| 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 |
