Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Fibrochondrogenesis 1 |
|
Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5... |
OMIM:228520 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... |
OMIM:602471 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Short neck, Hy... |
ORPHA:93333 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip... |
OMIM:250460 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Fibrochondrogenesis |
|
Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hy... |
ORPHA:2021 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Hearing impairment, Abnorm... |
ORPHA:1856 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... |
ORPHA:1570 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Acrodysostosis |
|
Micromelia, Short metatarsal, Abnormal form of the vertebral bodies, Abnormality of the nail, Hyp... |
ORPHA:950 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... |
OMIM:187601 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Micrognathia, Hypertelorism, Wid... |
OMIM:619135 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... |
OMIM:616716 |
Isotretinoin Syndrome |
|
Sacral dimple, Micrognathia, Microtia, Biparietal narrowing, Spina bifida occulta |
ORPHA:2305 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Abnormal form of the verte... |
ORPHA:2831 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Deeply set eye, Hyp... |
OMIM:260660 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Vertebral segmentation d... |
ORPHA:1323 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Lon... |
OMIM:102370 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Small han... |
ORPHA:969 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ... |
OMIM:619636 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Omodysplasia 2 |
|
Short humerus, Dyspareunia, Posteriorly rotated ears, Micrognathia, Hypertelorism, Cryptorchidism... |
OMIM:164745 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Narrow chest, Hypoplast... |
ORPHA:1452 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Abnormal fingernail morphology, Sh... |
ORPHA:93384 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Turricephaly, Brachydactyly, Abnormal denta... |
ORPHA:1005 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Hypertelorism, ... |
ORPHA:79107 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, W... |
ORPHA:2779 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachyce... |
ORPHA:1514 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... |
ORPHA:440354 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Shallow orbits, Short... |
OMIM:166250 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Paternal Uniparental Disomy Of Chromosome X |
|
Low-set, posteriorly rotated ears, Short metacarpal, Short neck, Low posterior hairline, Shield c... |
ORPHA:261524 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... |
OMIM:615222 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphoscoliosis, Wide ... |
OMIM:618853 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Abnormal rib morphology, R... |
ORPHA:1988 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Absent fing... |
ORPHA:3258 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short metatarsal, Hypotelorism, Irregular vertebral endplates, Bilateral coxa valga... |
ORPHA:439822 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Cryptorchidism, Short metatarsal, Spinal canal stenosis, Advanced ossification ... |
OMIM:614613 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Microcephaly, Dental malocclusion, Pectus carinatum, Abnormal calvaria mor... |
ORPHA:3079 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... |
ORPHA:1512 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Protruding ear, Con... |
OMIM:190350 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h... |
OMIM:171480 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Th... |
OMIM:618395 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... |
OMIM:142900 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Abnormal fingernail morphology, Micrognathia, Preaxial hand polydactyly, Radial... |
ORPHA:1278 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of... |
ORPHA:77258 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Coarse hair, Narrow chest,... |
OMIM:309350 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypertelorism, ... |
OMIM:212780 |
Campomelic Dysplasia |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Conductive hearing impairment, Abnormality of ... |
ORPHA:95699 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th... |
ORPHA:370010 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Pes planus, Short metacarpal, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, ... |
OMIM:612350 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Coxa valga... |
OMIM:248800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Dolichoc... |
ORPHA:3144 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Abnormal... |
ORPHA:1860 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... |
ORPHA:85198 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum... |
ORPHA:3268 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Wide nasal bridge, Irre... |
OMIM:222765 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... |
OMIM:200980 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Abnormal pinna morphology, Single tr... |
OMIM:123450 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finge... |
ORPHA:1520 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Short neck, Micrognathia, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Hypert... |
ORPHA:2256 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Hypertelorism, Highly arched e... |
ORPHA:263463 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... |
OMIM:617102 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Hy... |
OMIM:252500 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Hypertelorism, Kyphosis, Cone-shaped... |
ORPHA:420794 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... |
OMIM:118651 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metatarsal, Deeply set eye, Sparse hair, Short metacarpal, Rhizomelia, Hypertel... |
OMIM:614813 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Hypertelorism, Micrognathia, Synophrys, Microtia, Low-set ears, Clinodact... |
ORPHA:357175 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Ti... |
ORPHA:96334 |
Toluene Embryopathy |
|
Tapered finger, Micrognathia, Microcephaly, Protruding ear, Hypoplasia of the zygomatic bone, Bip... |
ORPHA:1920 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Decreased fertility, Low posteri... |
ORPHA:2233 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... |
OMIM:211350 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous finger syndactyly, Narrow chest, Con... |
OMIM:601390 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad me... |
OMIM:618724 |
Tetraploidy |
|
Micrognathia, Microcephaly, Radial club hand, Biparietal narrowing, Hypoplasia of the ear cartilage |
ORPHA:3305 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus, Absent fingernail, Limit... |
OMIM:276821 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous finger... |
OMIM:615546 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... |
ORPHA:2141 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... |
ORPHA:228396 |
Dystonia-Deafness Syndrome 1 |
|
Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis |
OMIM:607371 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Hypertelorism, Micrognathia, Synophrys, Microtia, Low-set ears, Clinodact... |
OMIM:615162 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Hypertelorism, Cryptorchidism, Patell... |
ORPHA:93328 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K... |
OMIM:615777 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Hyp... |
OMIM:269860 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Synophrys, Wide nasal bridge, Adducted thumb |
ORPHA:3207 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Potocki-Shaffer Syndrome |
|
Brachydactyly, 2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal... |
OMIM:601224 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Micrognathia, Abnormal hair morphology, Osteolytic defects of the phal... |
OMIM:277150 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Synophrys, Low anterio... |
OMIM:618658 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Cryptorchidis... |
ORPHA:3121 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612463 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Hypertelorism, Short neck, Short metatarsal, Wide nasal bridge, Con... |
OMIM:613328 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short... |
OMIM:614814 |
Craniodiaphyseal Dysplasia |
|
Frontal bossing, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide... |
ORPHA:1513 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular... |
OMIM:143095 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,... |
OMIM:600969 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Short third metatarsal, Hand muscle atrophy, Thoracic scoliosis, Distal lower limb amyotrophy, Ca... |
ORPHA:324442 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral... |
ORPHA:1190 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Hypoplastic toenails, 2-3 toe cutaneous syndactyly... |
ORPHA:96148 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic vertebral bodies, Short palm, Short ... |
OMIM:101800 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sp... |
OMIM:607323 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hypertelorism, Short metatarsal, 2-3 toe syndactyly, Sympha... |
ORPHA:1540 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Short thumb, Cryptorchidism, Abnormal antihelix morphology, Hypoplasia of the a... |
ORPHA:2489 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte... |
OMIM:605282 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Lamb-Shaffer Syndrome |
|
Frontal bossing, Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Wide nasal ... |
OMIM:616803 |
Zechi-Ceide Syndrome |
|
Sandal gap, Thick hair, Short metatarsal, Abnormal earlobe morphology, Wide nasal bridge, Microti... |
ORPHA:217017 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, ... |
OMIM:263650 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Amenorrhea, Osteolytic defects of the p... |
OMIM:600705 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly |
ORPHA:35099 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Sensorineural hearing impairment, Abnormal form of ... |
ORPHA:1458 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Tapered finger, Wide nasal bridge, Thin eyebrow, Clinodactyly of the 5th finger,... |
OMIM:618147 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormalit... |
OMIM:609324 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Low anterior hairline, Pectus carinatum, F... |
OMIM:212720 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Proximal placemen... |
OMIM:300590 |
Macrocephaly, Benign Familial |
|
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly |
OMIM:153470 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Hypertelorism, Sh... |
OMIM:170390 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands,... |
OMIM:102150 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Hypertelorism, Cryptorchidism, Long nose, Abnormal rib morp... |
ORPHA:52 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Short thumb, H... |
ORPHA:2319 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Abnormal pinna morphology, Cryptorchidism, Se... |
OMIM:607143 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn... |
OMIM:215150 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Posteriorly rotated ears, Highly arched eyebrow, Microgn... |
OMIM:613684 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Vertebral segmentation defect, Bip... |
ORPHA:1915 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Single transverse palmar crease, Sh... |
OMIM:616651 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Short neck, Narrow foot, Deeply set eye... |
OMIM:610954 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short palm, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short ne... |
ORPHA:85293 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... |
OMIM:258480 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... |
ORPHA:2557 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... |
ORPHA:1275 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Metatarsus val... |
ORPHA:1388 |
Trigonocephaly 2 |
|
Trigonocephaly, Depressed nasal bridge, Wide nasal bridge |
OMIM:614485 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conducti... |
OMIM:150250 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Highly arched eyebrow, Hypertelorism, Kyphosis, Synop... |
OMIM:617190 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... |
OMIM:314390 |
Zechi-Ceide Syndrome |
|
Sandal gap, Short metatarsal, Wide nasal bridge, Small nail, Long foot, Short distal phalanx of f... |
OMIM:612916 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Hypotelorism, Conductive ... |
ORPHA:2980 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypertelorism, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum,... |
ORPHA:166024 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis, Retrognathia |
OMIM:618022 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss... |
ORPHA:337 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Short metatarsal, Low anter... |
OMIM:617137 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi... |
ORPHA:959 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Short neck, Coxa val... |
ORPHA:1425 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Reduced bone mineral de... |
ORPHA:2370 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormali... |
ORPHA:3098 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Frontal bossing, Depressed nasal bridge, Anteve... |
OMIM:617364 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Long nose,... |
OMIM:618143 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Macrotia, Limitation o... |
ORPHA:3080 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Short ne... |
OMIM:618393 |
Metaphyseal Acroscyphodysplasia |
|
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro... |
ORPHA:1240 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... |
OMIM:113300 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... |
OMIM:619638 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossificatio... |
OMIM:103580 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... |
OMIM:609441 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Ring Chromosome 4 Syndrome |
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Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Paget Disease Of Bone 2, Early-Onset |
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Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Brachydactyly-Arterial Hypertension Syndrome |
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Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Linear Verrucous Nevus Syndrome |
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Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone miner... |
ORPHA:2611 |
Shox-Related Short Stature |
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Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal mu... |
