missing ribs, Aplasia/Hypoplasia of the t... ORPHA:2759
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal f... OMIM:194190
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patel... ORPHA:2958
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Non-midline cleft lip, Aplasia/Hyp... ORPHA:1104
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Missing ribs, M... OMIM:608022
Orofaciodigital Syndrome Xvii
Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Partia... OMIM:617926
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... ORPHA:192
Ritscher-Schinzel Syndrome 1
Syndactyly, Missing ribs, Micrognathia, Hydrocephalus, Hemivertebrae, Cleft palate, Low-set ears,... OMIM:220210
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar... ORPHA:2013
Cohen Syndrome
Pes planus, Thoracic scoliosis, Short metacarpal, Facial hypotonia, Single transverse palmar crea... OMIM:216550
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ... ORPHA:2780
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S... OMIM:305600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... ORPHA:481152
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl... ORPHA:2769
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr... ORPHA:1798
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short... ORPHA:3376
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... ORPHA:2662
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert... ORPHA:958
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Osteopenia, Micrognathia, Pectus carinatum, Broad thumb, High palate, Clinodactyly... OMIM:620194
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, ... ORPHA:3181
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Grant Syndrome
Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morphology, Abnormal ri... ORPHA:2097
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem... OMIM:619142
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Conductive hearing impairment, Stenosis of th... ORPHA:1513
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... ORPHA:90653
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... ORPHA:2673
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... OMIM:211350
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... ORPHA:3429
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr... OMIM:615761
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Missing r... OMIM:613686
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, P... ORPHA:166100
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... ORPHA:435638
Lateral Meningocele Syndrome
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... OMIM:268850
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... OMIM:600325
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... ORPHA:2345
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... OMIM:263520
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Short tub... ORPHA:85184
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Abnormal m... ORPHA:1307
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... OMIM:166300
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... OMIM:200980
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ... ORPHA:950
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... ORPHA:2484
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ... ORPHA:391474
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... ORPHA:2145
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hearing impairment, Micrognathia, Joint stiffness, Cryptorchid... ORPHA:1580
Achondrogenesis Type 1B
Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ri... ORPHA:93298
Lateral Meningocele Syndrome
Decreased muscle mass, Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing... OMIM:130720
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ... OMIM:606851
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Narrow chest, ... OMIM:218330
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the verteb... ORPHA:93262
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Stickler Syndrome, Type I
Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodactyly, Scolios... OMIM:108300
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Campomelic Dysplasia
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Short neck,... ORPHA:1834
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... OMIM:117650
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Azoospermia, Abnormality of... OMIM:601076
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fi... OMIM:608149
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... OMIM:300534
3C Syndrome
Finger syndactyly, Intestinal malrotation, Missing ribs, Micrognathia, High, narrow palate, Hydro... ORPHA:7
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... OMIM:617102
Burn-Mckeown Syndrome
Mandibular prognathia, Hearing impairment, Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cle... OMIM:608572
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Sho... OMIM:612921
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Short tibia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3r... OMIM:118651
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... OMIM:300373
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:141400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Cryp... ORPHA:2588
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Mucopolysaccharidosis Type 4
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal dental enamel morphology, Hy... ORPHA:582
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Micrognathia, Clinodactyly of the 2nd toe, Coxa valga, Cryptorchi... OMIM:620073
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia... OMIM:122860
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den... ORPHA:178303
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebr... ORPHA:79345
Cdags Syndrome
Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cle... OMIM:603116
Recombinant 8 Syndrome
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodactyly of the 5th f... ORPHA:96167
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... OMIM:268305
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis OMIM:618356
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... ORPHA:245
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Protruding ear, Widely-s... OMIM:148050
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilat... OMIM:619122
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ... OMIM:164745
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig... ORPHA:2108
Zechi-Ceide Syndrome
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Steno... OMIM:612916
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the ... OMIM:614701
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morp... OMIM:607143
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polyda... OMIM:614815
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Short neck, Cleft pala... ORPHA:2015
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... OMIM:617140
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu... OMIM:616546
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... OMIM:305620
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdonti... OMIM:613610
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin... OMIM:259440
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger ORPHA:2776
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... OMIM:612530
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super... ORPHA:1787
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Micrognathia, Cryptorchidism,... ORPHA:3301
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl... OMIM:601559
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... OMIM:183700
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Crypt... ORPHA:90322
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e... ORPHA:2215
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... OMIM:218000
Brachydactyly, Type A4
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... OMIM:112800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Bilateral cryptorchidism, Macrotia, S... ORPHA:544488
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S... OMIM:263750
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... ORPHA:1327
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... OMIM:620107
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... ORPHA:1529
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Non-midline cleft lip, Cleft palate, Protruding ear, Scoliosis, Decreased testi... ORPHA:85273
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate,... OMIM:615582
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... OMIM:620269
Holoprosencephaly 9
Anophthalmia, Hypoplasia of the maxilla, Short philtrum, Holoprosencephaly, Hypoplasia of the pre... OMIM:610829
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Sandal gap, Dental crowding, Intestinal malrotation, Carious teeth, P... OMIM:617602
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th... ORPHA:508498
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi... ORPHA:93299
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p... OMIM:619941
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, ... OMIM:619184
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Posterio... OMIM:618529
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, De... OMIM:617808
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... ORPHA:3404
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thum... OMIM:614526
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... OMIM:601812
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... ORPHA:2522
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:3201
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormality ... ORPHA:1794
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ... OMIM:312870
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of fi... ORPHA:246
