| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... |
OMIM:256050 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Large face, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Mandibular prognathia, Hyperl... |
ORPHA:2831 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... |
ORPHA:40 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... |
OMIM:609324 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... |
ORPHA:2501 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectus carinatum, Irregular ve... |
OMIM:609223 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
| Thoracomelic Dysplasia |
|
Round face, Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thora... |
ORPHA:1803 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal brid... |
OMIM:151210 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Vertebral wedging, Platyspondyly, Internal... |
OMIM:616583 |
| Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... |
OMIM:265900 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... |
ORPHA:85166 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Overhanging nasal tip, Hypoplasia of the o... |
ORPHA:85172 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... |
OMIM:618961 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Hearing impairment, Micrognathia, Capitate-hamate fusion, Sho... |
OMIM:614078 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped... |
OMIM:614524 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Short neck, Bowing of the legs, Abnormal hand... |
OMIM:200600 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Coarse facial features, Micrognathia, Carious teeth, Flared metaph... |
ORPHA:93346 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Sensorineural... |
OMIM:184840 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Narrow face, Abnormal form of the vertebral bodies, Pect... |
ORPHA:1327 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... |
OMIM:156510 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Coarse facial features, Depressed nasal... |
OMIM:313420 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Cone-shaped ... |
ORPHA:71267 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Genu valgum, Irregular vert... |
ORPHA:250984 |
| Odontochondrodysplasia 1 |
|
Narrow face, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of f... |
OMIM:184260 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... |
ORPHA:1452 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta... |
ORPHA:99642 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Flat face, Thoracic... |
ORPHA:156728 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Multiple enchondromatosis, Vertebral seg... |
ORPHA:85198 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyses, Lumbar scoli... |
OMIM:620269 |
| Fibrochondrogenesis |
|
Round face, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fing... |
ORPHA:2021 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Long face, Brachydactyly, Narrow face, Mandibular prognathia, Hyperlordosis,... |
ORPHA:2511 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Depressed nasal bridge, Rhizomelia, Kyphoscoliosis, Micrognathia, Sensorineural hearing impairmen... |
OMIM:215100 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Abnormal calcification of the carpal bones, Aplasia of the 4th finger, ... |
ORPHA:93320 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Narrow chest, Death in childhood, Dyspla... |
OMIM:613320 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... |
OMIM:608940 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... |
OMIM:156550 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Narrow face, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:1529 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... |
OMIM:617974 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Brachydactyly, Apl... |
OMIM:146000 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Narrow face, Short neck, Micrognathia, Hemivertebrae, Pectus carina... |
ORPHA:958 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... |
OMIM:602471 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nose, Kyphosis, Irregu... |
OMIM:234250 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Depressed nasal bridge, Ant... |
OMIM:215150 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
| Grant Syndrome |
|
Large face, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib morpholo... |
ORPHA:2097 |
| Emery-Nelson Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... |
ORPHA:1927 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... |
ORPHA:1856 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Narrow pelvis bone, Narrow chest, Scoliosis |
OMIM:602484 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Coarse facial features, Hyperlordosis, Hearing abnormality, Abnormal f... |
ORPHA:577 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ... |
OMIM:155050 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... |
ORPHA:2310 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Conductive hearing impairment, Short p... |
OMIM:132450 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Microg... |
OMIM:255800 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizo... |
OMIM:612813 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... |
OMIM:611717 |
| Ck Syndrome |
|
Narrow face, Posteriorly rotated ears, Prominent nasal bridge, Hyperlordosis, Micrognathia, Kypho... |
OMIM:300831 |
| Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Facial asymmetry, Hyperlordosis, Short n... |
ORPHA:710 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Depressed nasal bridge, Anteve... |
OMIM:612921 |
| Campomelic Dysplasia |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Micrognathia, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h... |
ORPHA:94068 |
| Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Platyspondyly, Talipes equinovarus, Scoliosis, Malar flattening |
ORPHA:85174 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
| Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Sh... |
ORPHA:93298 |
| Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v... |
OMIM:615777 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Short neck, Abnormal thumb morph... |
ORPHA:1842 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia, Micromelia, Micrognathia... |
OMIM:224410 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Rhizomelia, Short neck, Micrognat... |
OMIM:264180 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno... |
ORPHA:429 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Micromelia, Short neck, Micrognathia, Short thorax, Sho... |
ORPHA:93299 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:210720 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hyp... |
ORPHA:1798 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Long face, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Micrognathia, Bulbous ... |
OMIM:613604 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Larsen-Like Syndrome |
|
Kyphoscoliosis, Wide anterior fontanel, Conductive hearing impairment, Dental malocclusion, Absen... |
OMIM:608545 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Acromicric Dysplasia |
|
Short metacarpal, Round face, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Small hand,... |
ORPHA:969 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Protruding ear, Pectus carinatum, Hypoplastic iliac wing, S... |
ORPHA:93315 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... |
OMIM:600920 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Short neck, Hy... |
OMIM:273750 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Short nose, Fla... |
OMIM:616910 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short neck, Coxa valga, Wide an... |
ORPHA:163649 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coarse facial features, Anteverted nares, Abnormal dental enamel morpho... |
ORPHA:582 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hearing impairment, Micromelia, Abnormal sacroiliac joint morphology, Kyp... |
ORPHA:2655 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Oval face, Flat a... |
ORPHA:3168 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Abnormal pelvic girdle ... |
ORPHA:2370 |
| Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Dentinogenesis imperfecta, Vertebral wedging, Abnormal p... |
OMIM:610967 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abn... |
ORPHA:177 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Posteriorly rotated ears, Hypoplastic ischia, Bowing of the legs, ... |
ORPHA:1865 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Missing ribs, Choanal sten... |
OMIM:619859 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Malar... |
ORPHA:217340 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Anteverted nares, Fractured radius, Posteriorly rotated ears... |
OMIM:616897 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c... |
OMIM:119600 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Coarse facial features, Ovoid vertebral bodies, ... |
OMIM:619451 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Sandal gap, Hyperlordosis, Postaxial pol... |
OMIM:615761 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Short neck, Hy... |
ORPHA:93333 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:604864 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Coarse facial features, Depressed nasal bridge, Hyperlordosis, Sensorineur... |
ORPHA:557003 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... |
ORPHA:93316 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... |
ORPHA:457395 |
| Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Dental malocclusion, Scoliosis... |
OMIM:619719 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... |
ORPHA:2994 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Camptodactyly of finger, Kyp... |
OMIM:612350 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Hip ... |
OMIM:618853 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... |
OMIM:602557 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... |
OMIM:108720 |
| Gm1-Gangliosidosis, Type Iii |
|
Coarse facial features, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking o... |
OMIM:230650 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Sacral dimple, Protruding ear, Short foot, Low-set ears, Short palm, Flat face, Brachydactyly |
OMIM:618522 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Platyspondyly, Abnormal epiphysis mo... |
ORPHA:90653 |
| Three M Syndrome 3 |
|
Anteverted nares, Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Protruding... |
OMIM:614205 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Thoracic scoliosis, Short neck, Pectus excavatum, Shield chest, Low-set ears, Flat face |
OMIM:616994 |
| Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... |
ORPHA:1512 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Hyperlordosis, Micrognathia, Conductive hear... |
ORPHA:2780 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossificati... |
ORPHA:93352 |
| Lamb-Shaffer Syndrome |
|
Depressed nasal bridge, Overlapping toe, Posteriorly rotated ears, Long fingers, Bulbous nose, Ve... |
OMIM:616803 |
| Distal Monosomy 7Q36 |
|
Large face, Short neck, Micrognathia, Pectus excavatum, Bulbous nose, Symphalangism affecting the... |
ORPHA:1636 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Senso... |
ORPHA:79107 |
| Ck Syndrome |
|
Long toe, Microretrognathia, Narrow face, Lumbar hyperlordosis, Posteriorly rotated ears, Promine... |
ORPHA:251383 |
| Acrocephalopolydactyly |
|
Short neck, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, Short nose, Thora... |
ORPHA:221054 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Low-set ears, Flat face |
OMIM:614859 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Round face, Micromelia, Short neck, Micrognathia, Met... |
OMIM:224400 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Hearing impairment, Micromelia, Hy... |
ORPHA:1860 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short neck, Micrognathia, Short nose, Abnorm... |
ORPHA:2015 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Abnormal facial shape, Short 5th finger, Clinodactyly, Short nose |
OMIM:300577 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Abn... |
ORPHA:2867 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Death in infa... |
OMIM:617425 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
| Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Stickler Syndrome, Type Iv |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Sensorineural hearing impairment, Genu valg... |
OMIM:614134 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Protruding ear, Clinodactyly |
OMIM:610313 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W... |
ORPHA:2107 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Narrow face, Symphalangism affecting the phalanges of the hand, Hyp... |
OMIM:186500 |
| Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Hearing impairment, Micromelia, Kyphosis, Short thorax, Platyspondyly, Na... |
ORPHA:93274 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Broad femora... |
OMIM:609325 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Cantu Syndrome |
|
Coarse facial features, Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short n... |
OMIM:239850 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... |
OMIM:211350 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Micrognathia, Fractures of the long bones, Platyspon... |