ORPHA:314795 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Spondylocarpotarsal Synostosis Syndrome |
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Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Acrofacial Dysostosis, Palagonia Type |
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Finger syndactyly, Posteriorly rotated ears, Sparse eyelashes, Short neck, Micrognathia, Small ha... |
ORPHA:1787 |
Tetrasomy X |
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Premature ovarian insufficiency, Hypertelorism, Joint hyperflexibility, Radioulnar synostosis, Hi... |
ORPHA:9 |
Polydactyly, Postaxial, Type A7 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Melnick-Needles Syndrome |
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Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... |
OMIM:618019 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
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Flattened knee epiphyses, Wide nasal bridge, Broad nasal tip |
OMIM:600093 |
Mesomelia-Synostoses Syndrome |
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Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... |
OMIM:600383 |
Postaxial Acrofacial Dysostosis |
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Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
Catel-Manzke Syndrome |
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Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the ... |
OMIM:616145 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Hypopigmentation of the skin, Single transverse palmar crease, Abnormality of hair texture, Short... |
OMIM:601957 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Short fourth metatarsal, Short neck, Hypertelorism, Cryptorchidism, Sensorineural hearing impairm... |
ORPHA:464288 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Brachycephaly, Plagioc... |
OMIM:618577 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Microcephaly, Biparietal narrowing, Low... |
ORPHA:251038 |
Acrofacial Dysostosis, Rodríguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Hand-Foot-Genital Syndrome |
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Shortening of all middle phalanges of the fingers, Sacral dimple, Hypoplastic fifth toenail, Misc... |
ORPHA:2438 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Short neck, Low posterior... |
ORPHA:2183 |
W Syndrome |
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Hypoplasia of the ulna, Pes planus, Radial bowing, Hypertelorism, Metatarsus adductus, Elbow disl... |
ORPHA:2804 |
Acrorenal Syndrome |
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Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Monosomy 5P |
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Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Recurrent fractures, Sho... |
ORPHA:281 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
16Q24.3 Microdeletion Syndrome |
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Frontal bossing, Proximal placement of thumb, Micrognathia, Kyphosis, Protruding ear, Hip dysplas... |
ORPHA:261250 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Coffin-Lowry Syndrome |
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Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear,... |
ORPHA:192 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Atelosteogenesis, Type Ii |
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Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... |
OMIM:256050 |
Diastrophic Dysplasia |
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Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Abnormal for... |
ORPHA:628 |
8P23.1 Microdeletion Syndrome |
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Broad hallux phalanx, Proximal placement of thumb, Micrognathia, Short neck, Microcephaly, Tapere... |
ORPHA:251071 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
15Q14 Microdeletion Syndrome |
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Microcephaly, Kyphosis, Biparietal narrowing, Low-set ears, Scoliosis |
ORPHA:261190 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
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Anteverted nares, Wide nasal bridge, 2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly |
OMIM:619311 |
Trochlea Of The Humerus, Aplasia Of |
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Short humerus |
OMIM:191000 |
Grant Syndrome |
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Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib mor... |
ORPHA:2097 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Protruding ear, Biparietal narrowing, Scoliosis, Microcephaly |
ORPHA:2518 |
2Q31.1 Microdeletion Syndrome |
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Short neck, Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterio... |
ORPHA:251014 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... |
OMIM:210710 |
Non-Distal Duplication 10Q |
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Frontal bossing, Depressed nasal bridge, Micrognathia, Pectus excavatum, Brachycephaly, Short nos... |
ORPHA:1695 |
Occipital Horn Syndrome |
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Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Kyph... |
OMIM:304150 |
Anauxetic Dysplasia 2 |
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Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... |
OMIM:300434 |
Moebius Syndrome |
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Short neck, Micrognathia, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Sho... |
OMIM:157900 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Baller-Gerold Syndrome |
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Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Spina b... |
OMIM:218600 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Blomstrand Lethal Chondrodysplasia |
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Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Ulnar-Mammary Syndrome |
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Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Chromosome 2Q37 Deletion Syndrome |
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Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Sensorineural hearin... |
OMIM:600430 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Short femur, Anterior encephalocele, Foot oligodactyly, Low-set ears, Scoliosis, Amelia |
OMIM:601357 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Split-Hand/Foot Malformation 4 |
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Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Pseudohypoparathyroidism, Type Ic |
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Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Hypogonadism, Brachydactyly |
OMIM:612462 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Osteopenia, Sandal gap, Posteriorly rotated ears, Pectus excavatum, Conductive ... |
OMIM:617877 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Low-set, posteriorly rotated ears, Microtia, Biparietal narrowing, Atresia of the external audito... |
ORPHA:1770 |
Non-Distal Deletion 10Q |
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Clinodactyly of the 5th finger, Overlapping fingers, Biparietal narrowing, Brachydactyly |
ORPHA:1581 |
Weaver Syndrome |
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Micrognathia, Hypoplastic toenails, Low-set, posteriorly rotated ears, Finger syndactyly, Deep-se... |
ORPHA:3447 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Coarse metaphyseal trabecularization, Hypertelorism, Increased intervertebral space, Thoracic pla... |
OMIM:618961 |
Adenylosuccinate Lyase Deficiency |
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Short nose, Flat occiput, Anteverted nares, Brachycephaly |
ORPHA:46 |
C Syndrome |
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Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, M... |
OMIM:211750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Osteopenia, Hypoplasia of the ulna, Pectus excavatum, Osteoporosis, Ankle clonus, Low-set ears, S... |
OMIM:615398 |
Gómez-López-Hernández Syndrome |
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Turricephaly, Anteverted nares, Brachycephaly, Alopecia of scalp, Toenail dysplasia, Midface retr... |
ORPHA:1532 |
Summitt Syndrome |
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Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Genu valgum, Short p... |
ORPHA:3210 |
Cranioectodermal Dysplasia 1 |
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Single transverse palmar crease, Hypotelorism, Protruding ear, Narrow chest, Sparse hair, Joint l... |
OMIM:218330 |
Joubert Syndrome |
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Abnormal form of the vertebral bodies, Hand polydactyly, Foot polydactyly, Scoliosis, Biparietal ... |
ORPHA:475 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Epiphyseal Dysplasia, Multiple, 6 |
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Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Osteopenia, Sparse facial hair, Sparse axillary hair, Sensorineural hearing impairment, Genu valg... |
OMIM:608154 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abn... |
ORPHA:177910 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Depressed nasal bridge, Anteverted nares, Sandal gap, Postaxial polydactyly, Micrognathia, Bulbou... |
OMIM:615761 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... |
OMIM:184705 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Micrognathia, Microcephaly, Biparietal narrowing, Scoliosis |
ORPHA:238769 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Short fourth metatarsal, Overlapping toe, Absent earlobe, Kyphosis, Bilateral camptodactyly, Syno... |
OMIM:619557 |
Cornelia De Lange Syndrome 5 |
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Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip... |
OMIM:300882 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Frontal bossing, Microcephaly, Brachycephaly, Symphalangism affecting the phalanges of the hand, ... |
ORPHA:1292 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Trisomy 4P |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal hair pattern, Short neck, Hy... |
ORPHA:1738 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Hypertelorism, Kyphosis, Upper limb undergrowth, Lower limb hypertonia... |
OMIM:169400 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Short neck, Microcephaly, Micromelia, ... |
ORPHA:99776 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypertelorism, Cryptorchidi... |
ORPHA:96097 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abnormal f... |
ORPHA:163649 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... |
ORPHA:508533 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narrowing, Scol... |
ORPHA:220493 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Low anterior hairline, Brachycephaly, Cone-shaped epiphyses... |
OMIM:602849 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... |
ORPHA:2167 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Hypertelorism, Delayed epiphyseal ... |
ORPHA:166016 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... |
ORPHA:1001 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Micrognathia, Bra... |
ORPHA:251019 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Peho Syndrome |
|
Microcephaly, Tapered finger, External ear malformation, Biparietal narrowing, Malar flattening, ... |
ORPHA:2836 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal... |
ORPHA:2145 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Ring Chromosome 6 Syndrome |
|
Hypertelorism, Short neck, Wide nasal bridge, Low posterior hairline, Macrotia, Short distal phal... |
ORPHA:1448 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narrowing, Scol... |
ORPHA:2318 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Pectus excavatum, Wide nasal bridge, Short palm, Clinodactyly |
ORPHA:73273 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... |
OMIM:600092 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, ... |
OMIM:613792 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly, Wide nasal bridge, Dolichocephaly, Prominent nose |
OMIM:617169 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Plagiocephaly, ... |
ORPHA:11 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Frontal bossing, Broad hallux, 1-3 toe syndactyly, Trigonocephaly, Craniosy... |
OMIM:175700 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Partial albinism, Prominent nasal bridge, Camptodactyly of finger, Synophrys, B... |
OMIM:148820 |
Velo-Facial-Skeletal Syndrome |
|
Prominent fingertip pads, Abnormal thumb morphology, Wide nasal bridge, Large hands, Short palm, ... |
ORPHA:3424 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... |
ORPHA:2790 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Highly arched eyebrow, Broad nasal tip, Craniosynostosis, Pectus excav... |
OMIM:619451 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Brachydactyly, Flat occiput, Abnormal thumb morphology, Pectus excavatum, Ab... |
ORPHA:2511 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Thickened helices, Joint stiffness, Sho... |
OMIM:608328 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Short neck, Microgn... |
OMIM:611890 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,... |
ORPHA:1352 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... |
ORPHA:319195 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Highly ar... |
ORPHA:1327 |
Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Parietal foramina, Micrognath... |
ORPHA:52022 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Short neck, Micrognathia, Cryptorchid... |
ORPHA:3404 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... |
ORPHA:1801 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Hypertelorism, Short long bone, Microtia, Limb undergrowth, Short no... |
ORPHA:221054 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Hypertelorism, Ab... |
ORPHA:1597 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Posteriorly rotated ears, Flexion contracture, Hype... |
OMIM:619479 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... |
OMIM:130070 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Preax... |
ORPHA:380 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Anteverted nares, Tapered finger, Depressed nasal ridge, Small hand, Brachycephaly, Low posterior... |
OMIM:618672 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ri... |
OMIM:618774 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Synophrys,... |
OMIM:193510 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Hypotelorism, Conductive hearing impairment, Clinodac... |
ORPHA:3082 |
Lig4 Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, Biparietal narrowing, Clinodactyly of the 5th finger |
ORPHA:99812 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, 11 pairs of ribs, Brachydactyly, Depressed nasal bridge, Broad hallux, Clino... |
OMIM:620073 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Hand polydactyly, Biparietal narrowing, Scoliosis |
ORPHA:220497 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hypopigmented skin patches, B... |
ORPHA:53271 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Posteriorly rotated ears, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossif... |