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Moebius Syndrome
Micrognathia, Short neck, Congenital fibrosis of extraocular muscles, High palate, Lower limb und... OMIM:157900
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Aqueduct... ORPHA:3412
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ... OMIM:309520
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... OMIM:305450
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Prominence of the premaxilla, Abnormal cortical bone morphology, Hydrocep... OMIM:614886
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Micrognathia,... ORPHA:576283
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Short neck, Triangular mouth, Flattened e... OMIM:607131
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ... OMIM:618622
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Fryns Microphthalmia Syndrome
Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Abnorma... OMIM:600776
1P36 Deletion Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the anus, Low-set, ... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening OMIM:300261
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... ORPHA:2710
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Supernumerary tooth, Postaxial ... OMIM:617088
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin... ORPHA:50814
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Hypophosphatasia, Childhood
Premature loss of primary teeth, Bowing of the legs, Carious teeth, Craniosynostosis, Myopathy, R... OMIM:241510
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Abnormal tragus morp... ORPHA:66625
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... ORPHA:2643
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... OMIM:215150
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact... OMIM:605627
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Low-set... ORPHA:1908
Mosaic Trisomy 8
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... ORPHA:96061
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb... ORPHA:404440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Palmoplantar hyperkeratosis... OMIM:225060
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Micrognathia, Sh... ORPHA:1486
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness, S... OMIM:300266
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... ORPHA:93351
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... OMIM:612651
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Posteriorly rotated ears, ... OMIM:615948
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... OMIM:615222
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... ORPHA:77258
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,... OMIM:215100
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... ORPHA:96170
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... OMIM:616145
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... ORPHA:2751
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Autosomal Recessive Amelia
Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper ... ORPHA:1027
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Non-mi... ORPHA:2075
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... OMIM:150250
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... ORPHA:1300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... OMIM:184250
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/... ORPHA:1647
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Cleft upper lip, Pectus excavatum, Short neck, Cupped ear, ... OMIM:609654
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Toe syndactyly, Tented upper lip vermilion, Delayed eruption o... ORPHA:819
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... ORPHA:94068
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth... OMIM:601216
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Short neck, Deep philtrum, Abnormal form of the ve... ORPHA:2162
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... OMIM:190351
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... OMIM:616229
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology... OMIM:248700
Monosomy 18P
Kyphoscoliosis, Micrognathia, Carious teeth, Pectus excavatum, Short neck, Cleft palate, Protrudi... ORPHA:1598
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... OMIM:216300
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural hearing impairment, Cleft p... OMIM:214300
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi... OMIM:257850
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... OMIM:258850
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic... OMIM:614437
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal pinna morphology, Facial palsy, Abno... ORPHA:3068
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... ORPHA:2554
Trisomy 9P
Sacral dimple, Bilateral single transverse palmar creases, Dental crowding, Short neck, Kyphosis,... ORPHA:236
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fr... ORPHA:83
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Microspheroph... OMIM:277600
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... OMIM:183900
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyl... DECIPHER:46
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Pes planus, Joint hypermobility, Hyperextensibility of t... OMIM:130000
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect... ORPHA:77301
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se... ORPHA:138
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... OMIM:156550
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis OMIM:300263
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Posteri... OMIM:612582
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... ORPHA:894
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger, ... OMIM:613792
Hartsfield Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Craniosynostosis, Non-midline cleft lip, Split ... ORPHA:2117
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ... OMIM:231070
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Skraban-Deardorff Syndrome
Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Recurrent otitis media, Pes ... OMIM:617616
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly OMIM:615984
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Low-set,... ORPHA:672
Temple Syndrome
Decreased testicular size, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus,... OMIM:616222
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... ORPHA:56305
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Zaki Syndrome
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Cuppe... OMIM:619648
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... OMIM:164210
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard... OMIM:222765
Meier-Gorlin Syndrome 5
Small earlobe, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epip... OMIM:613805
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Hearing impairment,... OMIM:618950
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... OMIM:608328
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... OMIM:618265
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High ... ORPHA:800
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3236
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Short neck, Cryptorchidism, Duplication of phalanx of ... OMIM:243310
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... OMIM:601357
Walker-Warburg Syndrome
Skeletal muscle atrophy, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, S... ORPHA:899
Microcephaly-Capillary Malformation Syndrome
Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Right ventricular hypertrophy, Low-s... OMIM:614261
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... OMIM:253290
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, N... ORPHA:251019
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... ORPHA:264450
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Torticollis, Stiff neck, Micrognathia, Short neck, Incre... OMIM:617022
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... ORPHA:2994
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Skeletal mu... ORPHA:314795
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finger syndact... ORPHA:87
Arthrogryposis Multiplex Congenita 5
Micrognathia, Short neck, Flexion contracture, Scoliosis, Hand clenching, Umbilical hernia, 11 pa... OMIM:618947
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Cryptorchidism, ... OMIM:613804
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... ORPHA:250984
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio... OMIM:620369
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Pectus excavatum, Increased variability in muscle fiber di... OMIM:614399
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o... OMIM:244600
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava... OMIM:201180
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Hearing abnormality, Cleft palate, Red... ORPHA:577
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hydro... OMIM:109120
Diamond-Blackfan Anemia 6
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re... OMIM:612561
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest, Microretrognathia, Ra... OMIM:301041
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Orofaciodigital Syndrome Xi
Cleft palate, Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process OMIM:612913
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal shoulder morp... ORPHA:1350
48,Xxyy Syndrome
Abnormal shoulder morphology, Chronic otitis media, Clinodactyly of the 5th finger, Abnormal dent... ORPHA:10
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla OMIM:613671
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abn... ORPHA:263463
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Und... OMIM:618188
