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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Cleft palate, Talipes equinovarus, Thin upper lip vermilion, Low-set ears, Abnormality of pelvic ... ORPHA:1988
Basal Cell Nevus Syndrome
Plantar pits, Cleft palate, Abnormal sternum morphology, Short ribs, Hydrocephalus, Short 4th met... OMIM:109400
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Malar flattening, Joint contracture of the hand, Short ribs, Camptoda... OMIM:228520
Schneckenbecken Dysplasia
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... OMIM:269250
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Cleft palate, Microphthalmia, Vertebral fusion, Anophthalmia, Macrotia, Supernumera... OMIM:221950
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Talipes equinovarus, Short ribs, Femoral bowing,... OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Overfolded helix, Proximal plac... OMIM:609945
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Cleft hard pala... ORPHA:166016
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Cleft palate, Excessive femoral anteversion, Hitchhike... ORPHA:56304
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Microglossia, Short ribs, Hip dislocation, Hydrocephalus, Postaxial h... OMIM:241800
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosi... ORPHA:2790
Three M Syndrome 1
Thick lower lip vermilion, Pectus excavatum, Hypoplastic pelvis, Long philtrum, Mandibular progna... OMIM:273750
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Cleft palate, Undulate clavicles, Short metatarsal, Malar flattenin... OMIM:304120
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Dysosteosclerosis
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Absent fronta... OMIM:224300
Aarskog-Scott Syndrome
Cleft palate, Single transverse palmar crease, Pes planus, Delayed eruption of teeth, Finger synd... ORPHA:915
Kyphomelic Dysplasia
Flat acetabular roof, Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bow... ORPHA:1801
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Diastema, Cleft upper lip, Cleft lower lip, Abnormal mandible morphology, Fu... ORPHA:401942
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex congenita, Narrow chest, Scoliosis OMIM:615731
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Cleft palate, Talipes equinovarus, Prominent protruding coccyx,... ORPHA:2839
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattening, Short ribs... OMIM:215140
Arthrogryposis, Distal, Type 1C
Cleft palate, Hip contracture, Talipes equinovarus, Cleft lip, Camptodactyly of finger, Elbow fle... OMIM:619110
Intellectual Disability, Wolff Type
Thick lower lip vermilion, Abnormal intestine morphology, Large hands, Macrotia, Hypoplastic supe... ORPHA:3080
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Finger syndactyly, Abnor... ORPHA:3268
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Large fleshy ears, Short ribs, Multiple prenatal fractures, Low-set ears, Short fem... OMIM:616897
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Superiorly displaced ears... ORPHA:329252
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Low-set ears, Toe syndactyly, High palate, Hand oligodactyly, ... OMIM:206920
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Polydactyly, Stillbirth, Abnormal thorax morph... ORPHA:294975
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Cleft palate, Microdontia of primary teeth, Talipes equinovarus, Pes planus, Low-set ears, Hypopl... OMIM:213980
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger... ORPHA:1106
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Stillbirth, Short ribs, Advanced ossi... OMIM:215045
Prieto X-Linked Mental Retardation Syndrome
Talipes equinovarus, Patellar subluxation, Osteoporosis, Low-set ears, Radial deviation of finger... OMIM:309610
Aicardi Syndrome
Rib fusion, Butterfly vertebrae, Cleft palate, Short philtrum, Bifid ribs, Microphthalmia, Cleft ... ORPHA:50
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Short 5th metacarpal, Short philtrum, Metaphyseal dysplasia, Multiple sm... OMIM:156510
Kniest-Like Dysplasia, Lethal
Cleft palate, Talipes equinovarus, Metaphyseal irregularity, Malar flattening, Short ribs, Brachy... OMIM:245190
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Malar flattening, Broad toe, Hypoplastic... OMIM:268310
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Micrognathia, 2-3 toe syndactyly, Radial bowing, Decreased calvarial ossific... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Thin vermilion border, Platyspondyly, Sho... OMIM:602557
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Hip contracture, Pierre-Robin sequence, Short thorax, Pes planus, He... OMIM:618363
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormality of the knee, Malar flattening, Congenital hip dislocation... ORPHA:2412
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Metaphyseal widening, Malar flattening, Platyspondyly, Short r... OMIM:614524
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hemivertebrae, Unilateral brachydactyly, Hypopl... OMIM:173800
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cutaneous finger syndactyly, Cleft palate, Talipes equinovarus, Camptodact... OMIM:114300
Aicardi Syndrome
Rib fusion, Butterfly vertebrae, Cleft palate, Microphthalmia, Hemivertebrae, Bifid ribs, Cleft u... OMIM:304050
Marshall-Smith Syndrome
Overfolded helix, Malar flattening, Hearing impairment, Atlantoaxial dislocation, Low-set ears, U... OMIM:602535
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Trisomy 13
Cleft palate, Malar flattening, Abnormality of pelvic girdle bone morphology, Low-set ears, Micro... ORPHA:3378
Fibrochondrogenesis
Cleft palate, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the met... ORPHA:2021
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Pectus excavatum, Abnormality of epiphysis morphology, Chronic otitis... ORPHA:1388
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Abnormalit... ORPHA:93316
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... OMIM:613330
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Cleft palate, Genu varum, Talipes equinovarus, Joint contracture of ... OMIM:224690
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Cleft palate, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the... OMIM:224400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Cleft palate, Hamartoma of tongue, Neonatal death, Short ribs, ... OMIM:617925
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cleft palate, Talipes equinovarus, Short ribs, Anisospondyly, Hydrocephalus, Clubbing of fingers,... ORPHA:1865
Cleidocranial Dysplasia
Cleft palate, Abnormal facility in opposing the shoulders, Malar flattening, Short ribs, Absent f... OMIM:119600
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... OMIM:201170
Disorganization, Mouse, Homolog Of
Cleft palate, Sacral meningocele, Cleft upper lip, Sensorineural hearing impairment, Hip dislocat... OMIM:223200
Lethal Kniest-Like Dysplasia
Cleft palate, Broad long bones, Coronal cleft vertebrae, Talipes equinovarus, Anterior rib cuppin... ORPHA:2347
Weaver Syndrome
Talipes equinovarus, Joint contracture of the hand, Short ribs, Diastasis recti, Limited elbow ex... OMIM:277590