OMIM:618392 |
Charlie M Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Split hand, Wide nasal bridge, T... |
ORPHA:1406 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Congenital diaph... |
OMIM:305600 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... |
ORPHA:189 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Postaxial polydactyly |
OMIM:612913 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... |
OMIM:300232 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Micrognathia, Limited knee fle... |
OMIM:258315 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... |
OMIM:617866 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Biparietal narrowing, Low-set, posteriorly rotated ears, Protrudi... |
ORPHA:2031 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Sacral dimple, Toe syndactyly, Camptodactyly of finger, M... |
ORPHA:261337 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia... |
ORPHA:93329 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Abnormal pinna morphology, Hypertelorism, Pectus excavatum, Cryptorchidism, Widow's peak, Small h... |
OMIM:614684 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse... |
ORPHA:536471 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonado... |
ORPHA:79444 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cr... |
ORPHA:2896 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:2007 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Hypoplasia o... |
OMIM:264180 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Slender long bones with narrow diaphyses, Sensorineural hear... |
ORPHA:50811 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Frontal bossing, Arachnodactyly, Hyperconvex nail, Postaxial polydactyl... |
OMIM:619721 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly, Wide nasal bridge, Hirsutism |
OMIM:300804 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femo... |
OMIM:620076 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, B... |
OMIM:616854 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic... |
OMIM:600325 |
Monosomy 18Q |
|
Mandibular prognathia, Arachnodactyly, Kyphoscoliosis, Microcephaly, Tapered finger, Pectus excav... |
ORPHA:1600 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Reduced bone mineral density, Sparse hair, Hypopigmentation of the skin, Abnormality ... |
ORPHA:2909 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod... |
OMIM:261990 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Diaphyseal sclerosis, Wide nas... |
OMIM:122860 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Brachycephaly, Dolichocephaly, Clinodactyly... |
OMIM:617752 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Syndactyly, Mesoaxial polydactyly, Micrognath... |
ORPHA:2754 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Turricephaly,... |
ORPHA:171839 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... |
OMIM:268305 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Short neck, Hypertelorism, Cryptorchidism, Short toe, High anterior hai... |
OMIM:602342 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Craniosynostosis, Brachycephaly, Melanocytic nevus, Midface retrusion |
OMIM:612247 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Pierpont Syndrome |
|
Joint laxity, Pes planus, Posteriorly rotated ears, Uplifted earlobe, Short neck, Hypertelorism, ... |
ORPHA:487825 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnorm... |
ORPHA:1149 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Irregular vertebral endplates, Knee dislocation, Microretrognathia, Hyperlordosis, ... |
OMIM:618363 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Deep-set nails, Overlapping toe, Single transverse palmar crease, Posteriorly r... |
OMIM:201170 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Thoracic hypoplasia, Hypoplastic ischia, Micrognathia, Hypopla... |
OMIM:614524 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Prominent nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Wide nasal bridg... |
OMIM:617927 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal morphology of ulna, Short neck, Pect... |
ORPHA:1340 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Short neck, Hypertelorism, Sensorineural hearing impa... |
OMIM:614230 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Low anterior hairline, Narrow chest, 2-... |
OMIM:617746 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... |
ORPHA:163654 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge,... |
OMIM:615834 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Hypertelorism, Abnormal thumb morphology, Sensori... |
ORPHA:1825 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nec... |
OMIM:263210 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Micrognathia, Microcephaly, Postaxial hand po... |
ORPHA:46059 |
Chromosome 16Q22 Deletion Syndrome |
|
Broad hallux, Single transverse palmar crease, Posteriorly rotated ears, Micrognathia, Short neck... |
OMIM:614541 |
Ring Chromosome 1 Syndrome |
|
Clinodactyly of the 5th finger, Anteverted nares, Wide nasal bridge, Abnormal hair pattern |
ORPHA:1437 |
Steel Syndrome |
|
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hypertelorism, Sensorineural hearing impairm... |
OMIM:615155 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonado... |
ORPHA:79443 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hearing impairment... |
OMIM:620099 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen... |
ORPHA:84 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Abnormal m... |
ORPHA:1307 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Limited e... |
OMIM:261540 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Micrognathia, Brachycephaly... |
ORPHA:1387 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Tapered finger, Synophrys, Wide nasal bridge, Brachycephaly, Horizontal eyebrow, Clinodactyly of ... |
ORPHA:352530 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Pectus excavatum, Kyphosis, Hypertelorism, Pectus carinatum, Large hands, Scoliosis |
ORPHA:276630 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Brachycephaly, Wide nasal bridge, Pigmentary retinopathy |
OMIM:264470 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... |
ORPHA:1147 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypertelorism, Flar... |
ORPHA:93346 |
Tetrasomy 9P |
|
Myositis, Short neck, Micrognathia, Deeply set eye, Inappropriate behavior, Clinodactyly of the 5... |
ORPHA:3310 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Micrognath... |
OMIM:610758 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Short neck, Metatarsus adductus, Hypertelorism, Synop... |
ORPHA:289522 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe... |
OMIM:210600 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... |
ORPHA:1355 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypopigmen... |
ORPHA:1784 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... |
ORPHA:264450 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Equinovarus deformity, Micrognathia... |
ORPHA:1143 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Hypotelorism, Deeply set eye, Narrow chest, Genera... |
OMIM:264090 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Short neck, Micr... |
ORPHA:1486 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... |
ORPHA:93315 |
Trisomy 5P |
|
Hypertelorism, Protruding ear, Scoliosis, Abnormal metacarpal morphology |
ORPHA:1742 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, M... |
OMIM:114300 |
49,Xyyyy Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Decreased testicula... |
ORPHA:99330 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Wi... |
OMIM:259420 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall... |
ORPHA:949 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
8Q12 Microduplication Syndrome |
|
Short foot, Brachycephaly, Wide nasal bridge, Highly arched eyebrow |
ORPHA:228399 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Craniosynostosis, Microgna... |
ORPHA:166035 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Wide nasal bridge... |
OMIM:618188 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia, ... |
OMIM:268300 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Abnormality of the nail, Large tarsal... |
ORPHA:3168 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Malar prominence, Hyperlordosis, Micrognathia, Short neck, Microcep... |
ORPHA:2522 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... |
OMIM:156550 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec... |
OMIM:108721 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ... |
ORPHA:85184 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis, Micro... |
OMIM:251230 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... |
OMIM:615994 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation |
OMIM:620200 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Spina bi... |
OMIM:109400 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... |
ORPHA:221120 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Synop... |
ORPHA:2077 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Postnatal growth retardation, 2-4 toe syndactyly, Wide nasal bridge, H... |
OMIM:272440 |
Vitamin K Antagonist Embryofetopathy |
|
Hearing impairment, Short neck, Hypertelorism, Myelomeningocele, Punctate vertebral calcification... |
ORPHA:1914 |
Ivic Syndrome |
|
Aplastic clavicle, Hearing impairment, Joint stiffness, Preaxial hand polydactyly, Short thumb, H... |
ORPHA:2307 |
Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral... |
OMIM:619345 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose, Synophrys, L... |
OMIM:618828 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint laxity, Wide nasal bridge, Short clavicles, Short 4th metacarpal |
OMIM:606220 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f... |
OMIM:605130 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Camptodactyly of finger, Sparse axi... |
OMIM:256040 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Synophrys, Low anterior hairline, Wide nasal bridge |
OMIM:619844 |
Gand Syndrome |
|
Long toe, Broad nasal tip, Long fingers, Wide nasal bridge, Sparse hair |
OMIM:615074 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Conductive hearing impairment, Wide nasal bridge, Short foot, Microtia, Joint contr... |
OMIM:248910 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Hypertelorism, Joint stiffness, Kyphosis, Osteolysis, W... |
ORPHA:137834 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... |
ORPHA:915 |
Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Synophrys, Wide nasal bridge |
ORPHA:3366 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hypoplasia of the femoral head, Hypertelor... |
OMIM:607014 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wid... |
OMIM:207410 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Abnor... |
ORPHA:570 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... |
OMIM:194350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... |
OMIM:607095 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Brachycephaly, Choanal s... |
OMIM:619859 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Clinodactyly of... |
OMIM:619910 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Posteriorly rotated ears, Hypertelorism, Wide anterior f... |
OMIM:239710 |
White Forelock With Malformations |
|
Hypertelorism, White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... |
OMIM:154780 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse... |
OMIM:250410 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy, Hypertelorism, Metaphyseal widening, Cranial hyperostosis... |
OMIM:123000 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Hypertelorism, Kyphosis, Osteoporosis, Irregular vertebral endplates, Plat... |
OMIM:234250 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Frontal upsweep of hair, Wide nasal bridge, Trigonocephaly |
OMIM:300983 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Central heterochromia, Short neck, Micr... |
ORPHA:233 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Joint laxity, Decreased muscle mass, Posteriorly rotated ears, Thick hair, Highly arched eyebrow,... |
OMIM:617773 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,... |
ORPHA:3409 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Synophr... |
OMIM:619841 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnor... |
ORPHA:3138 |
Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, Pectus exca... |
OMIM:179613 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Metaphyseal dysplasia, Abnormal nasopharynx morphology, Abnormal thorax morphology, Flared metaph... |
OMIM:218400 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Proptosis, S... |
ORPHA:370930 |
Mosaic Trisomy 14 |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia,... |
ORPHA:1703 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, A... |
OMIM:250420 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Pectus excavatum, ... |
OMIM:607131 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Bip... |
ORPHA:818 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Frontal bossing, Widow's peak, 2-3 toe cutaneous syndactyly, Brachycephaly, Fine hair, Horizontal... |
OMIM:615828 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Short hallux, Hyperteloris... |
ORPHA:3224 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Abnormality of retinal pigmentation, Abnormal foot mor... |
ORPHA:773 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Femoral bowing, Pectus carinatum, Enlarged thorax, Protruding ear, Reduc... |
OMIM:614856 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Pectus carinatum, Protr... |
OMIM:303600 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
Tarp Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavat... |
OMIM:311900 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Coarse hair, Narrow chest, Short palm, La... |
ORPHA:198 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Short palm, S... |
OMIM:249420 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Postnatal growth retardation, Wide nasal bridge, Multip... |
ORPHA:3369 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e... |
ORPHA:3041 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Cervical kyphosis, Highly arched eyebrow, Tapered finger, Short neck, Thick hair, Small hand, Sho... |
ORPHA:401923 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitati... |
ORPHA:3101 |
Joubert Syndrome With Hepatic Defect |
|
Postaxial hand polydactyly, Macrocephaly, Biparietal narrowing, Low-set ears, Scoliosis |
ORPHA:1454 |
Phocomelia, Schinzel Type |
|
Micromelia, Short neck, Micrognathia, Abnormal tibia morphology, Protruding ear, Foot oligodactyl... |
ORPHA:2879 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... |
ORPHA:2756 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Hypertelorism, Kyphosis, Macrogl... |
ORPHA:61 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi... |
OMIM:613390 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Hypertelorism, Metaphyseal widening, Abnormal thorax morphol... |
ORPHA:73230 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Pes cavus, Limb muscle weakness, Sensorineural hearing impairment |
OMIM:266500 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryp... |