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Deep pa... OMIM:311900
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Zechi-Ceide Syndrome
Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Abnormal earlobe morphology, Clef... ORPHA:217017
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Left ventricular hypertrophy, Facial palsy, Centrally nucleate... ORPHA:169186
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Talipes, Hemivertebrae, Anteriorly placed anus, Vertebral segmentat... OMIM:617661
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro... OMIM:309583
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... ORPHA:2872
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma... OMIM:269150
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joi... ORPHA:2475
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Pectus excavatum, Perianal abscess, Cryptorc... OMIM:614684
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Short neck, Downturned corners of mouth, Shor... OMIM:601808
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palat... ORPHA:2059
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... OMIM:618761
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal d... ORPHA:2916
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Esophageal atresia, Cryptorchidism, Hydrocephalus, Hemivertebrae,... ORPHA:77298
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Posteriorly rotated ears, H... ORPHA:264200
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Spinal canal stenosis, Anteriorl... OMIM:618624
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... OMIM:122470
Stickler Syndrome
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form o... ORPHA:828
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Congenital diaphragmatic hernia, Mic... ORPHA:1915
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:614669
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Tapered finger, Mesomelic/... OMIM:605039
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Bilateral single transverse pa... ORPHA:3380
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upp... OMIM:607597
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Pes planus, Joint laxity, Arachnodactyly, Postaxial polydactyly, Tapered f... OMIM:619721
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Cryptorchidism, Small hand... OMIM:300882
Larsen-Like Syndrome
Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Conductive hearing impairment, Dental maloc... OMIM:608545
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Small earlob... OMIM:608156
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Broad toe, Tented upper lip vermilion, Skeletal muscle a... ORPHA:488632
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... ORPHA:2563
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome... ORPHA:1299
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Dow... OMIM:619297
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Senso... OMIM:194350
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hyp... ORPHA:2409
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... OMIM:271650
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,... OMIM:102370
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... OMIM:619736
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, Macrotia, Preaxial polydactyly, Bilateral t... OMIM:618142
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl... OMIM:615108
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Alob... OMIM:610828
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fu... OMIM:300166
Native American Myopathy
Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Cryptorchidism, Abnorm... ORPHA:168572
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T... ORPHA:583
Stickler Syndrome, Type Ii
Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequence, Sensorine... OMIM:604841
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Cond... OMIM:219000
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingiv... OMIM:169400
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... ORPHA:94066
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... ORPHA:93346
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... ORPHA:2976
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Sensorineural hearing impairment, Pierre-Robin sequence... OMIM:184840
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Cleft palate, High palate, Low-set ears, Scoliosis, Malar flattening, Open mouth OMIM:620021
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Abnormally large globe, Protr... OMIM:249420
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... OMIM:184705
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cryptorchidism, Cleft palate, Pro... ORPHA:1166
Kbg Syndrome
Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Short n... ORPHA:2332
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t... ORPHA:2876
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Decreased muscle mass, Limited elbow movement, Microg... OMIM:615065
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... ORPHA:93271
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Short thorax, Micrognathia OMIM:601809
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Metatarsus adductus, Thick lo... ORPHA:293939
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... ORPHA:99772
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Sensorineural hearin... OMIM:607371
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, Anophthalmia, Aplasia... ORPHA:564
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... ORPHA:251056
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari... ORPHA:139471
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Posta... OMIM:264480
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl... OMIM:143095
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Diastasis recti, Lower limb asymmetry, Upper limb asymmetry, Protruding ear, Hig... ORPHA:231140
Caudal Regression Syndrome
Decreased muscle mass, Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphol... ORPHA:3027
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Micropht... OMIM:619981
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... ORPHA:235
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Abnormal intervert... ORPHA:887
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Thoracic scoliosis, Bilateral cleft lip, Short neck, Pectus excavatum, Shield chest, Low-set ears OMIM:616994
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n... OMIM:113620
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Conducti... OMIM:164200
Rapp-Hodgkin Syndrome
Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly... OMIM:129400
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Aplasia/Hypoplasia of the distal ph... ORPHA:1234
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Femoral bowing, Pectus carinatum, Enlarged thorax, Protruding ear, Reduc... OMIM:614856
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Hearing impairment, Ovoid vertebral bodies, Abnorm... ORPHA:1856
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... ORPHA:221120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Pyloric stenosis, Cryptorchidism, Small hand, Cleft palate, Short foot, High palate... ORPHA:96184
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Optic nerve hypoplasia,... OMIM:615583
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Short neck, Adduc... ORPHA:1147
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... ORPHA:93324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil... ORPHA:500150
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Smooth philtrum, Widely-spac... OMIM:618737
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl... OMIM:615109
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... ORPHA:73230
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Prominent ear helix, Large earlobe, Thick vermilion borde... ORPHA:411986
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Jacobsen Syndrome
Missing ribs, Pectus excavatum, Micrognathia, Pyloric stenosis, Cryptorchidism, Flexion contractu... OMIM:147791
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... OMIM:619194
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnorma... ORPHA:2645
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Fryns Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n... OMIM:229850
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... ORPHA:228396
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:2519
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Rocker bot... OMIM:617527
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... ORPHA:2463
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Radio-Renal Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib... ORPHA:3015
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Coffin-Siris Syndrome 3
Joint laxity, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft palate,... OMIM:614608
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd... OMIM:106260
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... OMIM:261540
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Camptodactyly of finger, Missing ribs, Meningocele, Duodenal stenosis ORPHA:1759
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Narrow palate, Multiple sut... ORPHA:207
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Monosomy 9P
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Anotia, H... ORPHA:261112
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Clino... ORPHA:251061
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Optic nerve hypoplasia, Missing ribs, Crypto... OMIM:206900
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,... ORPHA:90321
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Cleft palate, Micrognathia OMIM:231060
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Ri... OMIM:157800