ORPHA:319195 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Beaded ribs, Hypoplasia of the maxilla, Depressed nasal ridge, Tetrapho... |
OMIM:215140 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Accessory carpal bones, Vertebral segme... |
ORPHA:503 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cervical kyphosis, Tapered finger, Short neck, Broad nasal tip, Small hand... |
ORPHA:401923 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
| Acromicric Dysplasia |
|
Short metacarpal, Round face, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Cone-shaped... |
OMIM:102370 |
| Achondrogenesis |
|
Anteverted nares, Micromelia, Short neck, Micrognathia, Short thorax, Narrow chest, Short nose, F... |
ORPHA:932 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly, Retrognathi... |
OMIM:617352 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met... |
ORPHA:296 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Sensorineural hearing impairment, Ulnar deviation of finger, Radioulna... |
ORPHA:921 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
| Familial Anetoderma |
|
Abnormal tibia morphology, Lumbar hyperlordosis |
ORPHA:228277 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Short neck, Micrognathia, Kyphosi... |
OMIM:618393 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Sho... |
OMIM:269860 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Pectus excavatum... |
ORPHA:2522 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Anteverted nares, Vertebral clefting, Hemivertebrae, Wide nasal bri... |
OMIM:614701 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ... |
OMIM:271510 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Triangular face, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarp... |
OMIM:619638 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Round face, Scapular winging, Depressed nasal bridge, Anteverted nares, Monkey... |
OMIM:618870 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Thoracolumbar scoliosis, Overl... |
OMIM:616723 |
| Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Round face, Coarse facial features, Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognath... |
OMIM:615979 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Tapered finger, Flat capital femoral epiphysis, Flattened epiphysis, Platyspondyly, Short femoral... |
ORPHA:157965 |
| Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Sh... |
OMIM:607095 |
| Achondroplasia |
|
Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciatic notch, Conductive he... |
OMIM:100800 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Round face, Anteverted nares, Prominent nasal bridge, Choanal ... |
ORPHA:1716 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy... |
OMIM:259440 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Death in infancy, Posteriorly rotated ears, Wide anterior fontanel, Epiphyseal stippling, Talipes... |
OMIM:614872 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Round face, Toe syndactyly, Posteriorly rotated ears, Short neck, Sensorineural hearing impairmen... |
OMIM:618958 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Hip dysplasia, Tali... |
OMIM:615290 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hip dysplasia, Hyperlordosis |
ORPHA:363454 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Long nose,... |
ORPHA:1968 |
| Trisomy 12P |
|
Short neck, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Large hands, Low-set ... |
ORPHA:1699 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Round face, Abnormal intervertebral disk morphology, Depressed n... |
ORPHA:2062 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Prominent nasolabial fold,... |
OMIM:618524 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Facial asymmetry, Short neck, Broad nasal tip, Thickened cortex of lon... |
ORPHA:488434 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Depressed nasal bridge, Thoracolumbar scolio... |
OMIM:618019 |
| Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri... |
ORPHA:3101 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Depressed nasal ridge, Coronal cleft vertebrae, Short long bone, Ep... |
OMIM:118651 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Anteverted nares,... |
OMIM:252500 |
| Mucolipidosis Iii Gamma |
|
Coarse facial features, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu... |
OMIM:252605 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Short neck, Sensorineural hearing impairment, Depresse... |
ORPHA:464288 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Anteverted nares, Sensorineural hearing impairment, Hip ... |
OMIM:615155 |
| Robin Sequence-Oligodactyly Syndrome |
|
Narrow face, Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the v... |
ORPHA:3104 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, B... |
OMIM:165800 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Coarse facial features, Posteriorly rotated ears, Short neck, Prominent ... |
OMIM:615668 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... |
ORPHA:3144 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal a... |
OMIM:619293 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Prominent fingertip pads, Short nose, Macrotia, Flat face |
OMIM:300558 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:600175 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
| Wiedemann-Steiner Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Tapered finge... |
OMIM:605130 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Depressed nasal ... |
ORPHA:1387 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
| Al-Raqad Syndrome |
|
Sandal gap, Low-set ears, Short nose, Flat face, Brachydactyly |
OMIM:616459 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Short neck, Spina bifida occulta, Ulnar deviation of the hand or of finger... |
OMIM:193700 |
| Masa Syndrome |
|
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis |
OMIM:303350 |
| Tetrasomy 5P |
|
Coarse facial features, Anteverted nares, Overlapping toe, Short hallux, Short neck, Posteriorly ... |
ORPHA:3309 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Depressed nasal bridge, Microtia, Camptodactyly, Abnormal facial shape, Flat face, He... |
OMIM:616006 |
| Mucopolysaccharidosis, Type X |
|
Coarse facial features, Spatulate ribs, Hyperlordosis, Broad clavicles, Wide nasal bridge, Genu v... |
OMIM:619698 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Depressed nasal bridge,... |
ORPHA:50945 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Abnorma... |
OMIM:302960 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
| Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads |
OMIM:271600 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... |
OMIM:616229 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
| Dystonia-Deafness Syndrome 1 |
|
Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis |
OMIM:607371 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Coarse facial features, Depressed nasal bridge,... |
ORPHA:363659 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Short neck, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Tibial... |
ORPHA:96334 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Broad metacarpals, Long hallux, Short metacarpal, Lumb... |
OMIM:602875 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Long face, Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal... |
ORPHA:261211 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Low-se... |
OMIM:200980 |
| Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Camptodactyly, Overla... |
OMIM:618436 |
| Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosi... |
OMIM:108300 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Hip dislocation, Talipes equino... |
OMIM:616756 |
| Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Death in childhood, Br... |
OMIM:613848 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hearing ... |
ORPHA:1782 |
| Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... |
ORPHA:2619 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Vertebral compression fracture, Hip dislocation, Abnormal form of the vert... |
ORPHA:2078 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Sacral dimple, 2-3 toe cutaneous syndactyly, Prominent fingertip pads, Fla... |
OMIM:615828 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Sensorineural hearing impairment, Hip dysplasia, Scoliosis, Short nose |
OMIM:618379 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Hearing impairment, Wide distal femoral metaph... |
OMIM:614856 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ... |
ORPHA:1988 |
| Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Short toe, Adducted thumb, Hip dis... |
OMIM:618435 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Round face, Coarse facial features, Micrognathia, Long nose, Abnormal rib... |
ORPHA:52 |
| Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Triangular face |
ORPHA:2771 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Sensorineu... |
OMIM:612394 |
| Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatarsus addu... |
OMIM:601680 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing... |
OMIM:109120 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... |
ORPHA:794 |
| Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Kyphosis, Vertebral wedging, Coxa vara, Pectus carinatum, P... |
OMIM:259450 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Choanal stenosis, Narrow chest, Conductive hearing impairment, Abnormal facial sh... |
ORPHA:95699 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Round face, Depressed nasal bridge, Anteverted nares, Sh... |
OMIM:614613 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Pectus excavatu... |
OMIM:615349 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Round face, Wide nasal bridge, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 v... |
OMIM:617333 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hearing impairment, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodie... |
ORPHA:3218 |
| Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Long nose, Flat face, Duplication of the distal phalanx of the hallu... |
OMIM:180750 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Coarse facial features, Short neck, Metatarsus addu... |
ORPHA:584 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand,... |
OMIM:190350 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip b... |
ORPHA:970 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Micrognathia, Pectus carinatum, Shoulder dislocation, Narrow chest, Prominent antitra... |
OMIM:245600 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Coarse facial features, Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Ab... |
ORPHA:2463 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... |
OMIM:616007 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Coarse facial features, Anteverted nares, Ovoid vertebra... |
ORPHA:1517 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Short neck, Micrognathia, Depressed nasal ridge, Low-... |
ORPHA:1832 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Scoliosis, L... |
OMIM:219200 |
| Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Prominent nose, Micrognathia, Hypoplasia ... |
ORPHA:763 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs... |
OMIM:617866 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Bilateral talipes equinovarus, Short clavicles... |
OMIM:618022 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Hemifacial hypoplasia, Micrognathia, Metaphyseal wide... |
ORPHA:536471 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
| Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Short neck, Broad nasal tip, Short toe, Short foot, Large fl... |
OMIM:602342 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Bowing of the legs, Coxa valga, Pectus excavatum, Coxa vara, Bell-shaped tho... |
OMIM:619131 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... |
ORPHA:2790 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Low-set, posteriorly rotated ears, Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordos... |
ORPHA:171866 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... |
ORPHA:2635 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Hemivertebrae, Microtia, Scoliosis, Flat face |
ORPHA:370079 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Hearing impairm... |
OMIM:601353 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Facial asymmetry, Hyperlordosis, Micrognathia, Verteb... |
ORPHA:1323 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Pectus excavatum, Scolio... |
ORPHA:1695 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc... |
OMIM:601216 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Conductive hearing impairment, Spina bifid... |
OMIM:150250 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Long nose, Increased intervertebral space, Narrow greater sciatic notch, Abnormal f... |
ORPHA:508533 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Prominent nasal bridge, Hyperlordosis, Abno... |
ORPHA:3068 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Abno... |
ORPHA:2180 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Round face, Femoral retroversion, Kyphosis,... |
OMIM:610915 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
| Simosa Craniofacial Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, Hearin... |
OMIM:182150 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
| Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Absent frontal sinuses, Round face, Flat face |
ORPHA:2536 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Low-set, posteriorly rotated e... |