ORPHA:1772 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... |
OMIM:305620 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Vertebral segmentation defect, Biparietal narr... |
ORPHA:2612 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Hypertelorism, Cryptorchidism, Cupped ear, Flat ac... |
OMIM:617159 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Hypertelorism, Osteolysis involving bones of the upper limbs, Short thorax,... |
ORPHA:88630 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Short... |
ORPHA:1264 |
Craniofrontonasal Syndrome |
|
Ridged nail, Brachycephaly, Sprengel anomaly, Fragile nails, Clinodactyly of the 5th finger, Spli... |
OMIM:304110 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Long nose, Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phal... |
ORPHA:221016 |
Anonychia-Ectrodactyly |
|
Anonychia, Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypertelorism, Abnormal rib morphology, Joi... |
ORPHA:2475 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly o... |
ORPHA:83 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Bilateral single transverse pal... |
ORPHA:353298 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches... |
OMIM:300337 |
Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t... |
ORPHA:2876 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of fing... |
ORPHA:221008 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Three M Syndrome 1 |
|
Pes planus, Scapular winging, Joint hypermobility, Hyperlordosis, Short neck, Increased vertebral... |
OMIM:273750 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Barrel-shaped chest, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge... |
OMIM:618821 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor... |
ORPHA:2583 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Peroneal muscle weakness, Facial palsy, To... |
OMIM:181405 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinodactyly of the 5th finger, S... |
OMIM:620393 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... |
OMIM:613451 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Postnatal growth retardation, Brachycephaly, Pectus carinatum, Short ... |
OMIM:615419 |
Rafiq Syndrome |
|
Wide nose, Flat occiput, Highly arched eyebrow, Prominent nose, Sparse eyebrow, Long eyebrows, Bu... |
OMIM:614202 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Small earlobe, Low-set, posteriorly rotated ears, ... |
ORPHA:2886 |
Hall-Riggs Syndrome |
|
Slow-growing hair, Thick hair, Hypertelorism, Joint stiffness, Wide nasal bridge, Platyspondyly, ... |
ORPHA:2107 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Do... |
ORPHA:1516 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Brachycephaly, Abnormal metacarpal morphology, Co... |
ORPHA:93262 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Hypertelorism, Kyphosis, Cry... |
OMIM:619797 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Micromelia, Micrognathia, Short... |
ORPHA:1308 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Hypertelorism, Joint stiffness, Cryptorchidism, Wide nasal bridge, Ulnar... |
ORPHA:2053 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Woods Syndrome |
|
Supernumerary nipple, 3-4 finger cutaneous syndactyly, Broad nail, Wide nasal bridge, Hypoplastic... |
OMIM:615236 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Micrognathia, Hypertelorism, Joi... |
ORPHA:1899 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Long fingers, Bulbous nose, Wide nasal bridge, B... |
OMIM:613174 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Wide nas... |
OMIM:618569 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Trigonocephaly, Wide nasal bridge, Lambdoidal craniosynostosis, Clinod... |
OMIM:314320 |
Megalencephaly |
|
Frontal bossing, Wide nasal bridge, Genu valgum, Prominent occiput, Dolichocephaly |
ORPHA:2477 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Hypertelorism, Abnormal hand bo... |
OMIM:300244 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Anteverted nares, Rocker bottom foot, Proximal placem... |
OMIM:619762 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Micrognath... |
OMIM:618142 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, 2-3 toe syndactyly, 3-4 finger syn... |
OMIM:600906 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Bell-shaped thorax, Decrease... |
OMIM:614592 |
Desanto-Shinawi Syndrome |
|
Depressed nasal bridge, Bulbous nose, Synophrys, Hirsutism, Brachycephaly, Midface retrusion, Thi... |
OMIM:616708 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
High anterior hairline, Anteverted nares, Brachycephaly |
OMIM:618859 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... |
ORPHA:2994 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hypertelorism, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal intervertebral disk morphology, Ab... |
ORPHA:2701 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pectus excavatum, Brachycephaly |
ORPHA:314575 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia |
OMIM:100700 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Facial hypotonia, Hearing impairment, Tapered finger, Micrognathia, ... |
OMIM:618659 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped nasal alae, Abnormal hai... |
ORPHA:894 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Low anterior hairline, Brachycephaly, Plagioce... |
OMIM:616602 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee fl... |
OMIM:601559 |
Macrocephaly/Autism Syndrome |
|
Frontal bossing, Postnatal macrocephaly, Biparietal narrowing, Midface retrusion |
OMIM:605309 |
Larsen-Like Syndrome |
|
Joint laxity, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Conductive hearing impairmen... |
OMIM:608545 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Hearing impairment, Abnormal thorax morphology, Rhizomelic arm s... |
ORPHA:508542 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Abnormal foot morpholo... |
ORPHA:64754 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Arachnodactyly, Brachycephaly, Bilateral talipes equinovarus, Talipes equinovaru... |
OMIM:615539 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Hypotelorism, Genu valgum, Microtia, Frontal upsweep of hair, Joint ... |
OMIM:617798 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hypo... |
ORPHA:3068 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Sensorineural hearing impairment, Flexion co... |
ORPHA:17 |
Nance-Horan Syndrome |
|
Short metacarpal, Protruding ear |
ORPHA:627 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m... |
ORPHA:1807 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Hypertelorism, Sensorineural hearing impairment, Absent toenail, Broa... |
OMIM:301026 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Hypertelorism, Kyphosis, Synophrys, Small hand, Short foo... |
ORPHA:238750 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Bulbous nose, Clinodactyly, Low anterior hairline, Wide nasal... |
ORPHA:369891 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... |
ORPHA:3130 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Pectus excavatum, ... |
ORPHA:776 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic ... |
OMIM:144750 |
Humeroradial Synostosis |
|
Brachycephaly, Humeroradial synostosis, Wide nasal bridge |
OMIM:236400 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... |
ORPHA:2840 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... |
ORPHA:3219 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Alopecia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, B... |
ORPHA:228390 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Long nose, Abn... |
ORPHA:2769 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Hy... |
ORPHA:313781 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micro... |
ORPHA:245 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Brachycephaly,... |
OMIM:618430 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
48,Xyyy Syndrome |
|
Pes planus, Short neck, Hypertelorism, Abnormal foot morphology, Azoospermia, Radioulnar synostos... |
ORPHA:99329 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Brittle hair, Micrognathia, Flexion contracture, Proptosis, P... |
OMIM:608612 |
Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Hypertelorism, Joint stiffness, Wide nasal bridge, Pectu... |
ORPHA:93 |
Mucolipidosis Type Iv |
|
Biparietal narrowing, Microcephaly |
ORPHA:578 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Osteopenia, Hypoplastic ischia, Bowing of the legs, Microgna... |
ORPHA:313855 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Sparse eyelashes, Sparse facial hair, Flaring of lower rib cage, Sparse ey... |
OMIM:250250 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Wide nasal bridge |
OMIM:614870 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Wide anterior ... |
OMIM:300963 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertelorism, Long nose, Abnormal rib morphology, Hemivertebrae, Deeply ... |
OMIM:118450 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, S... |
OMIM:231050 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Abnormal eyelash morphology, Abnormality of t... |
ORPHA:1794 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Frontal bossing, Anteverted nares, Prominent nasal bridge, Tapered finger, Promi... |
OMIM:616801 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm... |
ORPHA:63442 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Hypoplastic vertebral bodies, Deeply set eye, Sparse hair, Long toe, Hypog... |
ORPHA:3455 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis... |
ORPHA:973 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Sacral dimple, Brachydactyly, Short neck, Hypertelorism, Short metatarsal, Wide... |
OMIM:617157 |
3Q13 Microdeletion Syndrome |
|
Narrow chest, Anteverted nares, Wide nasal bridge |
ORPHA:1621 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Hypertelorism, Cryptorc... |
ORPHA:2645 |
Kbg Syndrome |
|
Vertebral fusion, Single transverse palmar crease, Abnormal hair pattern, Short neck, Hypertelori... |
ORPHA:2332 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Clinodactyly of the 5th finger, Joint laxi... |
OMIM:619293 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel... |
OMIM:248700 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... |
ORPHA:93316 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Pectus excavatum, Depressed nasal ridge, Wide nasal brid... |
ORPHA:77300 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... |
OMIM:610797 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Midface retrusion, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, ... |
OMIM:618529 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly... |
OMIM:146510 |
Marinesco-Sjögren Syndrome |
|
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... |
ORPHA:559 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Po... |
ORPHA:474 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Widow's peak, Postaxial hand polydactyly, Hypoplastic frontal s... |
OMIM:136760 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... |
OMIM:611209 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Prominent nasal bridge, Short thumb, Synophrys, Wide nasal bridge, Short nose, Mid... |
ORPHA:401935 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge |
OMIM:613456 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Pectus carinatum, Knee dis... |
OMIM:245600 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
Man1B1-Cdg |
|
Frontal bossing, Wide nose, Flat occiput, Long eyebrows, Prominent nose, Sparse eyebrow, Abnormal... |
ORPHA:397941 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip disl... |
OMIM:616507 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Lower limb muscle weakness, Kyphoscoliosis, Hypertelorism, Flexion c... |
OMIM:275900 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, C... |
OMIM:620083 |
Cdags Syndrome |
|
Sparse scalp hair, Frontal bossing, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, ... |
OMIM:603116 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Brachycephaly, Clinodactyly of t... |
OMIM:201000 |
Filippi Syndrome |
|
Enlarged epiphyses, Wide nose, Finger syndactyly, Frontal bossing, Prominent nasal bridge, Supern... |
ORPHA:3255 |
Temple-Baraitser Syndrome |
|
Wide nose, Short distal phalanx of finger, Depressed nasal bridge, Anteverted nares, Hypoplastic ... |
ORPHA:420561 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fonta... |
ORPHA:36 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg... |
ORPHA:2884 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Long n... |
ORPHA:2636 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Tapered finger, Short neck, Pectus excavatum, Hy... |
ORPHA:284180 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Hypertelorism, Pectus excavatum, Overfolded helix, Large fleshy ears,... |
OMIM:619092 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Bowing of the legs, Micrognathia... |
OMIM:613849 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Overlapping toe, Prominent nasal bridge, Highly arched eyebrow, Tapered finger, Dow... |
OMIM:617452 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Talipes equi... |
OMIM:616789 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Synophrys, Brachycephaly, Short nose, Midface retrusion |
ORPHA:1913 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Conduc... |
OMIM:609053 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Turricephaly, Craniosynostosis, Brachycephaly, Triphalange... |
OMIM:604757 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:609528 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... |
OMIM:154400 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Underdeveloped nasal alae, Postnatal growth retardation, Prominent nose, ... |
OMIM:611091 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Single transverse palmar crease, Highly arched eyebrow, Hypertelori... |
OMIM:614701 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Broad proximal phalanges of the hand, Choanal atresia, Abnormal hair morphology,... |
OMIM:607597 |
2Q23.1 Microdeletion Syndrome |
|
Sandal gap, Highly arched eyebrow, Synophrys, Brachycephaly, Hip dysplasia, Short palm, Clinodact... |
ORPHA:228402 |
Three M Syndrome 3 |
|
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Protruding ear, Slender long... |
OMIM:614205 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, M... |
ORPHA:2872 |
Monosomy 18P |
|
Alopecia, Micrognathia, Pectus excavatum, Brachycephaly, Wide nasal bridge, Low posterior hairlin... |
ORPHA:1598 |
Gorlin Syndrome |
|
Frontal bossing, Arachnodactyly, Wide nasal bridge, Brachycephaly, Melanocytic nevus, Abnormality... |
ORPHA:377 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Abnormal form of the vertebral bodies, Hypotelorism, Triphalangeal thumb, ... |
ORPHA:794 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Al Kaissi Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Synophrys, Small hand, Wid... |
OMIM:617694 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... |
OMIM:224410 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p... |
OMIM:617425 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Brachycephaly, Hypopigmented skin patches, Melano... |
ORPHA:207 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Reduced bone mineral density, Slender long bo... |