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, Mandibular prognathia, Ma... ORPHA:2511
Coffin-Lowry Syndrome
Rectal prolapse, Lumbar kyphosis, Pes planus, Protruding ear, Broad palm, Hypodontia, High palate... OMIM:303600
Mohr Syndrome
Cleft palate, Accessory oral frenulum, Malar flattening, Metaphyseal irregularity, Syndactyly, Hy... OMIM:252100
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Hand oligodactyly, Abnormality of the ulna, Abnormal form of the vert... ORPHA:3104
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Talipes equinovarus, Syndactyly, Low-set ears, Umbilical hernia, Dysplastic patella... OMIM:265000
Mmep Syndrome
Triphalangeal thumb, Microphthalmia, Mandibular prognathia, Oral cleft, Median cleft lip, Split foot ORPHA:3434
3Mc Syndrome 2
Abnormality of the vertebral column, Cleft palate, Radioulnar synostosis, Abnormal vertebral morp... OMIM:265050
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Cleft palate, Long philtrum, Congenital dia... ORPHA:2311
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, C... ORPHA:949
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, High palate, Cleft palate, Conductive hearing impairment, Postaxial... OMIM:277170
Frontonasal Dysplasia 1
Conductive hearing impairment, Microphthalmia, Hypoplastic frontal sinuses, Joint contracture of ... OMIM:136760
Mosaic Trisomy 14
Micrognathia, High palate, Cleft palate, Wide mouth, Ectopic anus, Lower limb asymmetry, Low-set,... ORPHA:1703
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxate... OMIM:311895
Lujan-Fryns Syndrome
Micrognathia, High palate, Pectus excavatum, Short philtrum, Arachnodactyly, Low-set ears, Abnorm... ORPHA:776
Diastrophic Dysplasia
Cleft palate, Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting th... ORPHA:628
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Short philtrum, Abnormality of epiphysis morphology, Bowing of the ... ORPHA:93267
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof, Low-set ears, Retrognathia OMIM:613676
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, ... OMIM:154400
Atelosteogenesis, Type Iii
Cervical segmentation defect, Micrognathia, Cleft palate, Tibial bowing, Radial bowing, Horizonta... OMIM:108721
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Catel-Manzke Syndrome
Micrognathia, High palate, Cleft palate, Pectus excavatum, Talipes equinovarus, Pectus carinatum,... OMIM:616145
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Malar flattening, Stillbirth, Short ribs, Narrow c... OMIM:600972
Kbg Syndrome
Rib fusion, Vertebral fusion, Oligodontia, Long philtrum, Macrotia, Radial deviation of finger, V... OMIM:148050
Charlie M Syndrome
Micrognathia, Triphalangeal thumb, Short philtrum, Thin vermilion border, Macrotia, Split hand, F... ORPHA:1406
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Cleft palate, Absent tibia, Radial cl... ORPHA:93322
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Delayed pubic bone ossif... ORPHA:93296
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Thin upper lip vermilion, Umbilical hernia, Triangular mouth, Conductive hear... OMIM:616331
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,... OMIM:271665
Cerebrofaciothoracic Dysplasia
Cleft palate, Wide mouth, Hemivertebrae, Bifid ribs, Cleft upper lip, Low-set, posteriorly rotate... ORPHA:1394
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Microdontia, Wide mouth, Cone-shaped epiphysis, Macroglossia, A... OMIM:266920
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Mandibular prognathia, Patchy distortion of vertebrae, Vert... ORPHA:1248
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Pectus excavatum, High palate, Short 5th metacarpal, Pierre-Robin ... OMIM:617877
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina... ORPHA:1797
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Prominent deltoid tuberosities, Short clavicles, Rhizomelia, Short ri... OMIM:610319
Acrofacial Dysostosis, Palagonia Type
Cutaneous finger syndactyly, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Cl... OMIM:601829
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Ellis-Van Creveld Syndrome
Hypodontia, Horizontal ribs, Capitate-hamate fusion, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebra... ORPHA:2635
Neu-Laxova Syndrome 2
Micrognathia, High palate, Cleft palate, Rocker bottom foot, Abnormality of the pinna, Low-set ea... OMIM:616038
Hydrolethalus
Micrognathia, Cleft palate, Arrhinencephaly, Anencephaly, Microphthalmia, Anophthalmia, Gingival ... ORPHA:2189
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Stillbirth, Median cleft palate... OMIM:119800
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Micrognathia, Cleft palate, Morphological abnormali... ORPHA:79113
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Short ribs, Cleft lip, Microretrognathia, Unicoronal synostosis, Flat acetabular ro... OMIM:616300
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal foot morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Abn... ORPHA:2990
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Beaking of vertebral bodies, Metaphyseal wi... OMIM:618961
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Pectus excavatum, Incomplete cleft of the upper lip, Abnormality of the pinna, Inte... ORPHA:77300
Thanatophoric Dysplasia, Type Ii
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187601
Distal Monosomy 7Q36
Micrognathia, Cleft palate, Pectus excavatum, Wide mouth, Holoprosencephaly, Symphalangism affect... ORPHA:1636
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Rocker bottom foot, Talipes equinovarus, Arthrogrypos... OMIM:616570
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Malar flattening, Unilateral cleft lip, Low... ORPHA:1919
Temple Syndrome
Micrognathia, High palate, Cleft palate, Short philtrum, Recurrent otitis media, Small hand, Bifi... OMIM:616222
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Short long bone, Microtia, Short ribs, Deep philtrum, Severe platyspondyly, Il... OMIM:613320
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cleft upper lip, Increased... OMIM:312150
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Osteomalacia, Pectus ... ORPHA:198
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Chronic otitis media, Finger syndactyly, Hearing impairment, Elbow dislocat... ORPHA:1507
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Polydactyly, Talipes equinovarus, Cleft upper lip, Anophthalmia, Po... OMIM:613885
Nail-Patella Syndrome
Cleft palate, Talipes equinovarus, Hypoplasia of first ribs, Quadriceps aplasia, Elongated radius... OMIM:161200
Andersen Cardiodysrhythmic Periodic Paralysis
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Thin ... OMIM:170390
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Diastasis recti, S... ORPHA:96334
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Abnormally large globe... ORPHA:363417
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Long upper lip, Talipes equinovarus, Hearing impairment, Limited elbow extension, E... ORPHA:93359
Aase-Smith Syndrome
Cleft palate, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormality of the pinna, Sl... ORPHA:916
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Cleft palate, Short ribs, Short uvula, Syndactyly, Short long bone, Flat acetabular roof, Agenesi... OMIM:614091