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Conductive hearing impairment, Supernumerary tooth, Submucous cl... OMIM:617412
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malo... OMIM:269500
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial ... OMIM:105650
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation... OMIM:244300
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short neck, Flexion contractur... OMIM:263650
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears... ORPHA:313781
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Jo... OMIM:304110
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, H... ORPHA:373
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc... OMIM:157980
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty... ORPHA:397590
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... OMIM:309800
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... ORPHA:1512
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Leopard Syndrome 1
Mandibular prognathia, Scapular winging, Posteriorly rotated ears, Limited elbow movement, Missin... OMIM:151100
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... OMIM:619339
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, B... ORPHA:2461
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension,... OMIM:180870
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Flexion contracture of finger, Overlapping toe, Single transverse palmar ... ORPHA:254528
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab... OMIM:144750
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downt... OMIM:618371
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Hyperextensibility... OMIM:601492
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... ORPHA:2886
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slende... OMIM:612731
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, High palate, Narrow chest, Short philtr... OMIM:617746
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... OMIM:618348
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus, Th... OMIM:616294
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Low-set, posteriorly rotated ears, Joint laxity, M... ORPHA:75857
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pes planus, Cleft upper lip, Pectus excavatum, Cryptorchidism, Cleft palate, Finger joint hypermo... OMIM:244200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... OMIM:615633
3Mc Syndrome 1
Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Diastasis recti, C... OMIM:257920
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Bifid uvula, ... ORPHA:2671
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia ORPHA:93950
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Deep... ORPHA:293725
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... ORPHA:93315
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... ORPHA:2636
Facial Clefting, Oblique, 1
Cleft upper lip, Talipes calcaneovalgus, Cleft palate, Deep palmar crease, Microphthalmia OMIM:600251
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sandal gap, Abnormal pinna morphology, Hearing impairment, Cryptorchid... OMIM:614607
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Oligodontia, A... ORPHA:2095
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineural hearing impa... ORPHA:560
Koolen-De Vries Syndrome
Anteverted ears, Positional foot deformity, High palate, Widely spaced teeth, Prominent fingertip... OMIM:610443
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Pentalogy Of Cantrell
Encephalocele, Talipes, Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, N... ORPHA:1335
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... ORPHA:2804
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal form of t... ORPHA:52
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate... OMIM:164220
Microphthalmia, Syndromic 6
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, Hi... OMIM:607932
Abruzzo-Erickson Syndrome
Toe syndactyly, Cryptorchidism, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar ... ORPHA:921
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus, Hydrocephalus, Protruding ear OMIM:618302
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Decrea... ORPHA:99742
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... ORPHA:957
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Cleft... OMIM:618571
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Cerebrocostomandibular Syndrome
Hydranencephaly, Spina bifida, Micrognathia, Tracheomalacia, Conductive hearing impairment, Myelo... ORPHA:1393
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... OMIM:616580
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Facial hypotonia, Postaxial polydactyly, Pectus excavat... OMIM:616362
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Orofacial c... ORPHA:1692
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:264700
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Posteriorly rotated ears, Hyperlordosis, Pierre-Robin sequence, Sma... OMIM:619980
Fraser Syndrome
Anophthalmia, Dental crowding, Orofacial cleft, Vertebral segmentation defect, High palate, Condu... ORPHA:2052
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Macrotia, Short di... OMIM:181180
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Abnormal pinna morphology, P... OMIM:614175
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
49,Xxxxy Syndrome
Mandibular prognathia, Short neck, Holoprosencephaly, Chronic otitis media, Clinodactyly of the 5... ORPHA:96264
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... OMIM:604757
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... OMIM:130070
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr... ORPHA:2538
Scarf Syndrome
Low-set, posteriorly rotated ears, Diastasis recti, Craniosynostosis, Short neck, Cryptorchidism,... ORPHA:3134
Tibial Hemimelia
Absent tibia OMIM:275220
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Short neck, Downturned corners of mouth, Short philtrum, Slender finger, Smooth ... OMIM:613192
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing, Anotia, Microtia... OMIM:616462
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Short foot, Wide mouth, Median pseudocleft lip, Recurrent otitis media, Low-set ears, C... OMIM:619758
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Pes planus, Facial palsy, Congenital diaphragmatic hernia, Micrognathia... OMIM:301022
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Cleft lip, Cleft palate, Microtia, Scoliosis, Narrow mouth, Conducti... ORPHA:398156
48,Xxxy Syndrome
Mandibular prognathia, Short neck, Chronic otitis media, Clinodactyly of the 5th finger, Abnormal... ORPHA:96263
Distal Duplication 17Q
Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Joint laxity, Rhizome... ORPHA:3379
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... OMIM:112350
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... OMIM:216100
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears, Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... OMIM:118100
Congenital Myopathy 17
Mandibular prognathia, Diaphragmatic eventration, Tented upper lip vermilion, Overlapping toe, Ta... OMIM:618975
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Phosphoribosylaminoimidazole Carboxylase Deficiency
Missing ribs, Bilateral cryptorchidism, Esophageal atresia, Short neck, Tracheoesophageal fistula... OMIM:619859
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl... OMIM:158350
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... ORPHA:79500
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenit... OMIM:208150
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Abnormally large globe, Hypoplastic pubic bone, Gingiv... OMIM:614592
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... OMIM:300990
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... OMIM:136140
Tetrasomy 9P
Myositis, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High ... ORPHA:3310
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... ORPHA:666
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Trisomy 12P
Micrognathia, Short neck, Cleft palate, Downturned corners of mouth, Aplasia/Hypoplasia of the ir... ORPHA:1699
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint laxity, Pes planus, Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, De... OMIM:620098
Distal Deletion 19P
Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the maxilla, Sensorine... ORPHA:96129
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... ORPHA:485
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Sandal gap, Micrognathia, Pectus excavatum, Narrow mout... OMIM:270450
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... OMIM:277440
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M... OMIM:180849
Kenny-Caffey Syndrome, Type 1
Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... OMIM:244460
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Irregular dentition, Anal stenosis, Tracheomalacia, Micrognathia, Hypopla... ORPHA:314679
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Pect... ORPHA:261236
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasi... ORPHA:96149
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... ORPHA:3473
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced... ORPHA:581
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Cleft palate, High... OMIM:618388
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Microphthalmia, Anal atresia, Hearing impairment ORPHA:195
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... ORPHA:1318
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Microdo... OMIM:259775
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Low-set, posteriorly rotated ears, A... ORPHA:59315
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... OMIM:605130
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Trisomy 17P
Skeletal muscle atrophy, Talipes, Tapered finger, Micrognathia, Short neck, Hydrocephalus, Flexio... ORPHA:261290