ORPHA:1185 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Deeply set eye, Conductive hearing impairment... |
OMIM:136140 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Short nail, Craniosynostosis, Hypertelorism, Cryptorchidism, Ac... |
ORPHA:503 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ... |
ORPHA:1974 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi... |
OMIM:132450 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, ... |
ORPHA:2163 |
Mosaic Trisomy 8 |
|
Short neck, Micrognathia, Protruding ear, Deeply set eye, Vertebral segmentation defect, Narrow c... |
ORPHA:96061 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hearing impairment, Micrognath... |
ORPHA:1580 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Protruding e... |
OMIM:150230 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Hypertelorism, Reduced bone mineral density, Increase... |
ORPHA:561 |
Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge |
OMIM:209970 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hypoplastic t... |
ORPHA:459061 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypertelorism, Long fingers, Flexion contracture, Low an... |
OMIM:218000 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Low anterior hairline, Wide nasal bridge,... |
OMIM:617392 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Hypertelorism, Absen... |
OMIM:275210 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Biparietal narrowing |
ORPHA:935 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
Menkes Disease |
|
Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Sparse hair, Hypo... |
OMIM:309400 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Frontal bossing, Flat occiput, Micrognathia, Facial hyperostosis, Wide nasal bridge, High iliac w... |
ORPHA:2780 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Broad nasal tip, Synophrys, 2-3 toe syndactyly, Brachycephaly, Talipes equinovar... |
ORPHA:3306 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Mixed hearing impairment, Long eyebrows, Hypertelorism, Pectus excavatum, Widow... |
OMIM:201180 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Brachycephaly, Low posterior hair... |
OMIM:220210 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Frontal bossing, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, Un... |
OMIM:257850 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Turricephaly, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Brachycephaly... |
OMIM:601853 |
Cantu Syndrome |
|
Depressed nasal bridge, Anteverted nares, Curly eyelashes, Broad hallux, Short hallux, Coxa valga... |
OMIM:239850 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Chopra-Amiel-Gordon Syndrome |
|
Postnatal growth retardation, Flared nostrils, Brachycephaly, High anterior hairline, Thick nasal... |
OMIM:619504 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Neonatal epiphyseal stippling, Flexion contracture, Coarse hair, Abno... |
ORPHA:35173 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Turricephaly, Anteverted nares, Micrognathia, Bulbous nose, Synophrys, Wide nasal bridge, Low pos... |
OMIM:619320 |
Noonan Syndrome 13 |
|
Short neck, Micrognathia, Enlarged thorax, Generalized hirsutism, Joint laxity, Highly arched eye... |
OMIM:619087 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Promine... |
ORPHA:1797 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Microcephaly, 2-3 toe syndactyly, Abnormality of the vertebral column, Short 5th fi... |
OMIM:239800 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Short palm, Clinodactyly of t... |
OMIM:156200 |
Pycnodysostosis |
|
Frontal bossing, Brachydactyly, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Abnormal hair pattern, Synophrys, Rib fusion, Brachycephaly, Low posterior hairline, S... |
ORPHA:1394 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Mixed hearing impairment, Short femur, Talipes, Micrognathia, Short neck, Conductive ... |
OMIM:300990 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Sparse eyelashes, Congenital diaphragmatic hernia, Hypertelorism, Sparse eyebrow,... |
ORPHA:370079 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Arachnodactyly, Prominent nas... |
ORPHA:505237 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal chondrodysp... |
OMIM:156400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Postaxial polydactyly, Abnormal ... |
ORPHA:404440 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Clino... |
OMIM:610759 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Depressed nasal bridge, Wide nasal bridge |
ORPHA:1522 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Prominent occiput, Abnormal ... |
ORPHA:89844 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Brachycephaly, Long thorax, Absent nas... |
OMIM:617925 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Hypertelorism, Wide anterior fontanel, Proptosis, Clinodactyly of the 5th finger, Sho... |
OMIM:619736 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic ... |
OMIM:309620 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Brushfield spots, Depressed nasal ridge... |
ORPHA:1791 |
3Mc Syndrome |
|
Abnormal pinna morphology, Diastasis recti, Hearing impairment, Hyperlordosis, Hypertelorism, Hig... |
ORPHA:293843 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tapered finger, Prominent ... |
ORPHA:435638 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Pectus excavatum, Brachycephaly, Plagiocephaly, Dolichocephaly |
ORPHA:272 |
Tetrasomy 5P |
|
Overlapping toe, Posteriorly rotated ears, Short hallux, Short neck, Micrognathia, Long fingers, ... |
ORPHA:3309 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Diastasis recti, Hypertelorism, Short proximal phalanx of finger, Wide an... |
OMIM:616638 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Brachycephaly, Brachydactyly |
ORPHA:2377 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
48,Xxyy Syndrome |
|
Pes planus, Hypergonadotropic hypogonadism, Talipes, Hypertelorism, Elbow dislocation, Cryptorchi... |
ORPHA:10 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micromelia, Micrognathi... |
OMIM:122470 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Anteverted nares, Sparse eyelashes, Down-sloping shoulders, Tapered finger,... |
OMIM:611174 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Micromelia, Abnormal nasal morphology, Pectus exca... |
ORPHA:1798 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Camptodactyly, ... |
OMIM:613604 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... |
ORPHA:1782 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sacral dimple, Sandal gap, Hearing impairment, Hypertelorism, Highly arched... |
ORPHA:261279 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasa... |
OMIM:220220 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Micrognathia, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 ... |
OMIM:618156 |
Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin... |
ORPHA:261318 |
Acrogeria |
|
Micrognathia, Small hand, Fine hair, Short foot, Joint hyperflexibility, Scoliosis, Irregular hyp... |
ORPHA:2500 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Long nose, Congenital stapes ankylosis, Proximal/... |
OMIM:184460 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Short umbilical cord, Thick eyebrow |
OMIM:618367 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Micrognathia, Synophrys, Flexion contracture, Deeply set eye, Gen... |
OMIM:620369 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Hypertelorism, Clinodactyly of the 5th finger... |
OMIM:244600 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Prominent nasal bridge, Toe syndac... |
ORPHA:978 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Hypertelorism, Cryptorchid... |
OMIM:619185 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia, Abnormal nasal morpho... |
ORPHA:1466 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... |
OMIM:224690 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Scapular winging, Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia... |
OMIM:617061 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Abnormality of skin pigmentatio... |
ORPHA:2092 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased vertebral height, ... |
OMIM:616817 |
Radio-Renal Syndrome |
|
Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormal... |
ORPHA:3015 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Congenital diaphragmatic herni... |
ORPHA:199 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Tibial bowing, Pe... |
ORPHA:175 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Micrognathia, Synophrys, Ragged-red muscle fibers, Deeply set eye, Generalize... |
OMIM:620351 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Lumbosacral men... |
OMIM:608022 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Turricephaly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hi... |
OMIM:613776 |
3Mc Syndrome 1 |
|
Sacral dimple, Single interphalangeal crease of fifth finger, Diastasis recti, Hypertelorism, Hea... |
OMIM:257920 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Calcaneovalgus de... |
OMIM:601680 |
6Q25 Microdeletion Syndrome |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Plagiocephaly, Clin... |
ORPHA:251056 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Wide nasal ... |
ORPHA:562528 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Hypertelorism, Pectus exc... |
OMIM:618316 |
Trisomy 9P |
|
Sacral dimple, Hypoplastic fingernail, Bilateral single transverse palmar creases, Short neck, Hy... |
ORPHA:236 |
Gapo Syndrome |
|
Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, ... |
ORPHA:2067 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Proximal placement of thumb, Dolichocephaly |
OMIM:615433 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Hypertelorism, 2-3 finger syndacty... |
OMIM:269500 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Frontal bossing, Alopecia, Brittle hair, Anteverted nares, Wide nasal bridge, Hyperpigmentation o... |
ORPHA:50812 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Pontocerebellar Hypoplasia Type 10 |
|
Long eyelashes, Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae |
ORPHA:411493 |
Gorlin-Chaudhry-Moss Syndrome |
|
Low anterior hairline, Brachycephaly, Coronal craniosynostosis, Coarse hair, Abnormal metacarpal ... |
ORPHA:2095 |
Marshall Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Sparse... |
ORPHA:560 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... |
ORPHA:881 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, Absent fingernail, Hyperte... |
ORPHA:3473 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Pectus carinatum, Wrist flexion c... |
OMIM:121050 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder... |
OMIM:212112 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Synophrys, Low anterior hairline, Brachyce... |
OMIM:213980 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Low anterior hairline, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occ... |
OMIM:618736 |
Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap, Cranio... |
OMIM:609625 |
48,Xxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocation, Hypertelorism, Cry... |
ORPHA:96263 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear... |
ORPHA:2462 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Hypertelorism, Short toe, Flexion co... |
ORPHA:98791 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Facial hypertrichosis, Hypert... |
OMIM:600118 |
Tonne-Kalscheuer Syndrome |
|
Prominent nasal bridge, Concave nail, Prominent nose, Micrognathia, Blue irides, Wide nasal bridg... |
OMIM:300978 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Pectus e... |
ORPHA:96169 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly |
OMIM:300699 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Abnormal hair pattern, Sp... |
ORPHA:178303 |
Smith-Magenis Syndrome |
|
Synophrys, Brachycephaly, Wide nasal bridge, Short palm, Midface retrusion, Brachydactyly |
OMIM:182290 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly |
ORPHA:2528 |
Nail-Patella Syndrome |
|
Back pain, Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor mus... |
OMIM:161200 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Prominent nasal bridge, Proximal placement of thumb, Coxa valga, Postnatal growth ... |
OMIM:212066 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Facial hypotonia, Postaxial polydactyly, Hypertelorism, Pectus excavatum, Abnormal ... |
OMIM:616362 |
49,Xxxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocation, Hypertelorism, Shy... |
ORPHA:96264 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the... |
OMIM:214800 |
Kahrizi Syndrome |
|
Bulbous nose, Thoracic kyphosis, Wide nasal bridge |
OMIM:612713 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Highly arched eyebrow, Bulbous nose, Synophrys, Wide nasal bridge, Thick eyebrow |
OMIM:615979 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Lateral humeral condyle... |
OMIM:164900 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Alopecia, Osteomalacia, Recurrent fractures, Abnormal thora... |
ORPHA:93160 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis... |
ORPHA:2044 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Absent eyebrow, Thin fingernail, Tarsal synostosis, Aplastic clavic... |
ORPHA:85199 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Osteopenia, Down-sloping shoulders, Coxa valga, Microgna... |
OMIM:248370 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Proximal placement of thumb, Short neck, Micrognathia, Wid... |
OMIM:217980 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Pectus excavatum, Micrognathia, Short neck, Hypertelorism, Wide nasal... |
ORPHA:1438 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed nasal tip, Long eyelashes, Br... |
ORPHA:2863 |
Mulibrey Nanism |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Hypertelorism, Synophrys, Small h... |
OMIM:618443 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Mic... |
OMIM:619951 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Hypertelorism, Wide nasal bridge, Sy... |
ORPHA:710 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, ... |
ORPHA:2710 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Low anterior hairline, Bra... |
OMIM:614225 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Abnorm... |
ORPHA:90354 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Postnatal growth retardation, Brachycephaly, Fi... |
OMIM:614800 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Sho... |
OMIM:614376 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:254346 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenail... |
ORPHA:324313 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Short palm, Hypopigmentation of the skin, Iris hypopigmentatio... |
OMIM:176270 |
Sialuria |
|
Hypertelorism, Synophrys, Hirsutism, 2-3 toe syndactyly, Generalized hirsutism, Low posterior hai... |
OMIM:269921 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Short neck, Micrognathia, Low anterior hairline, Coxa vara, ... |
ORPHA:800 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Micrognathia, Hy... |
ORPHA:264200 |
3Mc Syndrome 2 |
|
Torticollis, Diastasis recti, Limited elbow movement, Partial abdominal muscle agenesis, Hypoplas... |
OMIM:265050 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Irregular menstruation, Tibia... |