ORPHA:800 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Scapular winging, Hyperlordosis, Pectus carinatum, Scoliosis, Long face |
OMIM:620389 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Macrotia, Pectus carinatum, Hypoplastic ... |
ORPHA:79255 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovarus, Low-set ear... |
OMIM:612626 |
| Blepharocheilodontic Syndrome 2 |
|
Flat face, Facial asymmetry, Cutaneous syndactyly |
OMIM:617681 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Prominent nasal bridge, Absent thumb, Micrognathia, Carious teeth, Hypopl... |
ORPHA:96097 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Pectus carinatum, Narrow greater sciatic notc... |
OMIM:253220 |
| Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Carious teeth, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... |
OMIM:213980 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Delayed eruption of teeth, Depressed nasal bridge, Pectus excavatum, Sensorineural he... |
OMIM:235510 |
| Gm1-Gangliosidosis, Type Ii |
|
Coarse facial features, Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth... |
OMIM:230600 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Hearing impairment, Anosmia, Epiphyseal stippling, Abnormality of the ver... |
OMIM:302950 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... |
ORPHA:79345 |
| Wieacker-Wolff Syndrome |
|
Anteverted nares, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia,... |
OMIM:314580 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Abnormal for... |
ORPHA:628 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Micrognathia, Short neck, Broad thumb, Clinodactyly of the 5th finger, Flat face |
ORPHA:2001 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Depressed nasal bridge, Rhizomelia, Short neck, Abnormality of the humerus, Kyphos... |
ORPHA:3098 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Square face, Anteverted nares, Short neck, Broad nasal tip, Cli... |
OMIM:615583 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Rocker bottom foot, Posteriorly rotated ears, Delayed eruption of permanent tee... |
OMIM:618506 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clin... |
ORPHA:261120 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Coxa valga, Micrognat... |
OMIM:130070 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Stillbirth, ... |
OMIM:241500 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Protruding ear, Talipes equinovar... |
ORPHA:169186 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Short neck, Low-set ears, Clinodactyly of the 5th finger, ... |
ORPHA:217385 |
| Arthrogryposis, Distal, Type 5D |
|
Round face, Congenital hip dislocation, Anteverted nares, Hyperlordosis, Short neck, Micrognathia... |
OMIM:615065 |
| Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Hyperlordosis, Kyphosis, Micrognath... |
ORPHA:536516 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased vertebral height, ... |
OMIM:616817 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Coarse facial features, Depressed nasal bridge, Camptodactyly of finger, B... |
ORPHA:354 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Coarse facial features, Hyperlordosis, Kyphosis, Short toe, Sensorineural hearing impairment, Bra... |
ORPHA:3085 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Round face, Anteverted nares, Thoracolumbar scoliosis, Prominent nasal bridge, Hyperlordosis, Mic... |
OMIM:618443 |
| Braddock-Carey Syndrome 1 |
|
Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Small hand, Wide nasal bridge, Talipes... |
OMIM:619980 |
| Chung-Jansen Syndrome |
|
Round face, Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Clinoda... |
OMIM:617991 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
| Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Hearing imp... |
ORPHA:1914 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Flat face, Choanal atresia, Cutaneous syndactyly |
OMIM:119580 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, Wide nasal br... |
OMIM:619124 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Round face, Anteverted nares, Camptodactyly... |
ORPHA:261318 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Depressed nasal ridge, Abnormal fibula morphology, Abnormal form of ... |
ORPHA:1837 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Pectus carinatum, Depressed nasal bridge, Anteverted nares, A... |
ORPHA:536467 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal epiphysis morpholog... |
ORPHA:1824 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Sandal gap, Abnormal finger morphology, Clubbing of toes, ... |
ORPHA:3051 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia, Kyphosis, Wide anterior fontanel, Femor... |
OMIM:616482 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Round face, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Microtia... |
OMIM:602562 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
| Kbg Syndrome |
|
Vertebral fusion, Round face, Anteverted nares, Prominent nasal bridge, Short neck, Underdevelope... |
ORPHA:2332 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger syndac... |
OMIM:101200 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Brachydactyly, Coarse facial features, Anteverted nares, Abno... |
OMIM:610253 |
| Menke-Hennekam Syndrome 2 |
|
Narrow nasal bridge, Square face, Depressed nasal bridge, Overlapping toe, Sandal gap, Micrognath... |
OMIM:618333 |
| Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Pectus excavatum, Squared ... |
ORPHA:2746 |
| Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Short neck, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyl... |
OMIM:609625 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Short neck, Ulnar bowing, Fem... |
OMIM:620076 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Kyphoscoliosis, Hypoplasia of the... |
OMIM:231070 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carinatum, Thoracic kyphosis, Short finger, Clin... |
OMIM:619467 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Narrow face, Anteverted nares, Down-sloping shoulders, Kyphoscoliosis, Short neck, Dev... |
ORPHA:391408 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Talipes equinovarus, Scoliosis, Hyperlordosis |
OMIM:611067 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Spinal rigidity, Congenital finger flexion contractures, Hyperlordosis |
ORPHA:267 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontanel, Dentinogenesis imperfecta, T... |
OMIM:259420 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, P... |
ORPHA:3121 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Thin ribs, Platyspondyl... |
OMIM:616294 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
| Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Cli... |
ORPHA:96148 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... |
OMIM:616854 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Clinodactyly of the 5th fi... |
OMIM:170390 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Sensorineural ... |
ORPHA:560 |
| Jansen-De Vries Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Small hand, Short foot, Low-set ears, ... |
OMIM:617450 |
| Malan Syndrome |
|
Mandibular prognathia, Narrow face, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, ... |
OMIM:614753 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Posteriorly rotated ears, Short neck, Micrognathia, Long fingers, Pectus ... |
OMIM:156610 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Coarse facial features, Depressed nasal bridge, Short neck, Bulbous nose, Flared metap... |
OMIM:610442 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ... |
ORPHA:93329 |
| Typical Nemaline Myopathy |
|
Narrow face, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocation,... |
ORPHA:171436 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall... |
ORPHA:949 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose, Long... |
OMIM:617183 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipe... |
OMIM:181405 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
| Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long fingers, Tr... |
OMIM:619489 |
| Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears, Scoliosis, Malar flattening, ... |
OMIM:615071 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Short neck, Underdeveloped nasal alae, Short ... |
OMIM:263650 |
| Zellweger Syndrome |
|
Death in infancy, Depressed nasal bridge, Micrognathia, External ear malformation, Wide anterior ... |
ORPHA:912 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
ORPHA:171839 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
| Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Synostosis ... |
ORPHA:3258 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Short neck, Pro... |
OMIM:610759 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Coarse facial features, Kyphosis, Scoliosis, Short nose |
ORPHA:2429 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip,... |
OMIM:613792 |
| Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Bulbous nose, W... |
OMIM:242900 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... |
OMIM:619736 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Triangular face, Hearing impairment, Micromelia, Abnormality of the humerus, Micro... |
ORPHA:2496 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Abnormal antihe... |
ORPHA:2145 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Malar flattening... |
OMIM:242860 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis |
OMIM:167320 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Sandal gap, Posteriorly rotated ears, Pectus excavatum, Condu... |
OMIM:617877 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Bulbous nose, Metaphyseal widening, Craniofacial osteoscleros... |
OMIM:618476 |
| Multiple Sulfatase Deficiency |
|
Coarse facial features, Broad hallux, Anteverted nares, Hypoplastic vertebral bodies, Flat face, ... |
OMIM:272200 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Pectus carinatum, Low-set ears, Scoliosis, Short nose, Macrotia, Tria... |
OMIM:615419 |
| Down Syndrome |
|
Depressed nasal bridge, Sandal gap, Short neck, Conductive hearing impairment, Depressed nasal ri... |
ORPHA:870 |
| Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly |
OMIM:618618 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femur morphology, Abnormal ep... |
ORPHA:3130 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Overfolded hel... |
ORPHA:79113 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Protruding ear, Short nose |
ORPHA:1495 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth... |
OMIM:166220 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the... |
OMIM:619269 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Coarse facial features, Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Shor... |
OMIM:619356 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea... |
ORPHA:2701 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Spinal rigidity, Narrow chest, Hyperlordosis |
ORPHA:157973 |
| Peho-Like Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:617507 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Round face, Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot, Posteriorly rotate... |
OMIM:214100 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Posteriorly rotated ears, W... |
OMIM:619479 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
| Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Scoliosis, Clinodactyly, Short nose |
OMIM:618577 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Abnormal facial shape, Anteverted nares, Low-set ears |
ORPHA:46 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
| Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face |
ORPHA:293707 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Narrow face, Congenital hip dislocation, Lumbar hyperlordosis, Scoliosis, Long face |
OMIM:255310 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Narrow face, Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, Clinodactyly of the 5th... |
ORPHA:251028 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... |
OMIM:618845 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... |
OMIM:122880 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Depressed nasal bridge, Sandal gap, Facial asymmetry, Tapered finger, Micrognat... |
OMIM:617061 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Round face, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:617201 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Long face |
OMIM:255200 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Depressed nasal bridge, Anteverted nares, Abnormal metatarsal morphology, Short... |
ORPHA:163654 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Tape... |
OMIM:601088 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Round face |
ORPHA:1355 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Underfolded ... |
OMIM:618316 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial asymmetry, Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Wi... |
OMIM:218000 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Short thorax, Genu valgum, Microtia, Sev... |
ORPHA:2983 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Choanal a... |
OMIM:613385 |
| Congenital Myopathy 19 |
|
Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Bell-shaped thorax, Low-set ears, ... |
OMIM:618578 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han... |
OMIM:241800 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal clavicl... |