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Pr... ORPHA:96148
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C... ORPHA:95699
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Hydrocephalus, Large earlobe, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Blepharonasofacial Malformation Syndrome
Finger syndactyly, External ear malformation, Cryptorchidism, Non-midline cleft lip, Cleft palate... ORPHA:1252
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... OMIM:115150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Proximal placement of thumb, Micrognathia, Short neck, Wid... OMIM:217980
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Anal atresia, Abnormal dental morphology, Abnormal dental enamel mo... ORPHA:85199
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... ORPHA:1788
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... ORPHA:436003
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Th... OMIM:618395
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Microme... OMIM:610682
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, Pro... ORPHA:2953
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... ORPHA:3186
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe... OMIM:619227
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Kyphoscoliosis, Short neck, Abnorma... OMIM:302960
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Kyphosis, 2-3 toe ... OMIM:616449
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu... OMIM:620113
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Postaxial polydactyly, Hydro... OMIM:614424
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... ORPHA:536471
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Long fingers, ... ORPHA:447980
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Short neck, Abnormal rib m... ORPHA:488434
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, H... ORPHA:251028
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ... ORPHA:488642
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... OMIM:210710
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Thoracolumbar kyphosc... OMIM:212066
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:602483
Mosaic Trisomy 9
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Spina bifi... ORPHA:99776
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Short neck, Increased femoral a... OMIM:609460
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Diastasis recti, Short neck, Cryptorchidism, Coron... OMIM:312830
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Hyperextensibility at elbow, Rhizomelia... ORPHA:319182
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Microg... ORPHA:2754
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Wide anterior fontanel, Cryptor... OMIM:607812
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Wide anterior fontan... OMIM:275210
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... ORPHA:65759
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hydroceph... OMIM:620157
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Brachydactyly OMIM:615982
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... ORPHA:1506
Bardet-Biedl Syndrome 16
Recurrent otitis media, Polydactyly, Hearing impairment OMIM:615993
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,... ORPHA:2308
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orof... OMIM:601701
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ... OMIM:300219
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Short neck, Calcaneovalgus deformity, Neonatal death, Fing... OMIM:256520
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Nar... ORPHA:508533
Mend Syndrome
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Posteriorly rotated ears, Microg... OMIM:300960
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Joubert Syndrome 10
Low-set ears, Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Short neck, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, A... OMIM:612938
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Cryptor... OMIM:227330
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... ORPHA:436
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... ORPHA:1784
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip,... OMIM:249000
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Bell-shap... OMIM:615636
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin vermilion bo... ORPHA:544254
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo... ORPHA:536532
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasi... ORPHA:1926
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... ORPHA:356961
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... OMIM:101400
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Posteriorly rotated ears, Sin... OMIM:247200
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... ORPHA:798
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Osteopenia, Single transverse palmar crease, Micrognath... OMIM:150230
Coffin-Siris Syndrome 11
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Downturned corners of mouth,... OMIM:618779
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Talipes c... ORPHA:818
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, G... OMIM:619698
Hartsfield Syndrome
Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Alobar... OMIM:615465
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Aplasia of... ORPHA:1358
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Micro... ORPHA:2044
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Micrognathia, Pectus excavatum, Long fingers, Short neck, Cleft palate,... OMIM:156610
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Diastasis recti, Micrognathia, Esophageal atresia, C... OMIM:265380
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... ORPHA:401973
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Cleft upper lip, Cryptorchidism, Sensorineural hearing impairment, Cleft palate, Toot... OMIM:147950
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Bilateral single transverse palma... ORPHA:1770
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Gin... OMIM:225410
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microm... ORPHA:35107
Schisis Association
Encephalocele, Micromelia, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoeso... ORPHA:63862
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... OMIM:276820
Xylt1-Cdg
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver... ORPHA:370930
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, S... OMIM:601499
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Irregular, ... ORPHA:289157
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Tracheomalacia, Micrognathia, Metatarsus adductus, Abnormality of th... ORPHA:513456
Short Stature-Micrognathia Syndrome
Joint laxity, Rhizomelia, Bowing of the legs, Micrognathia, Coxa valga, Metaphyseal widening, Cry... OMIM:617164
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Micrognathia, Joint stiffness, High, narrow palate, Short neck, Cleft palate, Short distal phalan... ORPHA:2516
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso... OMIM:605274
Kagami-Ogata Syndrome
Pursed lips, Diastasis recti, Kyphoscoliosis, Coxa valga, Micrognathia, Large placenta, Short nec... ORPHA:254519
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Retrognathia, Supernumerary ribs, Low-set ... ORPHA:163961
Birk-Barel Syndrome
Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi... OMIM:612292
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... OMIM:241310
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, 2-3 to... OMIM:620025
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Clinodacty... ORPHA:1724
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Ap... ORPHA:3305
Larsen Syndrome
Finger syndactyly, Brachydactyly, Craniosynostosis, Cryptorchidism, Accessory carpal bones, Cleft... ORPHA:503
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bif... OMIM:607323
Prune Belly Syndrome
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Abnormal ri... ORPHA:2970
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... OMIM:615297
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... ORPHA:64754
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification ... OMIM:614613
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Pre... OMIM:243605
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... OMIM:616894
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Polydactyly, Low-set ears ORPHA:314655
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... ORPHA:96169
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Thin ribs, High palate, Retrognathia, Joint hypermobility ORPHA:456328
Donnai-Barrow Syndrome
Diaphragmatic eventration, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragm... OMIM:222448
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... OMIM:236680
Witteveen-Kolk Syndrome
Glue ear, Proximal placement of thumb, Congenital diaphragmatic hernia, Uplifted earlobe, High, n... OMIM:613406
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... ORPHA:3107
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Pectus excavatum, Cryptorchidism... OMIM:618505
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectu... ORPHA:309282
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Preaxial poly... OMIM:603671
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co... OMIM:217150
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encepha... ORPHA:280195
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtr... ORPHA:50810
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Thoracolum... OMIM:252500
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... OMIM:619879
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... OMIM:614976
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Posteriorly rotated ears, Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, ... OMIM:301066