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Conductive hearing impairment, Micrognathia, Cleft palate, Abnormal vertebral m... ORPHA:261197
Campomelic Dysplasia
Shortening of all phalanges of the toes, Cleft palate, Talipes equinovarus, Hearing impairment, 1... OMIM:114290
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Large hands, Preaxial hand polydactyly, Scoliosis, Oral cleft ORPHA:85287
Seckel Syndrome 1
Cleft palate, Pes planus, Abnormally large globe, 11 pairs of ribs, Low-set ears, Elbow flexion c... OMIM:210600
Becker Nevus Syndrome
Pectus excavatum, Lower limb asymmetry, Pectus carinatum, Shoulder girdle muscle atrophy, Upper l... ORPHA:64755
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Hydrocephalus, Short toe, Low-set ... OMIM:269860
Smith-Magenis Syndrome
Broad palm, Everted upper lip vermilion, Morphological abnormality of the middle ear, Mandibular ... OMIM:182290
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Micrognathia, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, To... ORPHA:3082
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Genu valgum, Hydrocephalus, Bell-shaped t... OMIM:615630
Cooper-Jabs Syndrome
Conductive hearing impairment, Congenital diaphragmatic hernia, Malar flattening, Proximal placem... ORPHA:1488
Aarskog-Scott Syndrome
Cleft palate, Pes planus, Syndactyly, Hypoplasia of the maxilla, Large earlobe, Broad palm, Hypod... OMIM:305400
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Long philtrum, Congenita... OMIM:157800
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Cleft palate, 2... OMIM:239800
Blomstrand Lethal Chondrodysplasia
Malar flattening, Distal shortening of limbs, Short ribs, Aplastic clavicle, Short thorax, Synost... ORPHA:50945
Gordon Syndrome
Decreased muscle mass, Pectus excavatum, Cleft palate, High palate, Talipes, Finger syndactyly, H... ORPHA:376
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Pectus carinatum, Long philtrum, Broad thumb, Malar flattening, Narrow mout... ORPHA:261295
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Cubitus valgus, Malar flattening, Abnormally large globe, Low-set ears... OMIM:269300
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Malar... OMIM:108720
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Long philtrum... OMIM:617895
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Malar flattening, Absent frontal sinuses, Low-se... OMIM:211910
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Underfolded helix, B... OMIM:263540
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Cleft palate, Short ribs, Reduced bone mineral density, Cleft lip, Syn... ORPHA:1505
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Talipes, Abnorm... ORPHA:1842
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Atelosteogenesis, Type Ii
Cleft palate, Increased intervertebral space, Short middle phalanx of finger, Talipes equinovarus... OMIM:256050
Focal Dermal Hypoplasia
Duodenal atresia, Abnormal dental enamel morphology, Short ribs, Finger syndactyly, Hearing impai... ORPHA:2092
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... ORPHA:2780
Periventricular Nodular Heterotopia 7
Micrognathia, Cleft palate, 2-3 toe syndactyly, Hearing impairment, Flexion contracture OMIM:617201
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short long bone, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebr... OMIM:151210
Pallister-Hall Syndrome
Cleft palate, Neonatal death, Microglossia, Distal shortening of limbs, Syndactyly, Atresia of th... OMIM:146510
Trisomy 8Q
Micrognathia, High palate, Cleft palate, Myelomeningocele, Long thorax, Protruding ear, Bone cyst... ORPHA:1752
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short toe, Hypoplasia of the maxilla, Short phalanx of finger,... OMIM:212720
Split-Hand/Foot Malformation 3
Cleft palate, High palate, Abnormality of the pinna, Split hand, Narrow mouth, Camptodactyly, Hyp... OMIM:246560
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, High palate, Long palm, Pectus carinatum, Mandibular prognathia, Long foot, Kyp... OMIM:300676
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Hip contracture, Short long bone, Bowing of the long bones, Tooth malposition, Shor... OMIM:156400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hemivertebrae, Mandibular prognathia, Abnormal form of the vertebral bodies, Malar f... ORPHA:2180
Achondrogenesis, Type Ii
Abnormal foot morphology, Horizontal ribs, Cleft palate, Broad long bones, Hypoplastic iliac wing... OMIM:200610
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Deep philtrum, Open mouth, Everted lower lip vermilion, Prominence of the premaxilla OMIM:137550
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the ... ORPHA:2631
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence OMIM:172880
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, High palate, Cleft palate, Pectus excavatum, Hamartoma of tongue, P... OMIM:258860
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Bilateral cleft lip and palate, Broad palm, Cleft upper lip, Malar flattening, Intestinal malrota... OMIM:601165
Burn-Mckeown Syndrome
Conductive hearing impairment, Micrognathia, Cleft palate, 2-3 toe syndactyly, Short philtrum, Ma... OMIM:608572
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Cleft palate, Bowing of the long bones, Low-set, posteriorly rotated ears, Arachnodactyly, Sandal... ORPHA:2725
Femoral-Facial Syndrome
Cleft palate, Smooth philtrum, Talipes equinovarus, Hypoplastic acetabulae, Thin upper lip vermil... OMIM:134780
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Cubitus valgus, Disharmonious carpal bone, Genu valgum, Sensorineural hearing impair... OMIM:608154
Orofaciodigital Syndrome Xvii
High, narrow palate, Polydactyly, Short middle phalanx of the 2nd finger, Hearing impairment, Par... OMIM:617926
Richieri-Costa/Guion-Almeida Syndrome
Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, Mandibular prognathia, Cleft upper lip, ... OMIM:268850
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Mandibular prognathia, Irregular carpal bones, Cr... OMIM:252600
Trisomy 1Q
Toe syndactyly, Cleft palate, Anophthalmia, Congenital diaphragmatic hernia, Long foot, Short tho... ORPHA:261344
Endocrine-Cerebroosteodysplasia
Cleft palate, Shield chest, Malar flattening, Syndactyly, Hydrocephalus, Low-set ears, Micrognath... OMIM:612651
Microphthalmia, Syndromic 8
Cleft palate, Microphthalmia, Mandibular prognathia, Cleft upper lip, Widely-spaced maxillary cen... OMIM:601349
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Facial hypotonia, Drooling OMIM:618383
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Abnormal foot morphology, Cleft palate, Talipes equinovarus,... ORPHA:280
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Dental crowding, Vertebral fusi... ORPHA:313892
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Cleft palate, Abnormality of femur morphology, Limb undergrowth,... ORPHA:3429
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Epiphyseal stippling, Cleft... OMIM:308050
Hypophosphatasia, Infantile
Short lower limbs, Decreased calvarial ossification, Bowing of the legs, Increased susceptibility... OMIM:241500