ORPHA:568 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Round face, Anteverted nares, Short neck, Pe... |
OMIM:305400 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form o... |
ORPHA:73230 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Sacral dimple, Short nose, Anteverted nares |
ORPHA:531 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Prominent nasal bridge, Tapered finge... |
OMIM:216550 |
| Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Kyphoscoliosis, Hearing abnormality, Dentinogenesis imperfecta, Hip dislocation, P... |
OMIM:616507 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Short neck, Bulbous nose, 2-3 toe syndac... |
OMIM:236500 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Dentinogenesis imperfecta, Vertebral wedging, Coxa vara, Bic... |
OMIM:610968 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... |
ORPHA:93356 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Prominent nose, Short metatarsal, Long face, Short metacarpal, Rhizomelia,... |
OMIM:614813 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Large earlobe, Low-set ears, Clinodactyly, ... |
OMIM:617752 |
| Stuve-Wiedemann Syndrome 1 |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, De... |
OMIM:601559 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Retrognathia, Scoliosis, Hyperlordosis |
OMIM:161800 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Abnormal pinna morphology, Short neck, Absent phalangeal crease, Retrognathia, Camptodactyly, Mal... |
OMIM:611929 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Narrow face, Posteriorly rotated ears, Hyperlordosis, Short neck, Kyph... |
ORPHA:2789 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Wide capital femoral epiphy... |
ORPHA:1830 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... |
OMIM:601224 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Short nose, Scoliosis, Micrognathia |
ORPHA:2598 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wide nasal bridge, Slender long bone, Metacarpal osteolysi... |
ORPHA:2774 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, Cli... |
OMIM:618332 |
| Fucosidosis |
|
Cervical platyspondyly, Barrel-shaped chest, Wide nose, Lumbar hyperlordosis, Depressed nasal bri... |
OMIM:230000 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Round face, Rhizomelia, Tapered finger, Pectus exc... |
ORPHA:319182 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Mixed hearing impairment, Coarse facial features, Depressed nasal bridge, ... |
ORPHA:309282 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Short neck, Tapered finger, L... |
OMIM:616734 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Triangular face, Anteverted nares, Prominent ... |
ORPHA:371364 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of... |
ORPHA:1449 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Long face, Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Prominent... |
ORPHA:261330 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Triangular face, Prominent nasal bridge... |
ORPHA:1110 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Bruck Syndrome 2 |
|
Pectus carinatum, Platyspondyly, Talipes equinovarus, Femoral bowing |
OMIM:609220 |
| Osteogenesis Imperfecta, Type Xix |
|
Rhizomelia, Bowing of the legs, Pectus excavatum, Vertebral wedging, Pectus carinatum, Scoliosis,... |
OMIM:301014 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow face, Short neck, Tapered finger, Micrognathia, Wide nasal bridge, Retrognathia, Hypoplasi... |
OMIM:620250 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Short neck, ... |
OMIM:616801 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Carious teeth, Aplastic clavicle, Prominent nose, Long nose, Kyphosis, Bul... |
ORPHA:2769 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Joubert Syndrome 37 |
|
Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Postaxial polydactyl... |
OMIM:619185 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Round face, Depressed nasal bridge, Short neck, Bulbous nose, ... |
ORPHA:369891 |
| Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Abnorm... |
ORPHA:2645 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Short neck, Underdevel... |
ORPHA:2083 |
| Distal Deletion 12Q |
|
Short neck, Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyl... |
ORPHA:96149 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
| C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Posterior... |
OMIM:211750 |
| Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Increased fibular diameter, Rhizomelia, Short neck, Microg... |
OMIM:258315 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Low-set... |
ORPHA:1895 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Pectus excavatum, Deviation of finger, Bilateral talipes equinovarus, Congenital ... |
ORPHA:1154 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abn... |
ORPHA:263463 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Scoliosis, Short nose, Long... |
ORPHA:496790 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Arachnodactyly, Hyperlordosis, Underdeveloped nasal alae, Micrognathia, Pectus carinatum, Scolios... |
OMIM:300986 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Narrow chest, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Nemaline Myopathy 2 |
|
Spinal rigidity, Hyperlordosis, Abnormal rib cage morphology, Low-set ears, Scoliosis, Hand clenc... |
OMIM:256030 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone, Small face |
OMIM:262500 |
| Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Posteriorly rotated ears, Tapered finger, Asymmetric ... |
ORPHA:1272 |
| Alazami Syndrome |
|
Wide nose, Slender long bone, Low-set ears, Scoliosis, Malar flattening, Triangular face |
ORPHA:319671 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Hearing impairmen... |
ORPHA:2484 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Short palm, Malar flattening, Sh... |
ORPHA:93328 |
| Smith-Magenis Syndrome |
|
Large face, Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Dela... |
ORPHA:819 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Bifid distal phalanx of the thumb, Sensorine... |
OMIM:618419 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Tapered finger,... |
OMIM:618829 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Short n... |
OMIM:300990 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Scapular winging, Hammertoe, Lumbar hyperlordosis |
ORPHA:435387 |
| Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Short neck, Clubbing, Prominent ... |
ORPHA:96123 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Prominent nasal bridge, Short neck, Broad nasal tip, Micrognathia, Talipes equinov... |
OMIM:613544 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Scoliosis, Conduc... |
ORPHA:561 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo... |
ORPHA:828 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Short neck, Underdeveloped nasal alae, Wid... |
OMIM:263210 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermob... |
OMIM:166200 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Attached earlobe, Abnormality of the vertebral spinous processe... |
ORPHA:1299 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge, Abnormal facial shape |
ORPHA:438178 |
| Meckel Syndrome, Type 8 |
|
Short neck, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Low-set ears, Narrow chest, ... |
OMIM:613885 |
| Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Abnormal pinna morphology, Pectus excavatum, Talipes equinovarus, Malar flatte... |
OMIM:177980 |
| Perlman Syndrome |
|
Round face, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ... |
ORPHA:2849 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hip dislocation, Scoliosis, Hyperlordosis |
OMIM:613156 |
| Mulibrey Nanism |
|
Wide nose, Triangular face, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal antihelix morphology, Platyspondyly... |
ORPHA:85194 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis |
ORPHA:352470 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Coarse facial features, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Large ea... |
ORPHA:485405 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal... |
OMIM:166300 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Mixed hea... |
OMIM:616331 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormally straight spine, Abnormal form of ... |
ORPHA:2900 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Sensorineural hearing impairment, Flat face, Wide nasal bridge, Low-set ears |
OMIM:607906 |
| 3Mc Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Hyperlordosis, Abnormal nasal morphology, Hip disl... |
ORPHA:293843 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Hyperlordosis |
OMIM:618129 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality... |
ORPHA:391372 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Down-sloping shoulders, Prominent nasal bridge, Micrognathia, Pectus exc... |
OMIM:616200 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Malar ... |
OMIM:616420 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Pectus excavatum, Kyphosis, Absent phalangeal crease, Protruding ear, Bilateral t... |
OMIM:108145 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Micrognathia... |
ORPHA:3253 |
| Al Kaissi Syndrome |
|
Sacral dimple, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Broad... |
OMIM:617694 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Posteriorly rotated ears, Tapered finger, Bulbous nose, Scoli... |
OMIM:618430 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Posteriorly rotated ears, Hyperlor... |
OMIM:617011 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Conductive hearing i... |
OMIM:611209 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... |
ORPHA:1149 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Abnormal hand morphology, Protruding ear, Hypoplasia of t... |
ORPHA:319171 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Broad nasal tip, Thoracic kyphosis, Scoliosis, ... |
OMIM:619542 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Abnormal facial shape, Low-set ear... |
OMIM:608776 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Round face, Depressed nasal bridge, Short neck, Bulbous nose, Talipes equinovarus, Low-set ears, ... |
OMIM:616789 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... |
OMIM:143095 |
| Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Depressed nasal ridge, Malar flattening, Abnormal facial shape,... |
OMIM:266510 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... |
OMIM:139210 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal... |
OMIM:617796 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodies, Beaki... |
OMIM:613982 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Short nose, Retrognathia, Broad nasal tip |
OMIM:613670 |
| 3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Slender nose, Triangular face, Arachnodactyly, Kyphoscoliosis, Low-set ear... |
ORPHA:397695 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Short neck, Micrognathia, Bulbous nose, Supernumerar... |
ORPHA:1787 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Long face, Coarse facial features, Depressed nasal bridge, Posteriorly rotated ears, Coxa valga, ... |
OMIM:619833 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Triangular face, Anteverted nares, Arachnodactyly, Broad hallux, Hypopla... |
ORPHA:481152 |
| Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Pectus excavatum, Cariou... |
ORPHA:1786 |
| Occipital Horn Syndrome |
|
Short humerus, Narrow face, Pelvic bone exostoses, Coxa valga, Broad clavicles, Kyphosis, Capitat... |
OMIM:304150 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Round face, Hearing impairment, Micrognathia, Metatarsus adductus, Wide anterio... |
OMIM:614866 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Sensorineural hearing impairment, Hip dysplasia, Abnormal fa... |
ORPHA:544503 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, P... |
OMIM:227330 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Choanal stenosis, Broad ri... |
ORPHA:798 |
| 3C Syndrome |
|
Finger syndactyly, Death in infancy, Depressed nasal bridge, Short neck, Micrognathia, Kyphosis, ... |
ORPHA:7 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Hyperlordosis |
ORPHA:52430 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Coarse facial features, Sinusitis, Ovoid vertebral bodies, Short neck, Kyph... |
ORPHA:583 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Coarse facial features, Anteverted nares, Overlapping toe, Wide nasal bridge... |
OMIM:619383 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Microti... |
ORPHA:2547 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, Choanal stenosis, Ne... |
OMIM:259775 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Hemivertebrae, Protru... |
OMIM:156200 |
| Ohdo Syndrome, X-Linked |
|
Prominent nose, Micrognathia, Narrow chest, Long face, Depressed nasal bridge, Short thumb, Wide ... |
OMIM:300895 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Coarse facial features, Anteverted nares, Increased intervertebral space, ... |
OMIM:619727 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Posteriorly rotated ears, Micrognath... |
OMIM:618529 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Low-set ears, Short nose |
OMIM:614732 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Prominent nose, Micrognathia, Delayed epiphyseal ossification, Preaxial p... |