OMIM:616482 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Wide nasal bridge, Pectus c... |
OMIM:619383 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Depressed nasal bridge, Low anterior hairline, Cranial asymmetry... |
OMIM:609128 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia |
OMIM:620306 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Micrognathia, Metatarsus adductus, Shor... |
ORPHA:436003 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ... |
ORPHA:2988 |
Smith-Magenis Syndrome |
|
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Synophry... |
ORPHA:819 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Short nose |
OMIM:608776 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Hypoplastic toenails, Synophrys, Conductive hearing impairment, Abnormal toenail mo... |
ORPHA:444077 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Hip dysplasia, Camptodactyly, Promine... |
OMIM:611961 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Anteverted nares, Micrognathia, Metatarsus adductus, Calcaneov... |
OMIM:616266 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Hip dislocatio... |
OMIM:219150 |
Trigonocephaly 1 |
|
Craniosynostosis, Synophrys, Wide nasal bridge, Trigonocephaly, Short nose |
OMIM:190440 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Flexion contracture, ... |
OMIM:312150 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb |
ORPHA:60015 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Hyperconvex finger... |
ORPHA:2658 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Wide nose, Congenital hip dislocation, Prominent nose, Synophrys, Broad nail, Tali... |
OMIM:300280 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Coarse hair, Narrow greater sc... |
OMIM:253220 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:300958 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ulnar deviation of the hand, Tapered finger, Hypertelorism, Cryptorchidism, Hip dislo... |
OMIM:619435 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Low anterior hairline, Wide nasal bridge, Thin eyebrow |
OMIM:619690 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... |
ORPHA:2786 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, 2-3 toe syndactyly,... |
OMIM:107480 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Hypotel... |
OMIM:601812 |
Familial Benign Copper Deficiency |
|
Early balding, Diaphyseal thickening, Wide nasal bridge |
ORPHA:1551 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndacty... |
OMIM:236500 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Hypertel... |
OMIM:612940 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Synophrys, Deeply set eye, Abnormal vertebral morphology |
ORPHA:261272 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thick eyebrow, Short neck, Micrognathia, Hypertelorism, Synophrys, Upper limb under... |
ORPHA:529962 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... |
ORPHA:1225 |
Vitamin D-Dependent Rickets, Type 2A |
|
Frontal bossing, Bulging epiphyses, Flat occiput, Bowing of the legs, Subperiosteal bone resorpti... |
OMIM:277440 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Low anterior hairline, Brachycephaly |
ORPHA:320385 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Frontal bossing, Depressed nasal bridge, Rocker bottom foot, Pectus excavatum, Brachyc... |
OMIM:612582 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Hyperte... |
OMIM:231070 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails... |
ORPHA:235 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Arachnodactyly, Wide nasal bridge, Micrognathia |
ORPHA:93946 |
Momo Syndrome |
|
Frontal bossing, Hyperconvex nail, Brachycephaly, Wide nasal bridge, Large hands, Short sternum |
OMIM:157980 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... |
ORPHA:2774 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia, Short clavicles |
OMIM:168550 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... |
OMIM:605432 |
20Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Anteverted nares, Trigonocephaly, Pectus excavatum, Wide nasal bridge, Br... |
ORPHA:363659 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Brachycephaly, Sparse hair, Parietal bossing, Sparse eyebrow,... |
OMIM:234100 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Widow's peak, Wide nasal bridge, Dolichocephaly, Clinodac... |
OMIM:167730 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Wide nasal bridge, Pectus carinatum, Broad thumb |
ORPHA:261295 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, 2-3 toe cutaneous syndactyly, W... |
OMIM:300260 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Wide nasal bridge, Abnormality of the frontal hair... |
ORPHA:557003 |
Macrocephaly-Developmental Delay Syndrome |
|
Microretrognathia, Frontal bossing, Craniosynostosis, Scaphocephaly, Wide nasal bridge, Clinodact... |
ORPHA:397612 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Wide nasal ... |
ORPHA:1252 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Brachycephaly, Pectus carinatum, Cutaneous finger syndactyly, Ch... |
OMIM:101200 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycephaly, Abnormal nostril mor... |
ORPHA:66625 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Depressed nasal bridge, Brachycephaly, Micrognathia |
OMIM:620240 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Low anterior hairline, Brachycephaly |
OMIM:615031 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Hypertelorism, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Trisomy 18P |
|
Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Abnormal finger morphology, Wide ... |
ORPHA:1715 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Short clavicles, Proptosis |
OMIM:619793 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Micrognathia, Short neck, Hypertelorism, Synophrys, Wide nasal bridge, Fine hair,... |
OMIM:620250 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Arachnodactyly, Postnatal growth retardation, Metatarsus adductus, Pectus... |
OMIM:612513 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Protruding ear, Low-set ears... |
ORPHA:85284 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Cryptorchidism, Hypopl... |
ORPHA:3412 |
Ververi-Brady Syndrome |
|
Hypertelorism, Cupped ear, Low-set ears, Scoliosis, Clinodactyly of the 5th finger, Macrotia, Met... |
OMIM:617982 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... |
ORPHA:2050 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Conductive hearing impairment, Calvarial osteosclerosis, Hypertelorism, Cryptorchid... |
OMIM:616331 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Talipes equinovarus, Bulbous nose, Acetabular dysplasia, Wide nasal bridge |
OMIM:614066 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Pectus excavatum, Long fingers, Clinodactyl... |
ORPHA:357001 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Slow-growing hair, Rocker bottom foot, Hig... |
OMIM:272950 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Bulbous nose, Synophrys, Low anterior hairline, Flared metaphy... |
OMIM:610442 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Micrognathia, Wide nasal bridge, Broad nasal tip |
OMIM:615524 |
Raine Syndrome |
|
Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Microme... |
OMIM:259775 |
Kbg Syndrome |
|
Single transverse palmar crease, Short neck, Synophrys, Low anterior hairline, Protruding ear, Th... |
OMIM:148050 |
Prader-Willi Syndrome Due To Translocation |
|
Short neck, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:177907 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Bulbous nose, Brachycephaly, Plagiocephaly, Asymmetry of the thorax, Narro... |
OMIM:618644 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Flexion contracture, ... |
OMIM:253290 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Brachycephaly, Supernumerary... |
ORPHA:1173 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... |
ORPHA:324964 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered finger, B... |
OMIM:300968 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Hypertelorism, Anencepha... |
ORPHA:1590 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,... |
OMIM:601353 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Single tr... |
OMIM:613385 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Short neck, Micrognathia, Sparse ha... |
OMIM:305450 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Micrognathia, Kyphosis, Hypertelorism, Sensorineural hearing impairme... |
ORPHA:2479 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Curly eyelashes, Short hallux, Coxa va... |
ORPHA:1517 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Congenital Disorder Of Glycosylation, Type Id |
|
Depressed nasal bridge, Long fingers, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Nail ... |
OMIM:601110 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Postnatal growth retardation, Low anterior hairline, Brachycephaly, Clinodactyly of... |
OMIM:614222 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger sy... |
OMIM:603467 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Supernumerary nipple, Micrognathia, Pectus excavat... |
ORPHA:247262 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... |
OMIM:301041 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Hearing impairment, Short neck, Micrognathia, Kyphosis, Hypertelorism,... |
OMIM:616894 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Single transverse palmar crease, ... |
OMIM:309583 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Hypertelorism, Abnormality of the di... |
OMIM:601163 |
Cerebellofaciodental Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Sparse eyebrow, Cryptorc... |
OMIM:616202 |
Acromelic Frontonasal Dysplasia |
|
Broad nasal tip, Bifid nasal tip, Brachycephaly, Patellar hypoplasia, Bifid nose, Talipes equinov... |
ORPHA:1827 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Wide nasal bridge, Camptod... |
OMIM:618804 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... |
ORPHA:2062 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sagittal cranio... |
OMIM:145420 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Posteriorly rotated ears, Short neck, Micrognathia, Hypertel... |
OMIM:146390 |
Histidinuria Due To A Renal Tubular Defect |
|
Hypoplastic toenails, Short middle phalanx of finger, Wide nasal bridge, Rounded middle phalanx o... |
OMIM:235830 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Hypertelorism, Abnormal hand morphology, Small hand, Premature gr... |
OMIM:300845 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Micrognathia, Synophrys, Wide... |
ORPHA:3253 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Congenital diaphragmatic hernia, Hypertelorism, Pectus excavatum, Sparse eyebrow, Sup... |
OMIM:612530 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Synophrys, Low anterior hairline, Protrudi... |
OMIM:613458 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Hypertelorism, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxia... |
OMIM:258850 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Short thumb, Sensorineural hearing impairment, 2-3 toe syndactyly, Broad p... |
ORPHA:2712 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Talipes equinovarus |
OMIM:619972 |
Radio-Tartaglia Syndrome |
|
Frontal bossing, Thick eyebrow, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge,... |
OMIM:619312 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Narrow nail, Depressed nasal bridge, Anteverted nares, Choanal atresia, Highly arched e... |
OMIM:158170 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Pectus excavatum, Brachycephaly |
OMIM:618603 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Frontal bossing, Arachnodactyly, Prominent nasal bridge, Anteverted nares, Micro... |
ORPHA:371364 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Short middle phalanx of finger, Wide nasal bridge, Rounded middle phalanx o... |
ORPHA:2158 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Micrognathia, Bulbous nose, Wide nasal bridge, Sparse hair, Hypopigmentation of the skin, Aplasia... |
ORPHA:261304 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Broad nasal tip, Bifid nasal tip, Parietal foramina, Preaxial polydactyly, Wide nasal... |
OMIM:603671 |
Trisomy 12P |
|
Supernumerary nipple, Hypertelorism, Micrognathia, Short neck, Wide nasal bridge, Abnormal antihe... |
ORPHA:1699 |
Orofaciodigital Syndrome Xix |
|
Frontal bossing, Toe syndactyly, Broad hallux, Type A brachydactyly, Underdeveloped nasal alae, B... |
OMIM:620107 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Red hair, Scoliosis, Palmoplantar cutis laxa, Spondylol... |
OMIM:229200 |
Lissencephaly 4 |
|
Wide nasal bridge |
OMIM:614019 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
Noonan Syndrome 6 |
|
Curly hair, Depressed nasal bridge, Long eyebrows, Pectus excavatum, Wide nasal bridge, Low poste... |
OMIM:613224 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... |
ORPHA:1506 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Highly arched eyebrow, M... |
OMIM:619775 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Highly arched eyebrow, Postnatal growth retardation, Duplication of phalanx of ... |
OMIM:243310 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Choanal atresia, Tapered finger, Micrognathia, Short thumb, Wide nasal bridge, B... |
OMIM:619148 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe, Wide nasal bridge |
ORPHA:2229 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Brachycephaly... |
OMIM:606851 |
Alazami Syndrome |
|
Sparse eyebrow, Slender long bone, Deeply set eye, Low-set ears, Scoliosis |
ORPHA:319671 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Pes planus, Joint laxity, Brittle hair, Hypertelorism, Wide anterior fontanel, Poster... |
OMIM:607812 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Low-set, posteriorly rotated ears, Facial hypotonia, Hi... |
ORPHA:261311 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Pontocerebellar Hypoplasia, Type 3 |
|
Depressed nasal bridge, Brachycephaly |
OMIM:608027 |
Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Avascular necrosis of the capital femoral epiphysis, Bulbous nose, Wide nasal ... |
ORPHA:502 |
Noonan Syndrome 14 |
|
Pes planus, Scapular winging, Curly hair, Posteriorly rotated ears, Short neck, Pectus excavatum,... |
OMIM:619745 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Hypertelorism, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... |
OMIM:244460 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Neonatal ... |
OMIM:610015 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... |
OMIM:105650 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... |
ORPHA:398079 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Duplicati... |
OMIM:180750 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypogonadotropic hypogonadism, Hypertelorism, Joint stiffness, Synophrys, Hypopigm... |
ORPHA:1295 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,... |
ORPHA:1647 |
Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Wide nasal bridge, Tapered finger |
OMIM:617931 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Posteriorly rotated ears, Pectus excavatum, Long nose, Slender long bone, Deeply set ... |