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Micrognathia, Pectus excavatum, Rocker bottom foot, Cleft soft palat... OMIM:606851
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Ectopic anus, Wide mouth, Aplas... ORPHA:2549
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Short hum... OMIM:218600
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Malar flattening, Abnormal... OMIM:601559
Schneckenbecken Dysplasia
Cleft palate, Diaphyseal thickening, Lateral clavicle hook, Hypoplastic scapulae, Abnormal form o... ORPHA:3144
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, High palate, Cleft palate, Hand oligodactyly, Proximal radial head dislocation, Cle... OMIM:602418
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Cleft palate, Microphthalmia, Talipes equinovarus, Humeror... OMIM:251230
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... ORPHA:1452
Skraban-Deardorff Syndrome
Widely spaced teeth, Micrognathia, Recurrent otitis media, Thick upper lip vermilion, Hyperplasia... OMIM:617616
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Short philtrum, Talipes equinovarus, Rhizomelia, Abnormality of the pinna, S... OMIM:607143
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Narrow greater sciatic notch, Rhizomelia, Meta... OMIM:608940
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, High palate, Thin ribs, Talipes equinovarus, Phocomelia, Neonatal ... OMIM:266910
Shprintzen-Goldberg Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal form of the vertebral bodies, Pes ... ORPHA:2462
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Talipes equinovarus, Malar flattening, Joint contracture of the hand... OMIM:600920
Kyphomelic Dysplasia
Cleft palate, Talipes equinovarus, Short humerus, Femoral bowing, Low-set ears, Short femur, Flat... OMIM:211350
Triploidy
Meningocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Holoprosencephaly, Low-set, po... ORPHA:3376
Meier-Gorlin Syndrome 3
Thick lower lip vermilion, Micrognathia, Genu varum, Aplasia/Hypoplasia of the patella, Talipes e... OMIM:613803
Shprintzen-Goldberg Craniosynostosis Syndrome
Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvatum, Hydrocephalus, C... OMIM:182212
Jackson-Weiss Syndrome
Broad metatarsal, Abnormal palate morphology, 2-3 toe syndactyly, Broad hallux phalanx, Toe synda... ORPHA:1540
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Long palm, Hemivertebrae, Abnormal antitragus morphology, Abnormality of... ORPHA:2759
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Overfolded helix, Joint contracture of ... OMIM:300373
Seckel Syndrome 5
Hypodontia, Micrognathia, High palate, Oligodontia, Pes planus, Selective tooth agenesis, 11 pair... OMIM:613823
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... OMIM:601390
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Hypoplasia of the maxill... ORPHA:763
Mesomelic Limb Shortening And Bowing
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... OMIM:249710
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Osteolytic defects of the middle p... OMIM:259610
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Pectus excavatum, Talipes equinovarus, Long philtrum, Mandibular prognathia,... ORPHA:1101
Braddock Syndrome
Micrognathia, Pectus excavatum, Hemivertebrae, Overfolded helix, Missing ribs, Posteriorly rotate... ORPHA:52047
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... OMIM:615546
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Camptodactyly of finger, Sh... OMIM:612350
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Renpenning Syndrome
High, narrow palate, Pectus excavatum, Cleft palate, Skeletal muscle atrophy, Short philtrum, Rou... ORPHA:3242
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Cleft palate, Hip contracture, Talipes equin... OMIM:222600
Ritscher-Schinzel Syndrome 1
Micrognathia, Cleft palate, Hemivertebrae, Missing ribs, Anal atresia, Syndactyly, Hydrocephalus,... OMIM:220210
Robinow Syndrome
Syndactyly, Broad alveolar ridges, Low-set ears, Umbilical hernia, Triangular mouth, Micrognathia... ORPHA:97360
Cog1-Cdg
Irregularity of vertebral bodies, Smooth philtrum, Pierre-Robin sequence, Talipes equinovarus, Th... ORPHA:263508
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Osteoporosis, Low-set ears, Supernumerary ribs, Retrognathia, Abnormal numb... ORPHA:2958
Distal Monosomy 10P
Micrognathia, Cleft palate, Ectopic anus, Abnormality of the elbow, Low-set, posteriorly rotated ... ORPHA:1580
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Hearing... ORPHA:2712
Neurofaciodigitorenal Syndrome
Pectus excavatum, Triphalangeal thumb, Abnormality of the elbow, Abnormal antitragus morphology, ... ORPHA:2673
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Tapered finger, Camptodactyly of finger, Short palm, Hypoplasia... ORPHA:85279
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Microphthalmia, Short philtrum, Wide mouth, Abnormality of the calcaneus, Metaphyse... ORPHA:163966
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Syndactyly, Thin upper lip vermilion, Low-set ... OMIM:614701
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor... ORPHA:439822
Cardioacrofacial Dysplasia 1
Long thorax, Diastema, Short philtrum, Postaxial polydactyly, Limb undergrowth, Accessory oral fr... OMIM:619142
Zechi-Ceide Syndrome
Cleft palate, Oligodontia, Cleft upper lip, Short metatarsal, Long foot, Malar flattening, Sandal... OMIM:612916
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Bifid sternum, Anal ... ORPHA:63260
Opitz-Kaveggia Syndrome
Pyloric stenosis, Cleft palate, Abnormal sternum morphology, Joint contracture of the hand, Synda... OMIM:305450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Polydactyly, Brachydactyly OMIM:617405
Satb2-Associated Syndrome Due To A Pathogenic Variant
Micrognathia, Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Broad th... ORPHA:576283
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningocele, Missing r... OMIM:613686
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Deviation of finger, Shallow acetabu... OMIM:201000
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pes planus, Delayed eruption of teeth, Hypoplasia of the m... ORPHA:192
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Bowing of ... ORPHA:2097
Diaphanospondylodysostosis
Thoracic hypoplasia, Micrognathia, Absent in utero ossification of vertebral bodies, Cleft palate... OMIM:608022
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Talipes equinovarus, Short humerus, Low-set ears, Short femur, Irregular epiphyses,... OMIM:601560
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Pectus excavatum, Macroglossia, Abnormality of epiphys... ORPHA:1798
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Cleft palate, Anophthalmia, Low-set, posteriorly rotated ears, De... ORPHA:1104
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Pectus excavatum, Darwin tubercle of helix, Pes planus, Joint hypermobility, Unilat... OMIM:619122
Diaphanospondylodysostosis
Cleft palate, Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral... ORPHA:66637
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Conductive hearing impairment, Abnormal sacrum morphology, Abnormal f... ORPHA:93262
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Malar flattening, Low-set ears, Broad palm, Small epiphyses, High palate, Anterior rib cupping, M... OMIM:300232