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... OMIM:600383
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Cl... OMIM:616038
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Thin upper lip vermilion, Posteriorly rotated ears, Rocker ... OMIM:601353
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Hand poly... OMIM:217100
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Cleft pa... OMIM:619124
Cranioectodermal Dysplasia 3
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... OMIM:614099
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... ORPHA:2879
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib ... ORPHA:2772
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corner... ORPHA:955
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, C... OMIM:615873
Joubert Syndrome 37
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, High palat... OMIM:619185
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the out... ORPHA:2305
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure ... ORPHA:2250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Cleft palate, Scoliosis, Bifid uvula, Hearing impairment OMIM:300958
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion contracture, Cutaneo... OMIM:178110
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Decreased muscle mass, Dental crowding, Pectus carinatum, High palate, Sho... ORPHA:3063
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Cryptorchidism, ... OMIM:614230
Loeys-Dietz Syndrome 4
Joint laxity, Pes planus, Torticollis, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltra... OMIM:614816
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... ORPHA:994
Glass Syndrome
Arachnodactyly, Anterior tibial bowing, Dental crowding, Micrognathia, Conical tooth, Narrow mout... OMIM:612313
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... OMIM:259050
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, Progressiv... OMIM:608612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism, M... OMIM:236670
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Congenital diaphragmatic hernia, Cleft uppe... OMIM:614294
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cu... ORPHA:2399
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis... ORPHA:570
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Diamond-Blackfan Anemia
Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,... ORPHA:124
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Patellar hypoplasia, Wide mouth, Ta... ORPHA:1827
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Short neck, Pectus excavatum, Cry... ORPHA:1340
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Osteopenia, Hypoplastic ischia, Bowing of the l... ORPHA:313855
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermi... ORPHA:782
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hearing impairment, Abnormali... ORPHA:364577
3Mc Syndrome 3
Sacral dimple, Abnormal pinna morphology, Diastasis recti, Cleft upper lip, Cryptorchidism, Preax... OMIM:248340
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydroc... ORPHA:85284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:352665
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Conductive hea... OMIM:600373
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mob... ORPHA:314621
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... ORPHA:93473
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Optic disc hypoplasia, Micrognathia, Sh... ORPHA:233
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... ORPHA:534
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... OMIM:615349
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... OMIM:119500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Hip... OMIM:620005
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Cle... OMIM:301091
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Short neck, Pectus excavatum, Sensorineural hearing impairment, Cupped... ORPHA:52055
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear... OMIM:613458
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Facial pal... OMIM:254940
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Single transverse palmar crease... OMIM:223370
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... OMIM:616730
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse... OMIM:615656
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Pes planus, Joint laxity, Overlapping toe, Dental crowding, Kyphoscoliosis... OMIM:617402
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o... OMIM:619269
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Pectus excavatum, Abnormal toe m... ORPHA:268261
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Limited elbow movement, Micrognathia, Joint stiffness, Flexio... OMIM:614008
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Bilateral microphtha... OMIM:601186
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Orofacial Cleft 14
Median cleft lip OMIM:615892
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon... ORPHA:2604
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
9Q21.13 Microdeletion Syndrome
Talipes, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corners of mout... ORPHA:531151
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi... ORPHA:60015
Johnson Neuroectodermal Syndrome
Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Hand polyda... ORPHA:2316
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... OMIM:301043
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Cryptorchidism, Hydrocephalus, A... ORPHA:1812
Holoprosencephaly 2
Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft... OMIM:157170
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Stapes ankylosis, Broad hallux, ... OMIM:614188
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Posteriorly rotated ears, ... ORPHA:2211
Toriello-Carey Syndrome
Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Short neck, W... ORPHA:3338
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Cleft lip, Cryptorchidism, Kyphosis, Cleft palate, Protruding ear, Camptodactyly, C... OMIM:619123
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impairment, Short... OMIM:132450
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Mus... OMIM:182250
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Small earlob... OMIM:272950
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Sacral dimple, Posteriorly rotated ears, Postaxial polydactyly, Tapered finger, Abn... OMIM:300968
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Downturned corners of mo... OMIM:619539
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly OMIM:613819
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... OMIM:147250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Deep philtrum, Esophageal a... OMIM:610536
Buratti-Harel Syndrome
Broad hallux, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insufficiency, Submucous c... OMIM:619314
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Sandal gap, Rhabdomyosarcoma, Malar prominence, Micrognathia, Cleft upp... OMIM:251260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Spinal rigidity, Hydrocephalus, Cleft palate, Skeletal muscle hyp... OMIM:613150
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Crypt... ORPHA:2008
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Pyloric st... ORPHA:457279
Craniofacioskeletal Syndrome
Barrel-shaped chest, Thin upper lip vermilion, Pes planus, Posteriorly rotated ears, Micrognathia... OMIM:300712
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia OMIM:616910
Diprosopus
External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Abnormally large globe, Kypho... OMIM:603387
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Preaxial hand polydactyly, Deep phi... ORPHA:1297
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... OMIM:607361
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,... ORPHA:884
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Arachnodactyly, Diastasis recti, Micrognathia, Sensorineural hearin... OMIM:618971
Loeys-Dietz Syndrome 2
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... OMIM:610168
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp... OMIM:135900
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl... OMIM:620183
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... ORPHA:464
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... ORPHA:141099
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... ORPHA:2165
Mosaic Variegated Aneuploidy Syndrome 1
Posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Hydrocephalus, Embryonal rhab... OMIM:257300
Dominant Beta-Thalassemia
Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Malar prom... ORPHA:231226
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal hand morphology, Small hand, Azoospermia, Broad finger, Long philtrum, Low-set ears, Ret... OMIM:300845
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Micrognathia, Short neck, Cryptorchidism, Postaxial hand polydactyly, A... OMIM:235255
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
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Hearing impairment ORPHA:2578
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Cleft palate, P... OMIM:603736
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard pa... OMIM:612863
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Anophthalmia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, ... ORPHA:2556
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... OMIM:601803
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmia, Decreas... OMIM:602361
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... OMIM:250250
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa... ORPHA:1484
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypoplastic sac... OMIM:604292
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