OMIM:210710 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Long face, 11 pairs of ribs, Prominent nasal bridge, Long nose, Short long bone, Scoliosis, Short... |
OMIM:619184 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Choanal atresia, Posteriorly rotated ears, Missing ribs, Hemivertebrae, Wide nasa... |
ORPHA:2759 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Anteverted nares, Protruding ear, Scoliosis, Facial asymmetry |
OMIM:618731 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Scoliosis, Hyperlordosis |
OMIM:616228 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of t... |
ORPHA:391474 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Coarse facial features, Soft tissue swelling of interphalangeal joints, Ir... |
OMIM:252600 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Prominent nasal bridge, Hyperlordosis, Underdeveloped nasal alae, Micrognathia, Meta... |
OMIM:234100 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Low-set ears, Camptodact... |
OMIM:610015 |
| Mucolipidosis Type Ii |
|
Hip contracture, Coarse facial features, Depressed nasal bridge, Kyphosis, Sensorineural hearing ... |
ORPHA:576 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Sensorineural hearin... |
OMIM:161200 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the earlobes, Abn... |
ORPHA:1702 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
| Sotos Syndrome |
|
Mandibular prognathia, Narrow face, Triangular face, Depressed nasal bridge, Anteverted nares, Po... |
OMIM:117550 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:93262 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Thickened helices, Bulbous nose, C... |
OMIM:618828 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5... |
OMIM:613443 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| 20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Triangular face, Tapered finger,... |
ORPHA:261311 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Ex... |
ORPHA:2136 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
| Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Prominent nose, Micrognathia, Bulbous nose, Sensorineural hearing impairm... |
OMIM:301022 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... |
ORPHA:2710 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hearing impairment, Hypoplasia o... |
ORPHA:2588 |
| 17P11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Scoliosis, Triangular face, Hearing impairment |
ORPHA:1713 |
| Legius Syndrome |
|
Posteriorly rotated ears, Micrognathia, Short neck, Pectus excavatum, Low-set ears, Triangular face |
OMIM:611431 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S... |
OMIM:249620 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Fountain Syndrome |
|
Long face, Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Round face... |
ORPHA:3219 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Short nose, Scoliosis, Micrognathia |
OMIM:615042 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Slender long bone, Short nose, Spina bifida ... |
ORPHA:1185 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Sc... |
OMIM:601812 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Proximal placement of thumb, Hearing impairment, Cupped ear, Overfolded helix, ... |
OMIM:618619 |
| Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated ears, ... |
ORPHA:2876 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Pectus excavatum, Slender long bone,... |
OMIM:618590 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Clinodactyly of the 5th finger, Triangular face, Facial asymmetry |
ORPHA:231147 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Large hands, Scoliosis, Short nose, Facial asymmetry |
ORPHA:3307 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Round face, Depressed nasal bridge, Bulbous nose, Low-set ears, Flat face |
OMIM:619103 |
| Partington Syndrome |
|
Triangular face, Camptodactyly |
OMIM:309510 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Anteverted nares, Wide nasal bridge, Low-set ears, Death in childhood, Neonata... |
OMIM:614052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Coarse facial features, Depressed nasal bridge, Posteriorly rotated ears, Tapered finger, Hyperlo... |
OMIM:301066 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Triangular face, Protruding ear |
ORPHA:231140 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Wide nasal bridge, Femoral bowing, Thin ribs, Biconcave v... |
OMIM:617952 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morpho... |
ORPHA:1295 |
| 15q26 overgrowth syndrome |
|
Mandibular prognathia, Short neck, Prominent nose, Micrognathia, Abnormal finger morphology, Abno... |
DECIPHER:81 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
| Silver-Russell Syndrome 2 |
|
Clinodactyly of the 5th finger, Triangular face, 2-3 toe syndactyly, Micrognathia |
OMIM:618905 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Micrognathia, Pect... |
ORPHA:476126 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Overfolded helix, Low-set ears, Abnormal helix morphology, ... |
ORPHA:1913 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Anteverted ears, Abnormal facial shape, Macrotia, Triangular face, Long face |
ORPHA:544254 |
| Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Aplastic ... |
ORPHA:198 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Persistence of primary teeth, Micrognathia, Sensorineural hearing impairment, W... |
OMIM:618342 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Abnormal rib morphology, Abnormal fo... |
ORPHA:1486 |
| Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Glue ear, Abnormal dent... |
ORPHA:3310 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Short neck, Ab... |
OMIM:217980 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Round face, Anteverted nares, Prominent nasal bridge, Posteriorly r... |
OMIM:148050 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Hemivertebrae, Sprengel anomaly, Abnormal facial shape, Dy... |
OMIM:134780 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Depressed nasal bridge, Anteverted nares, Hyperlordosis, Broad nasal tip, Wide nasal bridge, Clin... |
ORPHA:221139 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sandal gap, Micrognathia, Pectus excavatum, Small hand, Wide nasal bridge, Short foot, Abnormal r... |
OMIM:270450 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Narrow face, Prom... |
ORPHA:1225 |
| Myopathy, Scapulohumeroperoneal |
|
Scapular winging, Scoliosis, Hyperlordosis |
OMIM:616852 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Scoliosis |
OMIM:618218 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Bulbous nose, Wide nasal bridge... |
OMIM:618571 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurren... |
ORPHA:3078 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Microtia, Sym... |
ORPHA:1439 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Bulbo... |
OMIM:612940 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th... |
OMIM:227270 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Tapered finger, Bulbous nose, Cupped ear, Inter... |
OMIM:613870 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal ... |
OMIM:617925 |
| Spondyloocular Syndrome |
|
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Posteriorly rotated ears, Long fingers... |
OMIM:605822 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Clinodactyly of the 5th finger, Triangular face, Facial asymmetry |
ORPHA:231144 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... |
OMIM:610536 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Anteverted nares, Choanal atresia, Camptodacty... |
ORPHA:83 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Large earl... |
OMIM:615716 |
| Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Underdeveloped nasal alae, Micrognathia, Sensorine... |
OMIM:269880 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Coxa vara, Short femoral neck, Infantile sensorine... |
ORPHA:2848 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Short neck, Aplasia/Hypoplasia of the earlobes, Wide nasal bri... |
ORPHA:1642 |
| Icf Syndrome |
|
Depressed nasal bridge, Flat face, Low-set ears, Micrognathia |
ORPHA:2268 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Scoliosis, Long face |
ORPHA:353 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Micrognathia, Carious teeth, Wide n... |
OMIM:613026 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
| Intellectual Disability-Strabismus Syndrome |
|
Long face, Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Short neck, Prominent ... |
ORPHA:363528 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Persistence of primary teeth, Micrognathia, Hypoplasia of the maxill... |
ORPHA:37553 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Kyphoscoliosis, Micrognathia, Protruding ear, Low-set ears... |
OMIM:618820 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Clinodactyly of the 5th finger, Triangular face, Narrow nose, Facial as... |
ORPHA:231137 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:613803 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Sensorineural hearing impairment, Hyperlordosis |
ORPHA:1192 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, Long fingers, Macro... |
OMIM:256040 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridge, Tali... |
ORPHA:847 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Abnormal in... |
ORPHA:2311 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, 2-3 toe syndactyly, Protruding ear, Join... |
OMIM:620098 |
| 3Q29 Microdeletion Syndrome |
|
Narrow face, Prominent nasal bridge, Facial asymmetry, Tapered finger, Pectus excavatum, Pectus c... |
ORPHA:65286 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Dental malocclusion, Scoliosis, Prominent nasal tip, Triangu... |
OMIM:610883 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Progressive clav... |
OMIM:608612 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Short neck, Absent thumb, Absent radius, Micrognathia, Humeroradial synost... |
OMIM:251230 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... |
ORPHA:98855 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly... |
OMIM:146510 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Choanal atresia, Short neck, Promi... |
OMIM:305450 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavat... |
ORPHA:98863 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow ch... |
OMIM:618371 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short neck, Duplication of phalanx of hallux, Sensorineural hearing impairment,... |
OMIM:243310 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Short palm, Short phalanx... |
OMIM:249420 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Tapered finger, ... |
OMIM:301040 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Long face, Wide nose, Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Hip dysplasi... |
OMIM:616078 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thumb, Long nose, Bu... |
OMIM:620113 |
| Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Crumpled long bones, Round face, Rhizomelia, Protrusio acetabuli, Femoral retro... |
OMIM:610682 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Prominent nasal... |
OMIM:309583 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... |
OMIM:615866 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Kyphosis, Postaxial h... |
ORPHA:2916 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Sandal gap, Abnormal pinna morphology, Rhizomelia, Sensori... |
OMIM:607143 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Round face, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... |
OMIM:614069 |
| Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Short palm, Conductive hearing impairment, Failure of erup... |
ORPHA:3238 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Short... |
OMIM:613603 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Coarse facial features, Micromelia, Short neck, Short nose, Adducted thumb |
ORPHA:50810 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Melanocytic Nevus Syndrome, Congenital |
|
Round face, Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, ... |
OMIM:137550 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Pectus excavatum, Talipes equinovarus, Hyperlordosis |
OMIM:611588 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Mi... |
OMIM:616300 |
| 3-Hydroxyisobutyric Aciduria |
|
Microtia, Triangular face, Micrognathia |
ORPHA:939 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Long face, Depressed nasal... |
OMIM:613458 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl... |
OMIM:613805 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Hyperlordosis, Supernumerary tooth, Abnormal hip bone morphology, Scol... |
ORPHA:3353 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Micrognathia, Depressed nasal ridge, Hyperlordosis |
OMIM:600462 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Short nose |
OMIM:618087 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Micrognathi... |
ORPHA:2879 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Advanced eruption of tee... |
OMIM:615873 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Spinal canal stenosis, S... |
OMIM:277600 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Micrognathia, Retrognathia, Supernumerary ribs, Low-set ears, Short nos... |
ORPHA:163961 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hearing impairment, Hypoplasia of the maxilla, Low-set ears, Clinodactyly, Short dista... |
OMIM:614261 |
| Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Depressed nasal bridge, Anteverted nares, Hearing impairment, Short ne... |