Charge Syndrome
Arrhinencephaly, Cleft palate, Absent tibia, Duodenal atresia, Malar flattening, Hand polydactyly... OMIM:214800
Mullegama-Klein-Martinez Syndrome
Micrognathia, Smooth philtrum, Cleft palate, Short philtrum, Polydactyly, Long philtrum, Congenit... OMIM:301022
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Prominent calcaneus, Short toe, Radial deviation of the hand, Short tibi... ORPHA:2756
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Abnormal form of the vertebral bodies, Mal... ORPHA:2769
Subaortic Stenosis--Short Stature Syndrome
Pectus excavatum, Diastema, Shield chest, Microphthalmia, Broad finger, Short upper lip, Broad to... OMIM:271960
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Smooth philtrum, Lower limb asymmetry, Long philtrum, Postaxial polydactyly, Broad ... OMIM:615761
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, Pes planus, Abnormally large ... OMIM:245600
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Complete duplication of thumb p... OMIM:141400
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Platyspondyly, Sensorineural he... ORPHA:90653
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ankle swelling,... OMIM:166300
Cleft Palate-Large Ears-Small Head Syndrome
Micrognathia, Cleft palate, Skeletal muscle atrophy, Pectus excavatum, Ulnar deviation of finger,... ORPHA:2013
Achondrogenesis Type 1B
Micrognathia, Talipes equinovarus, Long philtrum, Short thorax, Short foot, Narrow chest, Abnorma... ORPHA:93298
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Micrognathia, Short 4th metacarpal, Oligodontia, Abnormal form of the verteb... ORPHA:1787
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Short ribs, Cervical spinal canal stenosis, Rhizomelic arm shortening, Small ce... ORPHA:397715
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abn... ORPHA:1427
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Slender finger, Anisospondyly, Increased bone mineral density, Flat acetabular roof... ORPHA:163649
Focal Dermal Hypoplasia
Cleft palate, Oligodontia, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delayed erupti... OMIM:305600
Keipert Syndrome
Short hallux, Broad hallux phalanx, Broad thumb, Broad distal phalanx of finger, Tented upper lip... ORPHA:2662
Rhizomelic Syndrome, Urbach Type
Micrognathia, Cleft palate, High palate, Triphalangeal thumb, Abnormality of the knee, Abnormalit... ORPHA:3098
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, High palate, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, ... OMIM:218000
Chromosome 1P36 Deletion Syndrome, Distal
Asymmetry of the ears, Malar flattening, Hearing impairment, 11 pairs of ribs, Hydrocephalus, Cam... OMIM:607872
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib mor... ORPHA:1513
Recombinant 8 Syndrome
Cleft palate, Chronic otitis media, Abnormal sternum morphology, Hearing impairment, Camptodactyl... ORPHA:96167
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Abnormal intramembranous ossification, Short iliac bo... ORPHA:3003
Branchiogenic-Deafness Syndrome
Branchial cyst, Abnormal foot morphology, Branchial fistula, Sensorineural hearing impairment, Ab... OMIM:609166
Lateral Meningocele Syndrome
Smooth philtrum, Malar flattening, Low-set ears, Umbilical hernia, Meningocele, Conductive hearin... OMIM:130720
Sprengel Deformity
Shoulder muscle hypoplasia, Cleft palate, Torticollis, Abnormality of the shoulder girdle muscula... ORPHA:3181
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Stickler Syndrome, Type I
Conductive hearing impairment, Morbus Scheuermann, Cleft palate, Pectus excavatum, Pierre-Robin s... OMIM:108300
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... ORPHA:958
Wolf-Hirschhorn Syndrome
Cleft palate, Single transverse palmar crease, Talipes equinovarus, Abnormal form of the vertebra... OMIM:194190
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Conductive hearing impairment, Abnormality of the ulna, Cleft palate, High pal... ORPHA:1307
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pseudoarthrosis, Pectus excavatum, Torticollis, Missing ribs, Short ribs, Scoliosis OMIM:618155
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sh... OMIM:617102
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Craniosynostosis, Malar flattening, Finger syndactyly, Split hand, Ab... ORPHA:2145
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Pectus excavatum, Abnormal metacarpal morphology, Pectus carinatum, L... ORPHA:166100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, High palate, Pectus excavatum, Short philtrum, Broad thumb, Arachnodactyly, Deep ph... OMIM:309520
Campomelic Dysplasia
Cleft palate, Talipes equinovarus, Hearing impairment, 11 pairs of ribs, Femoral bowing, Low-set ... ORPHA:140
Odontochondrodysplasia 1
Genu varum, Delayed eruption of teeth, Genu recurvatum, Short long bone, Flat acetabular roof, Sh... OMIM:184260
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Rickets, Fibrous dysplasia of the bones, Abnormal bone structure, Abnorm... ORPHA:249
Kagami-Ogata Syndrome
Long clavicles, Micrognathia, Thin ribs, Long philtrum, Long fingers, Kyphoscoliosis, Limb underg... OMIM:608149
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Bilateral conductive hearing impairment, Oligodontia of primary te... OMIM:216300
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Ky... OMIM:618658
Acrodysostosis
Spinal canal stenosis, Abnormality of the ulna, Cone-shaped epiphysis, Open bite, Epiphyseal stip... ORPHA:950
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Narrow greater sciatic notch, Metaphyseal i... OMIM:609052
Au-Kline Syndrome
Pectus excavatum, High palate, Cleft palate, Oligodontia, Postaxial polydactyly, Craniosynostosis... OMIM:616580
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Abnormal foot morphology, Pectu... OMIM:263750
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Low-set ears, Rudimentary fibula, E... OMIM:200980
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... ORPHA:435638
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, High palate, Thin bony cor... ORPHA:85184
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Talipes equinovarus, Facial diplegia, Long fingers, Generalized amy... ORPHA:169186
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... ORPHA:2345
Moebius Syndrome
Talipes equinovarus, Lower limb undergrowth, Pes planus, Syndactyly, Camptodactyly, Abnormality o... OMIM:157900
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micrognathia, Deep palmar crease, Torticollis, Temporomandibular joint ankyl... ORPHA:2872
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Cleft palate, Lateral clavicle hook, Hamartoma of tongue, Polysyndactyly of hall... OMIM:263520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Smooth philtrum, Talipes equinovarus, Cubitus valgus, Thin upper lip vermilion, Hypoplasia of the... OMIM:300534
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Tapered finger, Short toe, Glossoptosis, Abnormal mandible morph... ORPHA:3201
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Phocomel... ORPHA:245
Three M Syndrome 2
High palate, Protruding ear, Thin ribs, Pectus carinatum, Long philtrum, Malar flattening, Promin... OMIM:612921
3C Syndrome