OMIM:618590 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... |
ORPHA:93473 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Conductive hearing impai... |
OMIM:102500 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Synophrys, Anosmia, Wide nasal bridge, Cutaneous finger syndactyly, Thick eyebrow |
OMIM:210745 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Cohen-Gibson Syndrome |
|
Osteopenia, Flexion contracture, Long ear, Hypoplastic iliac wing, Joint laxity, Thin nail, Hyper... |
OMIM:617561 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Low anterior hairline, Brachycephaly, Hor... |
OMIM:618797 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Hypert... |
ORPHA:96201 |
Zaki Syndrome |
|
Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Micrognathia, Hypoplastic toenail... |
OMIM:619648 |
Saethre-Chotzen Syndrome |
|
Long nose, Low anterior hairline, Brachycephaly, Partial duplication of the distal phalanx of the... |
OMIM:101400 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Micrognathia, Hypertelori... |
OMIM:300895 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Slender finger, Synophrys, Wide nasal bridge |
OMIM:613192 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic ischia, Micrognat... |
ORPHA:1865 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... |
OMIM:227330 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Alopecia, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Sparse e... |
ORPHA:2108 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Low anterior hairline, Sparse hair, Small earlobe, S... |
OMIM:608156 |
Mohr Syndrome |
|
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:252100 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Hypertelorism, Aplasia/Hypoplasia of the earlobe... |
ORPHA:1104 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Anteverted nares, Small hand, Wide nasal bridge, Talipes equinovarus, Camptodactyly, ... |
OMIM:619980 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Joint contracture of th... |
ORPHA:352490 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Distal Duplication 17Q |
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Hallux valgus, Low-set, posteriorly rotated ears, Joint laxity, Overlapping toe, Arachnodactyly, ... |
ORPHA:3379 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling |
OMIM:614859 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Low-set ears, Limb und... |
OMIM:225410 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... |
OMIM:139210 |
Craniosynostosis And Dental Anomalies |
|
Flat occiput, Clinodactyly, Brachycephaly, Short phalanx of finger, Depressed nasal bridge, Broad... |
OMIM:614188 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Scaphocephaly, Wide nasal bridge, Plagiocephaly, Clinodactyly of the 5th finger |
OMIM:619149 |
Mosaic Trisomy 16 |
|
Syndactyly, Profuse pigmented skin lesions, Single transverse palmar crease, Short thumb, Abnorma... |
ORPHA:1708 |
Fanconi Anemia, Complementation Group P |
|
Micrognathia, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, Vitiligo, Cafe... |
OMIM:613951 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyly, Low-set, ... |
ORPHA:672 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Mandibuloacral Dysplasia |
|
Alopecia, Micrognathia, Abnormality of skin pigmentation, Contractures of the large joints, Osteo... |
ORPHA:2457 |
2P15P16.1 Microdeletion Syndrome |
|
Sandal gap, Prominent nasal bridge, Supernumerary nipple, Tapered finger, Sparse eyebrow, Metatar... |
ORPHA:261349 |
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 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Hypertelorism, Absent radius, Sho... |
OMIM:149730 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Micrognathia, Premature graying of hair, Short palm, Sparse hair, Abs... |
OMIM:268400 |
Noonan Syndrome |
|
Micrognathia, Pectus carinatum, Enlarged thorax, Coarse hair, Thickened helices, Clinodactyly of ... |
ORPHA:648 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Depressed nasal bridge, Tapered finger, Pectus excavatum, Wide nasal bridge, B... |
OMIM:601088 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypertelorism, Short neck, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:1642 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Hypertelori... |
ORPHA:1752 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Kyphosis, Postaxial hand polydactyl... |
ORPHA:2075 |
Perlman Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Dolichocephaly, Short nose |
ORPHA:2849 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Sparse hair, Microretrognathia, Scapular wingi... |
OMIM:278250 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly, Midface retrusion |
OMIM:218350 |
Lig4 Syndrome |
|
Prominent nose, Low anterior hairline, Brachycephaly, Wide nasal bridge, Clinodactyly of the 5th ... |
OMIM:606593 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... |
OMIM:602535 |
Momo Syndrome |
|
Frontal bossing, Hyperconvex nail, Brachycephaly, Femoral bowing, Large hands, Short sternum, Con... |
ORPHA:2563 |
Warburg Micro Syndrome 4 |
|
Anteverted nares, Prominent nasal bridge, Low anterior hairline, Brachycephaly, Severe postnatal ... |
OMIM:615663 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Low hanging columella, Wide nasal bridge, Talipes equinovarus, Wide nasal base, Sparse ... |
OMIM:617788 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,... |
ORPHA:2848 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia,... |
ORPHA:1834 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Highly arched eyebrow, Micrognathia |
ORPHA:261229 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Frontal bossing, Depressed nasal bridge, Clinodactyly, Wide nasal bridge, Pectus carinatum, Talip... |
ORPHA:397709 |
Eiken Syndrome |
|
Broad femoral neck, Hypertelorism, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial... |
ORPHA:476126 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... |
OMIM:618356 |
Williams-Beuren Region Duplication Syndrome |
|
Micrognathia, Broad nasal tip, Brachycephaly, Long eyelashes, Horizontal eyebrow |
OMIM:609757 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hypoplastic toenails, Knee flexion contracture, Pectus carinatum, Clinodactyly of the 5th finger,... |
ORPHA:488642 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Deeply set eye, Short ... |
OMIM:602152 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Depressed nasal bridge, Supernumerary nipple, Sparse eyebrow, Bulbous nose, Syno... |
OMIM:620098 |
3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Hypertelorism, ... |
OMIM:248340 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Hypoplastic fingernail,... |
OMIM:200110 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Vertebral segmentation defect, Dislocated radial head, 2-4 finger syndactyly,... |
OMIM:617063 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Brachycephaly |
ORPHA:70472 |
Orofaciodigital Syndrome Type 3 |
|
Hypertelorism, Pectus excavatum, Abnormality of hair texture, Postaxial hand polydactyly, Postaxi... |
ORPHA:2752 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Split hand, Wide nasal bridge |
OMIM:610127 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Depressed nasal bridge, Brachycephaly, Hypertrichosis |
OMIM:612379 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Micrognathia, Reduced bone mineral density, Proptosis, Short clavicles, Shallow o... |
OMIM:619322 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Sparse eyelashes, Overlapping toe, Underdeveloped nasal alae, Postnatal growth ... |
OMIM:613026 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Anteverted nares, Wide anterior fontanel, Wide nasal bridge,... |
ORPHA:44 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Brachycephaly, Coarse hair, Narrow chest, Bilateral coxa valga, Clinodactyly of the 5t... |
OMIM:618268 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Depressed nasal bridge, Wide nasal bridge, Uncombable hair, Sparse hair, Woolly hai... |
OMIM:614602 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Depressed nasal bridge, Sandal gap, Narrow nasal ridge, Underdeveloped nasal ala... |
OMIM:619127 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fontanel,... |
OMIM:222448 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... |
ORPHA:93357 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Absent thumb, Short neck, Bilateral radial apla... |
OMIM:300514 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebr... |
ORPHA:2990 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Choanal atresia, Missing ribs, Abnormal rib morphology, Wide nasal bridge, Clinod... |
ORPHA:2759 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Anteverted nares, Prominent nasal bridge, Tapered finger, Synophrys, Wide nasal bridge, Hip dyspl... |
OMIM:616977 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Congenital hip dislocation, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Deviation... |
ORPHA:2412 |
Scarf Syndrome |
|
Barrel-shaped chest, Prominent nasal bridge, Low anterior hairline, Wide nasal bridge, Low poster... |
OMIM:312830 |
Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Sandal gap, Highly arched eyebrow, Micrognathia, Pectus excavatum, Synophrys, ... |
OMIM:270450 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Sparse eyelashes, Postnatal... |
OMIM:605627 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Spina bifida occulta, Abnormal digit morphology, Brachycephaly |
OMIM:268850 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Pro... |
ORPHA:2953 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Hypertelorism, Cryptorchidism, Wide nasal bridge, Protruding ear, Genu valgum, Low posterior hair... |
ORPHA:1778 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thick eyebrow, Highly arched eyebrow, Synophrys, Clinodactyly, Wide nasal brid... |
OMIM:618950 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Shallow orbits, Broad ribs... |
ORPHA:798 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, P... |
ORPHA:955 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Brachycephaly |
DECIPHER:45 |
Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Hypert... |
ORPHA:2834 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Anteverted nares, Highly arched eyebrow, Supernumerary nipple, Hypoplastic toena... |
OMIM:616728 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Hearing impa... |
ORPHA:742 |
3C Syndrome |
|
Finger syndactyly, Brachydactyly, Frontal bossing, Depressed nasal bridge, Micrognathia, Postnata... |
ORPHA:7 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... |
ORPHA:87 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Micrognathia, Hypoplastic ilia, Hypertelorism, Cryptorchidism... |
ORPHA:85201 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Knee flexion contracture, Hypertelorism, Prominent crus of helix, C... |
OMIM:619194 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho... |
OMIM:615485 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ... |
ORPHA:3107 |
Fucosidosis |
|
Cervical platyspondyly, Barrel-shaped chest, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo... |
OMIM:230000 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, ... |
ORPHA:398069 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... |
ORPHA:783 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Clinod... |
OMIM:249620 |
Down Syndrome |
|
Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th... |
ORPHA:870 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Frontal bossing, Toe syndactyly, Depressed nasal bridge, Hypoplastic thumbna... |
ORPHA:1692 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Joint stiffness, E... |
ORPHA:584 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, Hypertelorism, Pectus excavatum, Kyphosis, Th... |
OMIM:616294 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Hypertelorism, Kyphosis, Cryptorchidism, Hypotelorism, Protruding ear, Aplasia/Hypo... |
OMIM:619123 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Tapered finger, ... |
ORPHA:1272 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Distal Deletion 6P |
|
Micrognathia, Hypertelorism, Short foot, Vertebral segmentation defect, Abnormal epiphysis morpho... |
ORPHA:96125 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph... |
ORPHA:263508 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Talipes, Kyphoscoliosis, Micrognathia, Severe generalized osteoporosis, Hypoplas... |
OMIM:210730 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Craniosynostosis, Sensorineural hea... |
ORPHA:261197 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... |
ORPHA:98754 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, ... |
ORPHA:391474 |
Carpenter Syndrome 2 |
|
Low anterior hairline, Preaxial polydactyly, Coxa vara, Brachycephaly, Pectus carinatum, Cutaneou... |
OMIM:614976 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Pectus excavatum, Bulbous nose, Wide nasal b... |
OMIM:618571 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Short neck, Micrognathia, Long fingers, Pectus excava... |
ORPHA:96092 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly |
OMIM:309541 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Hyperteloris... |
ORPHA:93259 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Prominent nose, Low anterior hairline, Hirsutism, Brachycephaly, Woolly ha... |
OMIM:619244 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hyperconvex nail, Highly arched eyebrow, Broad nasal tip, Tapered finger, Short toe, Wide nasal b... |
OMIM:239300 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Low posterior hairline |
OMIM:611936 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:615071 |
Koolen-De Vries Syndrome |
|
Anteverted ears, Positional foot deformity, Hypotelorism, Prominent fingertip pads, Iris hypopigm... |
OMIM:610443 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o... |
OMIM:619269 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Nail dysplasia, Hypertelorism |
ORPHA:1401 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Mi... |
OMIM:612651 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Death in infancy, Single transverse palmar crease, Short n... |
OMIM:619297 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... |
ORPHA:98793 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Synophrys, Hirsutism, Broad nail, Wide nasal bridge, Thick eyebrow, Short distal phalanx of finger |
ORPHA:1970 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Brachycephaly, Supernumerary nipple |
OMIM:616083 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Abnormality of the nose, Ocular albinism, Hypopigmented... |
ORPHA:999 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Wide nasal bridge, Prominent nose |
ORPHA:137831 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Synophrys, Wide nasal bridge, Broad eyebrow |
OMIM:618302 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Conductive hearing impairment, Cl... |
OMIM:300373 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hypertelorism, Pectus excavatum, Hemiverte... |
OMIM:104350 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Brachycephaly, Osteolysi... |
ORPHA:371428 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Sparse eyelashes, Rocker bottom foot, Tapered finger, Sparse eyebrow, Micrognathia, Wide nasal br... |