OMIM:616894 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Scoliosis, Hyperlordosis |
OMIM:620285 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Overlapping toe, Posteriorly rotated ears, Micrognathia... |
OMIM:617822 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Scapular winging, Spinal rigidity, Hyperlordosis, Kyphosis, Pectus excavatum, Scoliosi... |
ORPHA:98853 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Prominent nasal bridge, Short thumb, Wide nasal bridge, Short nose, Dislocated rad... |
ORPHA:401935 |
| Down Syndrome |
|
Sandal gap, Hypoplastic iliac wing, Conductive hearing impairment, Atlantoaxial instability, Micr... |
OMIM:190685 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Long nose, Kyphosis, Pectus excavatum, Carious teeth, Scoliosis, Camp... |
OMIM:617602 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominen... |
OMIM:615485 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Protruding ear, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly... |
OMIM:615539 |
| Toluene Embryopathy |
|
Micrognathia, Tapered finger, Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Sho... |
ORPHA:1920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Pectus excavatum, Long fingers, Abnormal fa... |
ORPHA:357001 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, External e... |
ORPHA:1305 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal... |
ORPHA:3003 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Small hand, Low-set ears, Clinodactyly of the 5th finger, Retrognathia, Triangular face |
OMIM:616489 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Short neck, Tapered fi... |
ORPHA:251071 |
| Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity, Thoracic kyphosis, Talipes e... |
OMIM:617114 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Short nose, Sandal gap |
OMIM:300887 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Flat face |
OMIM:618154 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Craniofacial disproportion, Short distal phalanx of the 5th finger, Cli... |
OMIM:180860 |
| 16Q24.3 Microdeletion Syndrome |
|
Long face, Anteverted nares, Proximal placement of thumb, Micrognathia, Kyphosis, Protruding ear,... |
ORPHA:261250 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra... |
ORPHA:99646 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Pectu... |
OMIM:606851 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Large face, Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Triangular face |
OMIM:614883 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ear, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Malar flatteni... |
OMIM:225060 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Sensor... |
ORPHA:1131 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly |
ORPHA:210548 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Facial asymmetry, Wide anterior fontanel, Abnormal facial shape, Cont... |
ORPHA:457279 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Syndactyly, Death in infancy, Triangular face, Depressed nasal bridge, Pos... |
OMIM:612289 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Delayed eruption of teeth, Wide nose, Stapes ankylosis, Depressed nasal bridge, Br... |
OMIM:614188 |
| Xq12-Q13.3 Duplication Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Recurrent upper respiratory tract infections, 2-3 toe s... |
ORPHA:314389 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Pectus excavatum, Contracture of the distal interphalangeal join... |
ORPHA:2614 |
| Noonan Syndrome 14 |
|
Coarse facial features, Scapular winging, Posteriorly rotated ears, Prominent nasal bridge, Short... |
OMIM:619745 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Protruding ea... |
OMIM:303600 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge... |
OMIM:616914 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sensorineural h... |
OMIM:614744 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Triangular face, Short neck, Micrognathia, Upper limb undergrowth, Wide nasal bridg... |
ORPHA:529962 |
| Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Depressed nasal bridge, Anteve... |
ORPHA:97360 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Micrognathia, Femoral bowing, Short long bone, Broad ribs, Talipe... |
OMIM:617022 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ... |
ORPHA:3107 |
| Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Dislocated radia... |
OMIM:102500 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bulbous nose, Protruding ear, Abnormal a... |
ORPHA:261144 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, Moon facies, Thickened helices, Prominent fing... |
OMIM:619950 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Rocker bottom foot, M... |
ORPHA:521426 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Long face, Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, P... |
ORPHA:1974 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Progre... |
OMIM:619234 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd... |
ORPHA:1234 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Nizon-Isidor Syndrome |
|
Prominent fingertip pads, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Long ... |
OMIM:618872 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis |
OMIM:615156 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda... |
OMIM:615503 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, P... |
ORPHA:457359 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short neck, Short nose |
ORPHA:884 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari... |
OMIM:164200 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
| Geleophysic Dysplasia 1 |
|
Short palm, Round face, Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, ... |
OMIM:231050 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Thickened helices, Hypoplasia of ... |
OMIM:608328 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Trisomy 10P |
|
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials,... |
ORPHA:171929 |
| Marbach-Rustad Progeroid Syndrome |
|
Triangular face, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failur... |
OMIM:619322 |
| Dermotrichic Syndrome |
|
Short nose, Macrotia, Depressed nasal bridge, Abnormal vertebral morphology |
ORPHA:99688 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
| Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Depressed nasal bridge, Triangular face |
OMIM:617532 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Anteverted nares, Polyda... |
ORPHA:59315 |
| Bethlem Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Camptodactyly of finger, Interphalangeal joint contractur... |
ORPHA:610 |
| 12Q14 Microdeletion Syndrome |
|
Wide nose, Prominent nasal bridge, Micrognathia, Scoliosis, Clinodactyly of the 5th finger, Abnor... |
ORPHA:94063 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Pectus excavatum, Wide nasal bridge, Malar flattening, Flat face |
OMIM:265300 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Long face, Depressed nasal bridge, Rhizomelia, Micrognathia, Bulbous nose, Low-set ears, Round ea... |
OMIM:614114 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal chondrodysp... |
OMIM:156400 |
| Au-Kline Syndrome |
|
Sacral dimple, Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal al... |
OMIM:616580 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, Wide anterior fontanel, Sho... |
OMIM:616638 |
| Peho Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:260565 |
| Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Depressed nasal bridge, Anteverted nares, Short hallux, Short neck, Tapered finger... |
OMIM:608156 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... |
OMIM:225500 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Abnormal pinna morphology, Depressed nasal bridge, Hyperlordosis, Wide anterior... |
ORPHA:26791 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bo... |
OMIM:102700 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Wide anterior fontanel, Sensor... |
OMIM:222448 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Coarse facial features, Prominent nose, Wide nasal bridge, Symphalangism affecting the phalanges ... |
ORPHA:1292 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Coarse facial features, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micr... |
OMIM:617527 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Scoliosis |
ORPHA:353327 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Cervical kyphosis, Kyphoscoliosis, Tapered ... |
ORPHA:2953 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Low-set ears, Clinodactyly... |
ORPHA:397590 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi... |
ORPHA:894 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
| Short Syndrome |
|
Abnormal dental enamel morphology, Abnormal zygomatic bone morphology, Sensorineural hearing impa... |
ORPHA:3163 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasa... |
OMIM:616430 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
| Kaufman Oculocerebrofacial Syndrome |
|
Narrow face, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Ovoid vertebra... |
OMIM:244450 |
| Mycetoma |
|
Back pain, Abnormal thorax morphology, Abnormal forearm bone morphology, Abnormal form of the ver... |
ORPHA:2583 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Round face, Bulbous nose, Wide nasal bridge, Short nose, Macrotia |
OMIM:620292 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Posteriorly rotated ears, Hearing impairment, Tapered finger, Broad nasal ... |
OMIM:239300 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Short neck, Broad nasal tip, Kyphosis, Cupped ear, Hemivertebrae, Depress... |
OMIM:618223 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short neck, Hemivertebrae, Rib fusion, Sprengel ano... |
ORPHA:1394 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Death in infancy, Low-set, posteriorly rotated ears, Mandibular progna... |
ORPHA:534 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Calcaneovalgus deformity, Protruding ear, Pectus carinatum, Prominent fingertip pads, Abnormal fa... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Calcaneovalgus deformity, Protruding ear, Pectus carinatum, Prominent fingertip pads, Abnormal fa... |
ORPHA:363958 |
| Trigonocephaly 1 |
|
Short nose, Lumbar hemivertebrae, Wide nasal bridge |
OMIM:190440 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho... |
ORPHA:2835 |
| Joubert Syndrome 27 |
|
Polydactyly, Triangular face |
OMIM:617120 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Micrognathia, Long nose, Conductive hearing impairment, Wide ... |
ORPHA:2135 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Narrow face, Anteverted nares, Micrognathia, Vertebral segment... |
ORPHA:1915 |
| Chromosome 3Q29 Duplication Syndrome |
|
Round face, Bulbous nose, Wide nasal bridge, Short nose, Long face |
OMIM:611936 |
| Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ... |
ORPHA:263508 |
| Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Small hand, Wide nasal bridg... |
OMIM:145420 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Sandal gap, Micrognathia, Abnormal appendicular skeleton morph... |
ORPHA:813 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Large face, Coarse facial features, Mandibular prognathia, Abnormal ... |
ORPHA:93 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Round face, Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, ... |
OMIM:301044 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Ab... |
OMIM:616975 |
| Facioscapulohumeral Dystrophy |
|
Sensorineural hearing impairment, Hyperlordosis |
ORPHA:269 |
| Floating-Harbor Syndrome |
|
Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Conductive hearing impairment... |
OMIM:136140 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Kyphosis, Incr... |
OMIM:619005 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Congenital hip dislocation, Depressed nasal bridge, Arachnodactyly, Kyphoscoliosis, Protrusio ace... |
OMIM:225400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
| Trisomy 8P |
|
Short fourth metatarsal, Short neck, Conductive hearing impairment, Clinodactyly of the 5th finge... |
ORPHA:264450 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Pectus excavatum, Abnormal... |
ORPHA:1812 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Broad nasal tip, Prominent... |
ORPHA:177907 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose |
OMIM:614105 |
| Nicolaides-Baraitser Syndrome |
|
Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger, Long toe, Short meta... |
OMIM:601358 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Coarse facial features, Depressed nasal bridge, Antevert... |
OMIM:115150 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Scoliosis, Short ... |
ORPHA:1358 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
| Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Clinodactyly of the 5th finger, Short nose, Macrotia |
OMIM:614222 |
| Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Low-set ears, Malar flattenin... |
OMIM:601853 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing i... |
ORPHA:2143 |
| Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Proximal placement of thum... |
ORPHA:261112 |
| Slc39A8-Cdg |
|
Cutaneous syndactyly of toes, Low-set ears, Limb undergrowth, Flat face, Hearing impairment |
ORPHA:468699 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
| Atelis Syndrome 2 |
|
Sacral dimple, Prominent nose, Micrognathia, Kyphosis, Bulbous nose, Protruding ear, Low-set ears... |