High, narrow palate, Micrognathia, Cleft palate, Ectopic anus, Hemivertebrae, Missing ribs, Intes... ORPHA:7
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Low-set, ... ORPHA:2972
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormal intestine morphology, Abnormality of the knee, Congenital diaphragmatic he... ORPHA:1834
Myhre Syndrome
Cleft palate, Skeletal muscle hypertrophy, Gingival cleft, Hearing impairment, Hypoplasia of the ... ORPHA:2588
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Cleft palate, High palate, Rudimentary postaxial polydactyly of hands, Oligodontia,... OMIM:600325
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Cleft palate, Hearing impairment, Non-midline cleft lip, Protruding ear, Scoliosis ORPHA:85273
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia... OMIM:300863
Melnick-Needles Syndrome
Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Cone-shaped epiphyses... ORPHA:2484
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Short thorax, Hearing impairment, Reduced bone ... ORPHA:582
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Short distal phalanx of finger, Osteolysis ORPHA:2776
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Smooth philtrum, Limb hypertonia, Overfolded helix, Hearing impairment, Broad hallux, Low-set ear... ORPHA:481152
Yunis-Varon Syndrome
Pyloric stenosis, Bilateral external ear deformity, Arrhinencephaly, Short middle phalanx of fing... ORPHA:3472
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mou... ORPHA:1529
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Cleft palate, Long upper lip, Talipes equinovarus, Malar flattening, Pes planus, E... OMIM:271640
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Holoprosencephaly 9
Bilateral cleft lip and palate, Cleft palate, Microphthalmia, Short philtrum, Cleft upper lip, Ho... OMIM:610829
Cranioectodermal Dysplasia 2
Cleft palate, Smooth philtrum, Short ribs, Syndactyly, Low-set ears, Micrognathia, High palate, M... OMIM:613610
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Mandibular prognathia, Diaphyseal sclerosis, Hearing impairment,... OMIM:122860
8Q22.1 Microdeletion Syndrome
Underfolded helix, Long philtrum, Craniosynostosis, Abnormality of the pinna, Low-set ears, Finge... ORPHA:178303
Lateral Meningocele Syndrome
Smooth philtrum, Abnormal form of the vertebral bodies, Malar flattening, Low-set ears, Atresia o... ORPHA:2789
Oculomaxillofacial Dysostosis
Micrognathia, Cleft palate, Abnormality of the humerus, Adducted thumb, Aplasia/Hypoplasia affect... ORPHA:1794
Mend Syndrome
2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Kyphosis, Overlapping fingers, Hydroc... OMIM:300960
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Low-set, posteriorly... ORPHA:246
Oculocerebrocutaneous Syndrome
Cleft palate, Microphthalmia, Anophthalmia, Congenital hip dislocation, Abnormal thorax morphology OMIM:164180
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Short distal phalanx of toe, Epiphyseal s... ORPHA:79345
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Broad toe, Short ribs, Broad distal phalanges of all fingers, Short toe, Sh... OMIM:218330
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Cleft palate, Malar flattening, Split hand, Abnormality of the ear,... OMIM:183700
Microphthalmia, Syndromic 12
Micrognathia, Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia, Retrognathia OMIM:615524
Cdags Syndrome
Cleft palate, Short clavicles, Rectovaginal fistula, Malar flattening, Short ribs, Anal atresia, ... OMIM:603116
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Micrognathia, Cleft palate, Temporomandibular joint ankylosis, Mic... ORPHA:141152
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, T... ORPHA:193
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cutaneous finger syndactyly, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality ... OMIM:225060
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Lethal Faciocardiomelic Dysplasia
Radial club hand, Microglossia, Fibular hypoplasia, Hypoplasia of the radius, Sandal gap, Short 5... ORPHA:1972
3M Syndrome
Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Protruding ear, Hypop... ORPHA:2616
Dyssegmental Dysplasia With Glaucoma
Cleft palate, Broad long bones, Hip contracture, Malar flattening, Platyspondyly, Delayed epiphys... OMIM:601561
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Platyspo... OMIM:259440
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Hearing impairment, Osteoporosis, Kyphosi... OMIM:253000
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Protruding ear, Short philtrum, Rocker bottom foot, Adducted thumb, Mandibular p... OMIM:618622
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Thi... ORPHA:2015
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ... ORPHA:99772
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... ORPHA:397973
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Bilateral external ear deformit... ORPHA:93307
Nemaline Myopathy 2
Cleft palate, Calf muscle pseudohypertrophy, Low-set ears, High palate, Weakness of facial muscul... OMIM:256030
Zttk Syndrome
Low-set ears, Hypoplasia of the maxilla, Protruding ear, Intestinal atresia, High palate, Kyphosi... OMIM:617140
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormality of the philtrum, Abnormal clavicle morphology, Low-set ears, Ab... ORPHA:276422
Achondrogenesis Type 1A
Micrognathia, Long philtrum, Multiple rib fractures, Short thorax, Short foot, Narrow chest, Recu... ORPHA:93299
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Broad thumb, Craniosynostosis, Malar flattening, A... OMIM:101120
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Bifid uvula, Glossoptosis, Bilateral conductive hearing impairme... OMIM:615706
Otopalatodigital Syndrome Type 2
Cleft palate, Pierre-Robin sequence, Oligodontia, Malar flattening, Hearing impairment, Hydroceph... ORPHA:90652
Genitopalatocardiac Syndrome
Micrognathia, Cleft palate, Congenital diaphragmatic hernia, Kyphosis, Downturned corners of mout... ORPHA:2075
Rosselli-Gulienetti Syndrome
Cutaneous finger syndactyly, Hypodontia, Cleft palate, Microdontia, Anteverted ears, Cleft upper ... OMIM:225000
Premature Aging Syndrome, Penttinen Type
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Osteopenia, Sensorineural hearing... OMIM:601812
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Pierre-Robin sequence, Long fingers, Malar flatt... OMIM:604841
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Microphthalmia, Talipes equinovarus, Cleft upper lip, Congenital diaphragmatic hern... OMIM:612530
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Anencephaly, Postaxial polydactyly, Congenital diaphragmatic hernia, Aplastic clavi... OMIM:616546
Acrocallosal Syndrome
Cleft palate, Smooth philtrum, Finger syndactyly, Hearing impairment, Low-set ears, Microretrogna... OMIM:200990
Emanuel Syndrome
Cleft palate, Broad jaw, Delayed eruption of teeth, Hearing impairment, Hydrocephalus, Low-set ea... ORPHA:96170
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Hyperphosphatasia With Mental Retardation Syndrome 1
Aganglionic megacolon, Cleft palate, Short philtrum, Abnormally large globe, Tapered finger, Mand... OMIM:239300
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Cleft palate, High palate, Abnormality of the odontoid process, Pectus carinatu... OMIM:609654