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... OMIM:619127
Arterial Tortuosity Syndrome
Joint laxity, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum, Hi... OMIM:208050
Dyskeratosis Congenita
Esophageal stenosis, Recurrent fractures, Hearing impairment, Abnormality of the dentition, Hypop... ORPHA:1775
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metata... OMIM:617137
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,... ORPHA:558
Skin Creases, Congenital Symmetric Circumferential, 2
Uplifted earlobe, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Microdont... OMIM:616734
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of... OMIM:129900
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th... ORPHA:1225
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic h... OMIM:613309
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... OMIM:619472
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Opitz Gbbb Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Cleft upper lip, Rectourethral fistula, Wide ... OMIM:300000
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel... OMIM:193500
Kabuki Syndrome 2
Joint laxity, Natal tooth, Hearing impairment, Micrognathia, Lower lip pit, Cupped ear, Dental ma... OMIM:300867
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmatic hernia, Hyp... ORPHA:63259
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Recurrent patellar dislo... OMIM:615877
Gm1 Gangliosidosis Type 1
Spatulate ribs, Macrotia, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Ma... ORPHA:79255
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate, Wi... OMIM:619103
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima... ORPHA:667
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hydrocephalus, Esophageal varix, Hip dysplasia, Inflammation of the large ... OMIM:614576
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull... ORPHA:1662
Nance-Horan Syndrome
Diastema, Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia... OMIM:302350
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... OMIM:618021
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Distal Deletion 3P
Low-set, posteriorly rotated ears, Sacral dimple, Micrognathia, Short neck, Cryptorchidism, Posta... ORPHA:1620
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary... ORPHA:363444
Rothmund-Thomson Syndrome Type 2
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, C... ORPHA:221016
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:241530
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, High palate, Simple ear, Joint laxity, Facial palsy, Short thumb, C... OMIM:619325
C Syndrome
Micromelia, Micrognathia, Congenital diaphragmatic hernia, Short neck, High palate, Clinodactyly ... ORPHA:1308
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Sensorineural heari... OMIM:242840
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Pes planus, Mixed heari... OMIM:614557
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap... ORPHA:404448
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Pes planus, Joint laxity, Dental crowding, Kyphoscoliosis, High, narrow palate, Na... OMIM:300967
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Tapered finger, Submucous cleft ... OMIM:619680
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ... ORPHA:217085
Kindler Epidermolysis Bullosa
Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Premature loss of ... ORPHA:2908
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... OMIM:113650
Distal Deletion 9P
Low-set, posteriorly rotated ears, Abnormality of the dentition, Short neck, High, narrow palate,... ORPHA:1642
Beta-Thalassemia Major
Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Malar prom... ORPHA:231214
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Aspartylglucosaminuria
Mandibular prognathia, Pectus carinatum, Anterior beaking of lumbar vertebrae, Chronic otitis med... ORPHA:93
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Hydrocephalus, Cleft palate, Hypo... OMIM:273395
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Micrognathia, Fatty replacement of skeletal muscle, Cryp... OMIM:255995
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Y-shaped metacarpa... OMIM:615996
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ... ORPHA:217093
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Cranioectodermal Dysplasia 4
Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Protruding ear, Hip dysplasia, ... OMIM:614378
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th finger, Conduc... ORPHA:709
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Short thumb, Osteoporosis, Cleft palate, Atresia of the ex... OMIM:612562
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis OMIM:611560
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Malar flattening, Microphthalmia, Bif... OMIM:229400
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... OMIM:612284
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick... ORPHA:250999
Aspergillosis
Osteomyelitis, Sinusitis, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of ... ORPHA:1163
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
8P11.2 Deletion Syndrome
Sacral dimple, Micrognathia, External ear malformation, Cryptorchidism, Azoospermia, High palate,... ORPHA:251066
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
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
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacia... ORPHA:268249
Nephronophthisis 15
Polydactyly OMIM:614845
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou... OMIM:154500
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Tapered finger, Cry... ORPHA:1272
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Abnormality of the ear, Downturned corners of mouth, Hypoplast... ORPHA:3455
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Narrow foot, Protruding ear, High palate, Short philtrum, Cl... OMIM:309500
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Sensorineural hea... OMIM:618460
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... OMIM:142900
Occipital Horn Syndrome
Pectus carinatum, High palate, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hia... OMIM:304150
Microphthalmia, Syndromic 5
Joint laxity, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia OMIM:610125
Agnathia-Otocephaly Complex
Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holoprosence... OMIM:202650
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Micrognathia OMIM:614857
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Hypoplasia of the i... OMIM:600092
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Single transverse palmar crease, Facial hypotonia, Protruding tongue, Posteriorl... OMIM:618106
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion bo... ORPHA:920
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... OMIM:301044
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Microphthalmia OMIM:153400
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat... ORPHA:158687
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Cryptorchidi... ORPHA:169189
Velocardiofacial Syndrome
Talipes, Abnormality of the hand, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft h... OMIM:192430
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... ORPHA:261537
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... ORPHA:769
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Lower limb asymmetry, Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip an... ORPHA:2003
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... OMIM:609192
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... OMIM:617063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cupped ea... OMIM:614080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, C... ORPHA:83617
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Microtia, Submucous cleft soft palat... ORPHA:2282
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:881
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ... OMIM:280000
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Calcinosis, Sh... ORPHA:221008
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Anteverted ears, Downturned corners of mouth, Lo... OMIM:616268
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Pes planus, Arachnodactyly, Broad hallux, Pectus excavatum, Cubitus valgus, Dental ... OMIM:601552
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... OMIM:122880
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... ORPHA:2152
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Low-... ORPHA:93400
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... OMIM:260400
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Desmosterolosis
Rhizomelia, Posteriorly rotated ears, Micrognathia, Generalized osteosclerosis, Hydrocephalus, Cu... OMIM:602398
Degcags Syndrome
Osteopenia, Micrognathia, High palate, Diaphragmatic eventration, Syndactyly, Hiatus hernia, Shor... OMIM:619488
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Everted lower lip... OMIM:252930
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Posteriorly rotated ears, Cryptorchidism, Tracheobronchomalacia, P... OMIM:616835
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Slender long bone, Cleft palate, Cleft upper lip ORPHA:96181
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil... ORPHA:251038
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... OMIM:620186
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, Cutaneous syndactyly... OMIM:618332
Autosomal Recessive Hypophosphatemic Rickets
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... ORPHA:289176
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Duodenal stenosis, Low-set ears, M... ORPHA:2470
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest, General... OMIM:264090
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Generalized joint laxity, Protruding ear, High palate, Abnormal duodenum morphology, Microretrogn... OMIM:601776