OMIM:620185 |
| Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Moon facies, Short femoral neck, Short clavicles,... |
ORPHA:370930 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s... |
OMIM:617802 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Protruding ear, Long face, Depressed nasal bridge, Tapered finger, Scoliosis, Low-s... |
OMIM:309590 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Kyphosis, Protruding ear, Pectus carinatum, Talipes equinovarus, Scoliosi... |
OMIM:617988 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Hearing impairment, Underdeveloped nasal alae, Aplasia of ... |
ORPHA:364577 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Sacral dimple, Anteverted nares, Posteriorly rotated ears, Micrognathi... |
OMIM:247200 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Round face, Depressed nasal bridge, Anteverted nares, Prominent nasal brid... |
OMIM:300912 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Pectus excavatum, Scoliosis, Lo... |
OMIM:615398 |
| Chopra-Amiel-Gordon Syndrome |
|
Thick nasal alae, Flared nostrils, Triangular face, Scoliosis |
OMIM:619504 |
| Cap Myopathy |
|
Pectus excavatum, Thoracic scoliosis, Lumbar hyperlordosis, Long face |
ORPHA:171881 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Tapered finger, Bulbous nose, Wide nasal b... |
OMIM:615803 |
| Chromosome 17Q12 Duplication Syndrome |
|
Triangular face, Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Wide nose, Sacral dimple, Toe syndactyly, Camptodactyly... |
ORPHA:261337 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, Vertebral segmentation defect, Cli... |
ORPHA:373 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Antev... |
ORPHA:2308 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Limb undergrowth, Short nose, Retrognathia |
OMIM:618005 |
| Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Arachnodactyly, Anteverted nares, Camptodactyly of finger, Posteriorly ... |
ORPHA:2462 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Hip dislocation, Protruding ear, Talipes equinovarus, Low-set ears, Triangular fa... |
OMIM:616603 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Conduc... |
OMIM:609053 |
| Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Posteriorly rotated ears, Choanal atresia, Micrognathia, Hypoplastic frontal... |
OMIM:300712 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Low-set ears, Short nose |
ORPHA:314655 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Retrognathia, Protruding ear, Microtia, Short middle phala... |
OMIM:301030 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Mild neurosensory hearing impairment, Lumbar hyperlordosis, Anosmia, Scoliosis, Tinnitus |
OMIM:601152 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Short neck, Micrognathia, Sensorineural hearing impairment, Low-set ... |
OMIM:608779 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Posteriorly rotated ears, Kyphoscoliosis, Bulbous nose, Asymmetry of the t... |
OMIM:618644 |
| Congenital Myopathy 17 |
|
Mandibular prognathia, Overlapping toe, Tapered finger, Pectus excavatum, Dental malocclusion, Na... |
OMIM:618975 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Coarse facial features, Sinusitis, Kyphoscoliosis, Hyperlordosis, Facial asymmetry, Micrognathia,... |
ORPHA:363700 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talo... |
ORPHA:2409 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Miscarriage, Triangular face |
ORPHA:96181 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Coarse facial features, Depressed nasal bridge, Anteverted nar... |
ORPHA:1340 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Micrognathia, Pectus ... |
ORPHA:2020 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Thick... |
ORPHA:77301 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, Dental malocclusion, Abnormal facial shape, Scoliosis, Short nose |
ORPHA:329178 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femoral epiphys... |
ORPHA:3342 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose, Uplifted earlobe |
OMIM:300143 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... |
ORPHA:90154 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Coarse facial features, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micro... |
OMIM:614080 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape... |
OMIM:200990 |
| Witteveen-Kolk Syndrome |
|
Narrow face, Glue ear, Proximal placement of thumb, Uplifted earlobe, Protruding ear, Short palm,... |
OMIM:613406 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Sensorineural hearing impairment, Oval fac... |
OMIM:300749 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Malar flattening, Triang... |
OMIM:301025 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Coarse facial features, Depressed nasal bridge, Anteverted nares, Broa... |
ORPHA:1465 |
| Silver-Russell Syndrome 4 |
|
Triangular face |
OMIM:618907 |
| Silver-Russell Syndrome 5 |
|
Triangular face |
OMIM:618908 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, S... |
ORPHA:2510 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micro... |
OMIM:618454 |
| Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal ... |
ORPHA:3015 |
| Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Sacral dimple, Anteverted nares, Short neck, Micrognathia, Pos... |
ORPHA:1620 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Conductive hearing impairment, Clinodactyl... |
OMIM:113620 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Mi... |
OMIM:223370 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Shortening of all distal ph... |
OMIM:614207 |
| Hyperparathyroidism, Transient Neonatal |
|
Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal spurs, Wide nasal bridge, Undu... |
OMIM:618188 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Large earlobe, Scoliosis, Short nose |
OMIM:615851 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Coarse facial features, Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, ... |
OMIM:617865 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Microretrognathia, Hitchhiker thumb, Ulnar deviation of the ha... |
ORPHA:79328 |
| Floating-Harbor Syndrome |
|
Short neck, Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Conductive hearing impa... |
ORPHA:2044 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Coarse facial features, Anteverted nares, Thick... |
ORPHA:261494 |
| Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Conductive hearing impairment, Anteverted nares, Rib fusion, Wide nasal bridge, ... |
OMIM:157800 |
| Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Short neck, Micrognathia, Wide anterior fontanel, ... |
ORPHA:3338 |
| Congenital Myopathy 10B, Mild Variant |
|
Scoliosis, Hyperlordosis |
OMIM:620249 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Microtia, Low-set ears, Neonatal death, S... |
OMIM:608013 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Localized ... |
ORPHA:73223 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Hyperlordosis |
OMIM:253700 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Bulbous nose, Hip dislocation, Wide nasal bridge, Retrognathia, Protruding ear, H... |
OMIM:617403 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Long nose, Protruding ear, Abnormal facial shape, Triangular face, Long face |
ORPHA:85329 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short neck, Microg... |
OMIM:257300 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micromelia, Abnormality of the nose, M... |
ORPHA:35107 |
| Geleophysic Dysplasia 2 |
|
Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short palm, Short nose |
OMIM:614185 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Pectus excavatum, Sensorineura... |
ORPHA:261236 |
| Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Conductive hearing impai... |
ORPHA:2753 |
| Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
| Renpenning Syndrome 1 |
|
Long face, Mandibular prognathia, Narrow face, Hearing impairment, Micrognathia, Pectus excavatum... |
OMIM:309500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, A... |
OMIM:617088 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose,... |
ORPHA:46059 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Narrow face, Choanal atresia, Camptodactyly... |
ORPHA:3380 |
| Aspartylglucosaminuria |
|
Coarse facial features, Depressed nasal bridge, Anteverted nares, Kyphosis, Hypoplastic frontal s... |
OMIM:208400 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Short nose, Macrotia, Clinodactyl... |
OMIM:614225 |
| Peho Syndrome |
|
Anteverted nares, Tapered finger, External ear malformation, Malar flattening, Short nose, Macrotia |
ORPHA:2836 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Scapular winging, Pectus excavatum, Sensorineural hearing impa... |
ORPHA:500 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Posteriorly rotated ears, Kyphoscoliosis, Short neck, Mi... |
OMIM:151100 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella, Narrow chest... |
OMIM:182210 |
| Deeah Syndrome |
|
Death in infancy, Cervical hemivertebrae, Overlapping fingers, Short neck, Death in adolescence, ... |
OMIM:619004 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
| Chops Syndrome |
|
Round face, Coarse facial features, Anteverted nares, Hearing impairment, Thickened helices, Cerv... |
OMIM:616368 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Wide nasal bridge, Triangul... |
OMIM:614886 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli... |
ORPHA:522077 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia... |
OMIM:613717 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Protruding ear, E... |
OMIM:230740 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Coarse facial features, Anteverted nares, Proportionate shortening of all digi... |
ORPHA:280633 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Long nose, Prominent nose, Micro... |
ORPHA:2636 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Triangular face |
ORPHA:1174 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Abnormal facial shape |
ORPHA:289266 |
| Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Low-set ears... |
ORPHA:63259 |
| Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Sensorineural hearing... |
OMIM:618971 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:614749 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Neonatal death, Triangular face |
OMIM:614887 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Triangular face, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Low-set ears, Mesomelia... |
OMIM:613457 |
| Transaldolase Deficiency |
|
Depressed nasal bridge, Short neck, Wide anterior fontanel, Low-set ears, Triangular face |
OMIM:606003 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Abnormal pinna morphology, Sandal gap, 2-3 toe syndactyly, Talipes equinovarus, Abnorm... |
ORPHA:477817 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Long thorax, Narrow chest, Chronic otitis media, Small ea... |
OMIM:616268 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Triangular face, Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural hearing impair... |
OMIM:616541 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Micrognathia, Postaxial hand polydacty... |
OMIM:607330 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, M... |
OMIM:616503 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Pectus excavatum, Scoliosis, Short nose, Macrotia, Bro... |
ORPHA:109 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Recurrent otitis media, Micrognathia, Triangular face, Hearing impairment |
OMIM:619243 |
| Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Pectus excavatum, Missing rib... |
OMIM:147791 |
| Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Triangular face |
ORPHA:29 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Round face, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal br... |
ORPHA:1519 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Choanal atresia, Camptodactyly of finger, Abnormal dental enamel... |
ORPHA:2273 |
| Yuan-Harel-Lupski Syndrome |
|
Wide nose, Sandal gap, Clinodactyly of the 5th finger, Triangular face, Hearing impairment |
OMIM:616652 |
| Alg12-Cdg |
|
Wide nose, Sandal gap, Prominent nasal bridge, Proximal placement of thumb, Abnormal pinna morpho... |
ORPHA:79324 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Triangular face, Anteverted nares, Overlapping toe, Kyphoscoliosis, Broad ... |
OMIM:617402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hip dysplasia, Scoliosis, Hyperlordosis |
OMIM:615356 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... |
OMIM:133540 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Prominent nose, Short neck, Micrognathia, Protruding ear, Clinodactyly of ... |
OMIM:612474 |
| Rhyns Syndrome |
|
Radial bowing, Sensorineural hearing impairment, Short long bone, Short femoral neck, Conductive ... |
OMIM:602152 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Thickened helices, Micrognathia, Aplasia of the semicircular c... |
ORPHA:648 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Depressed nasal bridge, Choanal atresia, Kyphoscoliosis, Narrow nasal ridge, Rocker ... |
OMIM:275210 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Micrognathia, Abnormal facial shape, Scoliosis, Clinodactyly of the 5th finger, Clino... |
ORPHA:96182 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia, Hearing impairment |
OMIM:256600 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabia... |
ORPHA:357074 |