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Malar flattening, Abnormal dental enamel morphology, Hypop... ORPHA:3258
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, Microphthalmia, Rib exostoses, Supernumerary tooth, Malar flat... ORPHA:2108
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Pectus excavatum, Abnormal clavicle morphology, Low-set ears, Fused cervical verteb... ORPHA:2522
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Malar flattening, Delayed calcaneal oss... OMIM:183900
Craniofacial Microsomia
Conductive hearing impairment, Micrognathia, Cleft palate, Microphthalmia, Wide mouth, Hemiverteb... OMIM:164210
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Kyphosis, Bifid ... OMIM:258850
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy, Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Lim... OMIM:127300
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Hearing impairment, Osteoporosis, Kyphosi... OMIM:253010
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Abnormal form of the vertebral bodies, Abnormal dental enamel morpho... ORPHA:2710
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Abnormal form of the vertebral bodies, Cubitus valgus, Camptodactyly of finger, Sh... ORPHA:1327
Orofacial Cleft 13
Micrognathia, Oligodontia, Cleft soft palate, Malar flattening, Retrognathia OMIM:613857
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Hypoplas... OMIM:300106
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Pes planus, Hearing impairment, Broad hallux, Thin upper lip vermilion, Thora... ORPHA:508498
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Microphthalmia, Septo-optic dysplasia, Missing ribs, Anal atresia, Aplasia/Hypoplas... ORPHA:3301
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Cleft palate, A... OMIM:601076
Trisomy 9P
Protruding ear, Macrotia, Kyphosis, Clinodactyly of the 5th finger, Sacral dimple, Downturned cor... ORPHA:236
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Ab... OMIM:214300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Cleft palate, Smooth philtrum, Talipes equinovarus, Long hallux, Narrow palm, Pectus carinatum, O... OMIM:309583
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, High palate, Pectus excavatum, Congenital diaphragmatic hernia, Abnormality of the ... OMIM:614437
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin r... OMIM:259420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodontia, Tracheobr... OMIM:619184
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Limb hypertonia, Mandibular prognat... ORPHA:90322
Brachydactyly, Type A4
Talipes calcaneovalgus, Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger... OMIM:112800
Larsen Syndrome
Cleft palate, Talipes equinovarus, Short metatarsal, Spatulate thumbs, Malar flattening, Bipartit... OMIM:150250
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Pes planus, Delayed eruption of teeth, Protrusio acetabuli, H... OMIM:259600
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Sensor... DECIPHER:46
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Micrognathia, Cleft palate, Anencephaly, Talipes, Mandibular prognathia, Aplasia/Hyp... ORPHA:1908
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Cleft palate, Pierre-Robin sequence, Malar flattening, Epiphyseal dysplasia, Premature osteoarthr... OMIM:215150
Frontometaphyseal Dysplasia
Cleft palate, Oligodontia, Short metatarsal, Pes valgus, Joint contracture of the hand, Hearing i... ORPHA:1826
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Polydactyly, Syndactyly, Median cleft lip, Short tibia OMIM:300484
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... OMIM:250220
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ... OMIM:231070
Ulbright-Hodes Syndrome
Bilateral external ear deformity, Long upper lip, Talipes equinovarus, Phocomelia, Short ribs, Hy... ORPHA:3404
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Fifth finger distal phalanx clinodactyly, Delayed eruption of ... OMIM:257850
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Cleft palate, Mandibular prognathia, Cleft upper lip, Congeni... ORPHA:894
Hypophosphatasia, Childhood
Carious teeth, Myopathy, Bowing of the legs, Craniosynostosis, Rachitic rosary, Premature loss of... OMIM:241510
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft palate, Cleft upper lip, Limb undergrowth, Joint contracture of the hand, Overlapping finge... OMIM:601016
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Micrognathia, Cleft palate, Finger syndactyly, Split hand, Non-midline cleft lip,... ORPHA:1300
Baraitser-Winter Syndrome 1
Microphthalmia, Wide mouth, Long philtrum, Cleft upper lip, Overfolded helix, Duplication of phal... OMIM:243310
Cerebrocostomandibular Syndrome
Malar flattening, 11 pairs of ribs, Rib gap, Short humerus, Low-set ears, Elbow flexion contractu... OMIM:117650
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid distal phalanx of the thumb, Partial duplication of the dist... ORPHA:2669
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Cleft palate, Conductive hearing impairment, Short philtrum, Mandib... ORPHA:819
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Proximal placement of thumb, Hypoplasia... OMIM:268305
Holoprosencephaly-Postaxial Polydactyly Syndrome
Micrognathia, Cleft palate, Microphthalmia, Talipes, Holoprosencephaly, Low-set, posteriorly rota... ORPHA:2166
Intellectual Developmental Disorder, X-Linked 90
High palate, Malar flattening, Bifid uvula, Narrow chest OMIM:300850
Simpson-Golabi-Behmel Syndrome, Type 1
Cleft palate, Short greater sciatic notch, Talipes equinovarus, Broad toe, Posterior helix pit, S... OMIM:312870
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Right ventricular hypertrophy, Low-set ears, Hearing impairment, Short distal phala... OMIM:614261
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals OMIM:618724
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft palate, Cleft upper lip, Abnormal vertebral segment... OMIM:244600
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Micrognathia, Cleft palate, Pectus excavatum, Microdontia, Microphthalmia, Tapered... OMIM:616734
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finger s... ORPHA:794
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Broad palm, Cleft upper lip, Broad foot, Acromelia, Oral cleft OMIM:233430
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Enamel hypoplasia, Downturned corners of mouth, Abnormal rib... ORPHA:2643
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Micrognathia, High palate, Cleft palate, Short philtrum, Recurrent otitis media... ORPHA:96184
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Pectus excavatum, High palate, Congenital diaphragmatic hernia, Arachnodactyly, In... OMIM:617602
Chromosome 15Q25 Deletion Syndrome
Pectus excavatum, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Long fingers, T... OMIM:614294
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Supernumerary tooth, Craniosynostosis, Delayed eruption of tee... OMIM:614188
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Pectus excavatum, Kyphoscoliosis, Supernumerary tooth, Delayed eruptio... OMIM:264475