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cryptorchidism, Submucous cleft ... ORPHA:3047
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... ORPHA:84
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Hy... OMIM:611134
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Lymphangiectasia, Intestinal
Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, Hi... OMIM:209900
H Syndrome
Hallux valgus, Pes planus, Recurrent fractures, Cleft upper lip, Malabsorption, Hydrocephalus, Gi... ORPHA:168569
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Non-midline cleft lip, Cleft palate ORPHA:1791
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Kabuki Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Orofacial cleft, Protruding ear, Abnormal form of... ORPHA:2322
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Hydrocephalus,... OMIM:614083
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... ORPHA:85165
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Talipes, Sensorineural hearing impairment, Submucous cleft hard palate, Sp... OMIM:617660
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Flexion contracture, Thin ribs, Narrow mouth, Microphthalmia OMIM:614833
Loeys-Dietz Syndrome
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excav... ORPHA:60030
You-Hoover-Fong Syndrome
Accessory oral frenulum, Hearing impairment, Pectus excavatum, Kyphoscoliosis, Cleft palate, Clin... OMIM:616954
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... ORPHA:261552
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Hearing impairment, Micrognathia, Kyphoscoliosis, High, nar... OMIM:163950
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pectus excavatum, Pyl... ORPHA:464306
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Naxos Disease
Vertigo, Palmoplantar keratoderma, Cleft upper lip ORPHA:34217
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... ORPHA:93941
Joubert Syndrome 23
Sensorineural hearing impairment, Polydactyly OMIM:616490
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... OMIM:252900
Meester-Loeys Syndrome
Pes planus, Arachnodactyly, Gingival overgrowth, Cervical spine instability, Abnormal sternum mor... OMIM:300989
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Facial hypotonia, Postaxial polydactyly, Optic nerve hypoplasia, Pectus excavatum, ... ORPHA:457284
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Hearing impairment, Increased... OMIM:619727
Renal Agenesis, Bilateral
Non-midline cleft lip, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Siren... ORPHA:1848
Ring Chromosome 7 Syndrome
Mandibular prognathia, Small earlobe, Single transverse palmar crease, Prominent crus of helix, S... ORPHA:1449
Culler-Jones Syndrome
Cryptorchidism, Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... ORPHA:353277
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistula, Rectal atresi... OMIM:115470
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Short nec... ORPHA:199
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Enamel hypoplasia, Malabsorption, Atrophic gastritis OMIM:240300
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Cryp... OMIM:258040
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t... OMIM:149730
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Anal stenosis, Rhabdomyosarcoma, Short neck, Hearing abnormality, Deep p... ORPHA:647
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Thorac... OMIM:614376
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Low-set, p... ORPHA:480880
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Micrognathia, Pectus excavatum, Abnormality of... ORPHA:2785
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s... ORPHA:2363
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, Polydactyly, High palate, Retrognathia, Hearing impairment OMIM:619869
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral m... ORPHA:857
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Decreased testicu... ORPHA:3044
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia... OMIM:192350
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral... OMIM:230500
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Senior-Loken Syndrome 9
Osteopenia, Polydactyly, Hypoplasia of the femoral head OMIM:616629
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Low-set ears, Hypoplastic he... OMIM:600460
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Abnormal pinna morphology, Tetraamelia, Cleft upper lip OMIM:273400
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Micrognathia, Cryptorchidism, Abnormality of the elbow, Small hand, Cleft ... ORPHA:85276
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia OMIM:243440
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria, Hearing impairment OMIM:252920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Hydrocephalus, Flexion contrac... OMIM:619321
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Abnormal mitochondrial shape, Short femur, Sensorineural ... ORPHA:17
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia OMIM:620306
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... OMIM:305100
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Kyphoscoliosis, Conical tooth, Hemivertebrae,... OMIM:308300
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Shwachman-Diamond Syndrome 2
Anterior rib cupping, Metaphyseal widening, High palate, Low-set ears, Steatorrhea, Metaphyseal i... OMIM:617941
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Acce... ORPHA:434179
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Faundes-Banka Syndrome
Thin upper lip vermilion, Pes planus, Micrognathia, Cryptorchidism, Cupped ear, Cleft palate, Mic... OMIM:619376
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Pes planus, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... OMIM:225400
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Sensorineural hearing impa... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Sensorineural hearing impa... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Sensorineural hearing impa... ORPHA:93924
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Flexion contracture, Hip dislocation, Sensorineural hearing impa... ORPHA:220386
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Abnormal foot morphology, Hydrocephalus, Abno... ORPHA:1666
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia... OMIM:100300
Choanal Atresia
Tracheomalacia, Polydactyly, Chronic sinusitis, Craniosynostosis ORPHA:137914
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... OMIM:613717
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Flaring of rib cage... OMIM:612852
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Kabuki Syndrome 1
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ... OMIM:147920
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Protruding ear, Thick vermilion border, Long philtrum, Microphthalmia ORPHA:2526
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Hypoplasia of... OMIM:180500
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pectus excavatum, Pyloric ste... OMIM:235730
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Sensorineural hearing impairment, Postaxial polydactyly OMIM:615824
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Cleft Soft Palate
Cleft soft palate OMIM:119570
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Vertigo, Esop... OMIM:301068
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia ORPHA:254534
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hearing im... OMIM:606170
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Legius Syndrome
Diaphyseal dysplasia, Abnormal sternum morphology, Vestibular schwannoma, Polydactyly, Scoliosis,... ORPHA:137605
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Cryptorchidism, ... OMIM:603457
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Hydrocephalus, Anencephal... OMIM:615287
Sotos Syndrome
No permanent dentition, Flexion contracture, Pedal edema, Conductive hearing impairment, Chronic ... ORPHA:821
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Lymphedema-Distichiasis Syndrome
Cleft palate, Cleft upper lip ORPHA:33001
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Decreased cervical spine mobility, Pol... ORPHA:95494
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Double Outlet Right Ventricle
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... ORPHA:3426
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Holoprosencephaly 14
Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hydrocephalus, Cleft ... OMIM:619895
Coccidioidomycosis
Osteomyelitis, Hydrocephalus, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality o... ORPHA:228123
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Low-set ears, Macrotia, Butterfly... OMIM:118450
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Congenital diaphragmatic hernia, Menin... ORPHA:991
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Hydrocephalus, Osteo... OMIM:612301
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate OMIM:142946
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Warburg-Cinotti Syndrome
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, ... OMIM:618175
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, ... OMIM:618891
Cntnap2-Related Developmental And Epileptic Encephalopathy
Pes cavus, Preaxial polydactyly ORPHA:163681
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first me... OMIM:619534
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Spermatogenic Failure 72
Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme central pair complex, ... OMIM:619867
Nephronophthisis 13
OMIM:614377

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 Wdr19

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 Wdr19.

No publications found that use IMPC mice or data for Wdr19.

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