| Williams Syndrome |
|
Narrow face, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segme... |
ORPHA:904 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short neck, Pectus excavatum,... |
OMIM:613563 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis |
ORPHA:369840 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Depressed nasal bridge, Sandal gap, Narrow nasal ridge, Decreased fibular diameter, Underdevelope... |
OMIM:619127 |
| Muscular Dystrophy, Duchenne Type |
|
Scoliosis, Hyperlordosis |
OMIM:310200 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Recurrent sinusit... |
OMIM:604173 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... |
OMIM:312870 |
| Dend Syndrome |
|
Clinodactyly of the 4th finger, Short nose, Anteverted nares, Thickened ears |
ORPHA:79134 |
| Feingold Syndrome 1 |
|
Anteverted nares, Posteriorly rotated ears, Facial asymmetry, Micrognathia, Short thumb, Short to... |
OMIM:164280 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Prominent ear helix, Hip... |
OMIM:614438 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Narrow chest, Small earlobe, Genu varum, Long toe, Depressed nasal brid... |
OMIM:264090 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Round face, Anteverted nares, Hearin... |
ORPHA:444077 |
| Zttk Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Kyphosis, Hemivertebrae, Wide nasal bridge, Sm... |
OMIM:617140 |
| Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Triangular face, Abnormal pinna morphology, Pectus carinatum, Low-set ears, Ove... |
OMIM:609069 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Prominent nasal bridge, Hearing impairment, Broad nasal tip, Underd... |
ORPHA:268261 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Sacral dimple, Toe syndactyly, Depressed nas... |
ORPHA:1308 |
| Ogden Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, Protruding ear, Clinodactyly of the 5th fin... |
OMIM:300855 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Depressed nasal bridge, Arachnodactyly, Kyphoscoliosis, Absent thumb, Facia... |
ORPHA:500150 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Hip dislocation, Genu valgum, Finger swelling, Platyspondyly, ... |
OMIM:309000 |
| Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
| Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Hearing impairment, Abnormality of the ear, Abnormal facial shape, Short palm, ... |
ORPHA:3339 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose,... |
OMIM:619522 |
| Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Posteriorly rotated e... |
OMIM:605627 |
| Halperin-Birk Syndrome |
|
Micrognathia, Hip dislocation, Talipes equinovarus, Death in childhood, Triangular face, Hearing ... |
OMIM:618651 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Coarse facial features, Thickened ribs, Camptodactyly of finger, Diaphys... |
ORPHA:217085 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Coarse facial features, Lumbar hyperlordosis, Short neck, Lumbar kyphosis, P... |
ORPHA:505248 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis |
ORPHA:370959 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Pro... |
OMIM:619503 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Retrognathia, Hip dysplasia,... |
OMIM:619426 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Coarse facial features, Thickened ribs, Camptodactyly of finger, Diaphys... |
ORPHA:217093 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Sensorineural hearing imp... |
ORPHA:2315 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Overfolded helix, Broad face, Low-set ears, Short nose |
OMIM:613735 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Macrotia, ... |
ORPHA:3042 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Postaxial polydactyly, Micrognathia, Sensorineural hearing impairment, Scoliosis, ... |
OMIM:618460 |
| Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Micromelia, Short neck, Postaxial hand polydactyly, Low-set ears, Shor... |
OMIM:200995 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short metacarpal, Depressed nasal bridge, Anteverted nares, Brachydactyly, Broad n... |
OMIM:617157 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Triangular face |
OMIM:619264 |
| Gaucher Disease, Type I |
|
Vertebral compression fracture, Epistaxis, Erlenmeyer flask deformity of the femurs |
OMIM:230800 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Facial asymmetry, Short neck, Micrognathia, Wide nasal bridge, Microtia, Short ... |
ORPHA:2282 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Alexander Disease |
|
Large face, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:58 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Scoliosis |
OMIM:619179 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:613327 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Choanal stenosis, Low-set ears, Short nose, Maxillozygomatic ... |
ORPHA:1790 |
| Prolidase Deficiency |
|
Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia |
OMIM:170100 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia |
OMIM:234050 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Conductive hearing impairment,... |
ORPHA:199 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Abnormality of the temporomandibular joint, Scoliosis, Hyperlordosis |
ORPHA:258 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Arachnodactyly, Posteriorly rotated ears, Hearing impairment, Facial asymmetry... |
OMIM:601776 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Micrognathia, C... |
OMIM:602398 |
| Pallister-Hall Syndrome |
|
Depressed nasal ridge, Hemivertebrae, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, M... |
ORPHA:672 |
| Distal Deletion 15Q |
|
Coarse facial features, Hearing impairment, Broad nasal tip, Micrognathia, 2-3 toe cutaneous synd... |
ORPHA:1596 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Scapular winging, Spinal rigidity, Hyperlordosis |
ORPHA:268 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Sacral dimple, Anteverted nares, Sandal ... |
ORPHA:363611 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Anterior wedging of T12, Complete duplication of thumb ... |
OMIM:227645 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Sensorineura... |
ORPHA:2719 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Hemivertebrae, Abnormal ... |
OMIM:118450 |
| Degcags Syndrome |
|
Prominent nose, Micrognathia, Abnormal facial shape, Syndactyly, Anteverted nares, Short thumb, L... |
OMIM:619488 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Scoliosis, Short nose |
ORPHA:280200 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ... |
ORPHA:2232 |
| Partington Syndrome |
|
Triangular face |
ORPHA:94083 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Narrow face, Sandal gap, Posteriorly rotated ears, Short neck, Broad nasal... |
OMIM:620330 |
| Cadds |
|
Short nose, Micrognathia, Sensorineural hearing impairment |
ORPHA:369942 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tali... |
ORPHA:573278 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Hearing impairment, Carious teeth, Metaphyseal chondrodyspl... |
ORPHA:811 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose |
OMIM:613038 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Long face, Sacral dimple, Toe syndactyly, Depressed nasal brid... |
ORPHA:709 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Vertebral compression fracture, Cervical spinal canal stenosis |
OMIM:620232 |
| Cole-Carpenter Syndrome 1 |
|
Vertebral compression fracture, Dentinogenesis imperfecta, Scoliosis, Micrognathia |
OMIM:112240 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Triangular face, Depressed nasal bridge, Sensorineural hearing impairment, Low-set ears, Death in... |
OMIM:300661 |
| Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Kyphoscoliosis, Short neck, Hearing impairment, Micrognathi... |
OMIM:163950 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Broad nasal t... |
OMIM:617330 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Triangular face, Low-set ears |
ORPHA:65288 |
| Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Wide nose, Otosclerosis, Coarse facial features, Sensorineural ... |
ORPHA:580 |
| Mevalonic Aciduria |
|
Posteriorly rotated ears, Kyphoscoliosis, Underdeveloped nasal alae, Low-set ears, Triangular face |
OMIM:610377 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Retrognathia, Protruding ear, Short nose, Macrotia |
OMIM:601675 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... |
ORPHA:51608 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis |
OMIM:184850 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Abnormal pinna morphology, Down-sloping shoulders, Kyphoscolios... |
OMIM:309800 |
| Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
| Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Coarse facial features, Anteverted nares, Kyphosis, Bulbous nose, Cupped ear, Oval fac... |
OMIM:619475 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Hypoplastic vertebral bodies, Long toe, Anteverted nares, 2-3 toe syndact... |
ORPHA:3455 |
| Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Hip dyspl... |
ORPHA:2729 |
| Vascular Ehlers-Danlos Syndrome |
|
Narrow nasal bridge, Congenital hip dislocation, Pectus excavatum, Carious teeth, Vertigo, Aplasi... |
ORPHA:286 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Long nose, Triangular face |
ORPHA:85327 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Short nose, Depressed nasal bridge |
OMIM:605309 |
| Alagille Syndrome 2 |
|
Long nose, Triangular face |
OMIM:610205 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... |
ORPHA:1435 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Wide nose, Micrognathia, Depressed nasal ridge, Clinodactyly o... |
ORPHA:1052 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Hallux valgus, Prominent nasal bridge, Kyphoscoliosis, Prominent nose, Synos... |
ORPHA:466791 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, Camptodactyly of 2nd-5th fingers, Short pal... |
OMIM:601803 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarse facial features, Posteriorly rotated ears, Talipes equinovarus, Low-set ears, Triangular f... |
OMIM:617260 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Pectus excavatum, Pectus ca... |
OMIM:609942 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Narrow face, Cupped ear, Protruding ear, Triangular face, Long face |
ORPHA:93947 |
| Pmm2-Cdg |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Kyphoscoliosis, Prominent nose, ... |
ORPHA:79318 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Long face |
OMIM:252160 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Short nose, Anteverted nares, Hearing impairment |
ORPHA:96147 |
| Autosomal Dominant Cutis Laxa |
|
Hip dislocation, Protruding ear, Abnormal curvature of the vertebral column, Talipes equinovarus,... |
ORPHA:90348 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hearing impairment, Scoliosis, Hyperlordosis |
ORPHA:365 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Micrognathia, Long ear, Broad nasal tip |
ORPHA:293948 |
| Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Micrognathia, Sensorineural hearing impairment, Low-set ears, ... |
OMIM:242840 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Triangular face, 2-3 toe syndactyly |
OMIM:616539 |
| Williams-Beuren Syndrome |
|
Hallux valgus, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Down-sl... |
OMIM:194050 |
| Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, T... |
OMIM:619575 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Triangular face, Hearing impairment, Prominent nose |
OMIM:615510 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Long face |
OMIM:252150 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... |
OMIM:229400 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short nose, Convex nasal ridge, Genu valgum |
OMIM:619321 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Coarse facial features, Wide anterior fontanel, Abnormal ear... |
ORPHA:116 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Large hands, Macrotia, Triangular face |
OMIM:608594 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Narrow nasal ridge, Low-set ears, Short nose, Tinnitus, Triangular face |
OMIM:606721 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Large hands, Macrotia, Triangular face |
OMIM:269700 |
| Woodhouse-Sakati Syndrome |
|
Prominent nasal bridge, Sensorineural hearing impairment, Protruding ear, Triangular face, Hearin... |
OMIM:241080 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology |
ORPHA:2396 |
| Porphyria, Congenital Erythropoietic |
|
Vertebral compression fracture, Erythrodontia |
OMIM:263700 |
| Liver Disease, Severe Congenital |
|
Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Recurrent otitis media, Triangular face... |
OMIM:619991 |
| Woodhouse-Sakati Syndrome |
|
Triangular face, Protruding ear, Bilateral sensorineural hearing impairment, Prominent nose |
ORPHA:3464 |
| Multiple Myeloma |
|
Vertebral compression fracture |
ORPHA:29073 |
| Cushing Disease |
|
Vertebral compression fracture, Moon facies |
ORPHA:96253 |
| Penile Agenesis |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Bilateral talipes equinovarus |
ORPHA:49 |
| Bartter Syndrome Type 4 |
|
Triangular face, Bilateral sensorineural hearing impairment, Protruding ear |
ORPHA:89938 |
| Bartter Syndrome, Type 2, Antenatal |
|
Macrotia, Triangular face |
OMIM:241200 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Vertebral compression fracture, Moon facies |
ORPHA:99889 |