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Short distal phalanx of finger, Hypoplasia of the maxilla, Lower limb muscle we... OMIM:300266
Otodental Syndrome
Carious teeth, Pulp calcification, Microphthalmia, Lens coloboma, Long philtrum, Odontoma, Abnorm... ORPHA:2791
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Posteriorly rotated ears, Abnormal rib cag... OMIM:608406
Oculocerebrocutaneous Syndrome
Wide mouth, Talipes, Congenital diaphragmatic hernia, Missing ribs, Congenital hip dislocation, F... ORPHA:1647
Craniolenticulosutural Dysplasia
Carious teeth, Posterior wedging of vertebral bodies, Smooth philtrum, High palate, Microdontia, ... ORPHA:50814
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Bilateral cleft lip and palate, Microphthalmia, Neural tube ... OMIM:600776
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Tapered finger, Macrotia, Tapered toe, Sensorineural hearing impairment, Sacral d... ORPHA:544488
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Cleft palate, Cleft upper lip, Short 5th finger, Sandal gap, Tented upper lip... OMIM:600987
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Malar flattening, Short toe, Anterior scalloping of vertebral bodies, Single inte... OMIM:611717
Bohring-Opitz Syndrome
Cleft palate, Syndactyly, Short toe, Camptodactyly, Low-set ears, Broad alveolar ridges, Deep pla... OMIM:605039
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short ribs, Narrow chest, Short long bone, Scoliosis, Brachydactyly OMIM:613819
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs OMIM:211120
Cerebrooculonasal Syndrome
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Long philtrum, Anoph... ORPHA:66625
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Pectus cari... ORPHA:93351
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Skeletal muscle atrophy, Abnormality of the elbow, Abnormal form of the vertebral b... ORPHA:1486
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Long philtrum, Short ... OMIM:190351
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Malar flattening, Hydrocephalus, Low-set ears, Umbilical hernia, High palate, Rocker b... OMIM:612582
Vacterl With Hydrocephalus
Micrognathia, Arrhinencephaly, Microphthalmia, Hemivertebrae, Anophthalmia, Abnormal form of the ... ORPHA:3412
1P36 Deletion Syndrome
Pyloric stenosis, Abnormal intestine morphology, Foot polydactyly, 11 pairs of ribs, Camptodactyl... ORPHA:1606
Cleft Lip With Or Without Cleft Palate
Chronic sinusitis, Recurrent otitis media, Hearing impairment, Non-midline cleft palate, Non-midl... ORPHA:1991
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Micrognathia, Cleft palate, Mandibular prognathia, Bifid uvula, Retrognathia, Camptodactyly of fi... ORPHA:2521
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hand polydactyly OMIM:236110
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Cleft palate, Genu varum, Epiphyseal dysplasia, Pes planus, Toe clino... OMIM:615777
Diamond-Blackfan Anemia 6
Micrognathia, Cleft palate, Triphalangeal thumb, Cleft upper lip, Bifid uvula, Short thumb, Retro... OMIM:612561
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, High palate, Shortening of all phalanges of fingers, Cone-shaped epiphysis, Long up... ORPHA:77258
Rapp-Hodgkin Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Recurrent o... OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Small hand, Malar flattening, Short foot, Abnormal hand morphology OMIM:300261
Acrofrontofacionasal Dysostosis 1
Pectus excavatum, Cleft palate, Microphthalmia, Wide mouth, Oligodontia, Mandibular prognathia, C... OMIM:201180
Frontorhiny
Cleft palate, Microphthalmia, Hypoplastic frontal sinuses, Low-set, posteriorly rotated ears, Bif... ORPHA:391474
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Malar flattening, Narrow mouth, Clinodactyly OMIM:615984
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Malar flattening, Hearing impairment, Synostos... ORPHA:2496
Branchiootic Syndrome
Conductive hearing impairment, Micrognathia, Cleft palate, Morphological abnormality of the middl... ORPHA:52429
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Cleft palate, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, De... OMIM:184250
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Roberts Syndrome
Cleft palate, Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement o... ORPHA:3103
Monosomy 18P
Carious teeth, Micrognathia, Cleft palate, Hypodontia, Short philtrum, Pectus excavatum, Protrudi... ORPHA:1598
Rhizomelic Chondrodysplasia Punctata, Type 1
Micrognathia, Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Rhizom... OMIM:215100
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Abnormal muscle fiber morphology, Protruding ear, Skeletal muscle atr... ORPHA:3068
Coffin-Siris Syndrome 6
High, narrow palate, Micrognathia, Cleft palate, Pectus excavatum, Short philtrum, Conductive hea... OMIM:617808
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Hartsfield Syndrome
Cleft palate, Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Craniosy... ORPHA:2117
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Cleft palate, Dysplasia of the femoral head, He... ORPHA:94068
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormality of the lower limb, Abnormal hand bone ossific... OMIM:300244
Chromosome 18Q Deletion Syndrome
Cleft palate, Talipes equinovarus, Malar flattening, Proximal placement of thumb, Pes planus, Thi... OMIM:601808
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cleft palate, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... ORPHA:3320
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Smooth philtrum, Cleft palate, 2-3 toe syndactyly, Lower limb asymmetry, Long philt... ORPHA:404440
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Tooth malposition, Microsp... OMIM:277600
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hypodontia, Short clavicles, Horizontal ribs, Accessory oral frenulum, Supernumerary tooth, Short... OMIM:617088
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Bilateral cleft lip and palate, Micrognathia, Hypodontia, Toe syndactyly, Cleft up... ORPHA:3253
Ear-Patella-Short Stature Syndrome
Cleft palate, Aplastic clavicle, Hearing impairment, Camptodactyly of finger, Low-set ears, Atres... ORPHA:2554
Myhre Syndrome
2-3 toe syndactyly, Cleft palate, Skeletal muscle hypertrophy, Malar flattening, Hearing impairme... OMIM:139210
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Tarp Syndrome
Micrognathia, High palate, Cleft palate, Pectus excavatum, Talipes equinovarus, Postaxial polydac... OMIM:311900
Autosomal Recessive Amelia
Amelia, Micrognathia, Amelia involving the upper limbs, Non-midline cleft lip, Acromelia of the l... ORPHA:1027
Fetal Alcohol Syndrome
Micrognathia, Cleft palate, Smooth philtrum, Microdontia, Microphthalmia, Congenital diaphragmati... ORPHA:1915
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Microphthalmia, Cleft soft palate, Facial hypotonia, Esophageal at... OMIM:614526
Cole-Carpenter Syndrome
Communicating hydrocephalus, Micrognathia, Bowing of the long bones, Abnormal form of the vertebr... ORPHA:2050
Stickler Syndrome
Cleft palate, Chronic otitis media, Abnormal form of the vertebral bodies, Malar flattening, Abno... ORPHA:828
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flatten... OMIM:311300