OMIM:620070 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... |
ORPHA:177904 |
Mulibrey Nanism |
|
Wide nasal bridge |
ORPHA:2576 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Unilateral ... |
OMIM:617247 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... |
ORPHA:177901 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, Cupped ear, Low-set ears, Campt... |
OMIM:614846 |
49,Xxxyy Syndrome |
|
Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Finger clinodactyl... |
ORPHA:261534 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Underdeveloped nasal alae, Synophrys, Blue irid... |
OMIM:193500 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose, Wide nasal bridge, Low p... |
OMIM:617360 |
Geleophysic Dysplasia 2 |
|
Ovoid vertebral bodies, Hypertelorism, Joint stiffness, Limitation of joint mobility, Cone-shaped... |
OMIM:614185 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Hypoplastic toenails, Bulbous nose, Low anterior hairline, Wide nasal bridge, S... |
OMIM:220500 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Short neck,... |
ORPHA:488434 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:615716 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Protruding ear, Deeply set eye, Ulna... |
ORPHA:3132 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Epistaxis, Abnormal hair pattern, Highly arched eyebrow, Bulbous nose, Patellar aplasi... |
ORPHA:495818 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Prominent nasal bridge, Small hand, Brachycephaly, Short foot |
OMIM:618885 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Pect... |
OMIM:263520 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Conductive hearing impairment, S... |
OMIM:235510 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... |
ORPHA:3440 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Thin nail, Highly arched eyebrow, Prox... |
ORPHA:261112 |
Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge, Dolichocephaly |
ORPHA:324581 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Pectus excavatum, Long fingers, Brachycephaly, Hypoplastic ... |
OMIM:156610 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Brachycephaly, Anteverted nares, Prominent nasal bridge |
OMIM:608688 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal si... |
OMIM:301040 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypertelorism, Hand polyda... |
OMIM:258860 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Short neck, Micrognathia, Congenital contracture, Gener... |
OMIM:208150 |
Simosa Craniofacial Syndrome |
|
Highly arched eyebrow, Underdeveloped nasal alae, Long nose, Sparse eyebrow, Abnormal hair morpho... |
OMIM:182150 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Hypertelorism, Increased intervertebral space, Broad isc... |
OMIM:619727 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Plagiocephaly, Slender long bone, Decreased calvarial ... |
OMIM:618265 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, High anterior hairline, Brachycephaly |
OMIM:618862 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hyperpigmentation of the skin, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent e... |
OMIM:106260 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Hearing impairment, Joint stiffness, White hair, Abnormal finger morphol... |
ORPHA:896 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Hypertelorism, Polydacty... |
ORPHA:59315 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Hy... |
OMIM:616038 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Depressed nasal... |
ORPHA:2211 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Pectus excavatum, Brachycep... |
ORPHA:2673 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Sparse eyebrow, Wide nasal bridge,... |
ORPHA:75496 |
Pyruvate Dehydrogenase Deficiency |
|
Frontal bossing, Pectus excavatum, Osteolytic defects of the middle phalanx of the 4th toe, Wide ... |
ORPHA:765 |
Alg9-Cdg |
|
Short neck, Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Shallow orbits, Abnorm... |
ORPHA:79328 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, ... |
OMIM:257300 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicoronal synosto... |
OMIM:616300 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ... |
ORPHA:1790 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hip dislocation, Brachycephaly, Coxa valga |
OMIM:109120 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Cryptorchidism, Small hand, Osteoporosis, Primary amenorrhe... |
ORPHA:739 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum, Microretrognathia, Absent... |
OMIM:613803 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Hypopigmented skin patc... |
ORPHA:2637 |
Chops Syndrome |
|
Curly hair, Thick hair, Hearing impairment, Hypertelorism, Tracheomalacia, Cryptorchidism, Synoph... |
OMIM:616368 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Synophrys, Wide nasal bridge, Prominent nasal bridge |
OMIM:618009 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Synophrys, Brachycephaly, Talipes equinovarus, Midface retrusion, Brachydactyly |
OMIM:610253 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Conductive hearing impairment, Abnormal digit morphology, Syndactyly, Finger syndac... |
ORPHA:2363 |
Bohring-Opitz Syndrome |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Thick hair, Supernumerary nipple, Tapered f... |
OMIM:605039 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly |
ORPHA:93950 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Bilateral talipes equinovarus, Wide nasal bridge |
OMIM:616521 |
Craniolenticulosutural Dysplasia |
|
Pes planus, Brittle hair, Hypertelorism, Posterior wedging of vertebral bodies, High iliac wing, ... |
ORPHA:50814 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Hypotelorism, Protruding ear, Deeply ... |
OMIM:309590 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Vertebral segmentation d... |
ORPHA:373 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Low anterior hairline, Wide nasa... |
ORPHA:1449 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Flared nostrils, Anteverted nares, Wide nasal bridge |
OMIM:312170 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis, Silver-gray hair, Hip dislocation, Multiple lentigines, Vitiligo |
ORPHA:101003 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Arachnodactyly, Prominent nasal bridge, Dolichocephaly, Pectus excavatum, Brach... |
OMIM:615582 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rhizomelia, Tapered finger, Postnatal growth retardation, Pectus ... |
ORPHA:319182 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrocele testis, Radioulnar synostosis, Short middle phalanx o... |
OMIM:616738 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Finger syndactyly, Wide nasal bridge |
ORPHA:66629 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Flat occiput, Arachnodactyly, Micrognathia, Brachycephaly, Thin eyebrow |
ORPHA:2707 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,... |
OMIM:193700 |
Verheij Syndrome |
|
Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, Short 5th finger, Clinodac... |
OMIM:615583 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Micrognathia, Long fingers, Bulb... |
OMIM:619512 |
Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Wide nasal bridge, Anonychia, Generalized hirsutism, Brachydactyly |
ORPHA:1563 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Arachnodactyly, Sandal gap, Long nose, Wide nasal bridge, Hip dysplasia, Talipes equinovarus, Cam... |
OMIM:617146 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb... |
OMIM:194190 |
Deafness-Craniofacial Syndrome |
|
Frontal bossing, Wide nasal bridge, Temporal hypotrichosis, Underdeveloped nasal alae |
ORPHA:3241 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Pectus excavatum, Wide nasal bridge, Brachycephaly, Melanocytic nevus, Pectus c... |
ORPHA:500 |
Adnp Syndrome |
|
Sparse scalp hair, Depressed nasal bridge, Broad hallux, Sandal gap, Abnormal toe morphology, Rec... |
ORPHA:404448 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Hypertelorism, Abnormal thorax mor... |
ORPHA:1236 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Broad skull, Brachycephaly, Broad phalanges of the hand, Broad ribs, Broa... |
OMIM:277600 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Depressed nasal ridge, Hip di... |
ORPHA:3474 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, Wide nasal bridge, 2-3 toe syndactyly, Hypoplastic nasal tip, Clubbing of toes, Clu... |
ORPHA:3304 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Wide nasal bridge |
OMIM:615032 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia, ... |
OMIM:616503 |
Joubert Syndrome 28 |
|
Pigmentary retinopathy, Wide nasal bridge, Highly arched eyebrow |
OMIM:617121 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebro... |
OMIM:244450 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Brachydactyly, Wide nasal bridge, Hypertrichosis |
OMIM:247410 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatars... |
ORPHA:2461 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
Turnpenny-Fry Syndrome |
|
Sparse scalp hair, Frontal bossing, Thoracic kyphoscoliosis, Overlapping toe, Tapered finger, Pec... |
OMIM:618371 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Hypoplastic toenails, Bifid thoraci... |
ORPHA:268249 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Hypertelorism, Cryptorchidism,... |
ORPHA:97360 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Single transverse palmar crease, Tapered finger, Micrognathia, Short neck... |
ORPHA:444072 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Neonatal death |
OMIM:618810 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Short ... |
OMIM:616430 |
Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide anterior fontanel, Wide n... |
OMIM:616920 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Anteverted nares, Frontal balding, Wide nasal bridge, Thick nasal alae |
ORPHA:1942 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nose, Pectus excavatum, Synophrys, Metaphyseal widening, Low anterior hairline, Wide nasal b... |
OMIM:617303 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Pectus excavatum, Widow's peak,... |
ORPHA:1519 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Hype... |
ORPHA:2008 |
Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Prominent nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:300215 |
Fontaine Progeroid Syndrome |
|
Micrognathia, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coa... |
OMIM:612289 |
Short Syndrome |
|
Alopecia, Wide nasal bridge, Short palm, Sparse hair, Midface retrusion, Brachydactyly |
ORPHA:3163 |
White-Sutton Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Micrognathia, Brachycephaly, Hypoplastic cervical verteb... |
OMIM:616364 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Mild postnatal growth retardation, Ulnar deviation of the 3rd finger,... |
ORPHA:456312 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Hypertelorism, Radial club hand, Proptosis, Low-set ears, Cycl... |
ORPHA:2165 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Absent fingernail, ... |
OMIM:609638 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand, Wide nasal bridge |
ORPHA:168486 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Synophrys, Pectus carinatum, Thickened helices, Small earlobe, Long toe, A... |
ORPHA:3063 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Flexion... |
OMIM:227645 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Micrognathia, Hypertelorism... |
OMIM:617062 |
Neuhauser Syndrome |
|
Frontal bossing, Arachnodactyly, Depressed nasal bridge, Micrognathia, Low anterior hairline, Wid... |
OMIM:249310 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Wide nasal bridge, C... |
OMIM:615560 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Mic... |
ORPHA:2554 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Kyphosis, Cryptorchid... |
ORPHA:1724 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Frontal bossing, Turricephaly, Tapered finger, Wide nasal bridge, Plagiocephal... |
OMIM:613603 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Short neck, Micromelia, Congenital diaphragmatic hernia... |
OMIM:616546 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... |
OMIM:619879 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the cervical spine, Abnormal metacarpophalangeal joint morphology, Ankle swelling,... |
ORPHA:85408 |
Doors Syndrome |
|
Low anterior hairline, Abnormal finger morphology, Brachycephaly, Absent fingernail, Triphalangea... |
ORPHA:79500 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Wide nasal bridge, Low posterior hairline, Abnormal sternum morphology, Th... |
OMIM:618440 |
Relapsing Polychondritis |
|
Sensorineural hearing impairment, Biparietal narrowing, Chondritis of pinna |
ORPHA:728 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Wide nasal bridge, Highly arched eyebrow, Micrognathia |
OMIM:618342 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Hy... |
OMIM:157800 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Wide nose, Broad hallux, Sandal gap, Synophrys, Brachycephaly, Hip dysplasia, Cu... |
OMIM:616078 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Talipes equinovarus, Bulbous nose, Wide nasal bridge, Prominent nose |
OMIM:614067 |
Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Synophrys, Wide nasal bridge |
OMIM:618067 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tapered finger, Long fingers, Calcaneovalgus deformity, Brachycephaly, Wide nasal bridge |
ORPHA:521445 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Protruding ear, Deeply set eye, Sim... |
OMIM:619325 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Micrognathia, Adactyly, Split h... |
ORPHA:989 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Dolichocephaly, Neonatal d... |
OMIM:614887 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Broad nasal tip, Low anterior hairline, Brachycephaly, Depressed nasal ti... |
OMIM:618223 |
Short Syndrome |
|
Enlarged epiphyses, Frontal bossing, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, ... |
OMIM:269880 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Anteverted nares, Wide nasal bridge |
ORPHA:791 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Synophrys, Large fleshy ears, Narrow chest, Prominent superior crus of antihelix, Mic... |
ORPHA:280633 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Highly arched eyebrow, Proximal placement of thumb, Sparse eyebrow, Tapered fing... |
OMIM:616737 |
Fetal Akinesia Deformation Sequence 2 |
|
Wide nasal bridge, Micrognathia |
OMIM:618388 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Shal... |
ORPHA:576 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail morphology, Micromelia, M... |
ORPHA:1908 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Scarring alopecia of scalp, Wide nasal bridge, 3-4 toe syndactyly, Clin... |
OMIM:618727 |
X-Linked Intellectual Disability, Wilson Type |
|
Abnormal position of hair whorl, Brachycephaly |
ORPHA:85290 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Wide nose, Abnormal fingernail morphology, Supernumerary nipple, Broad nasal tip, Spa... |
ORPHA:1521 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Frontal bossing, Brachydactyly, Depressed nasal bridge, Highly arched eyebrow, Broad 2nd toe, Pec... |
OMIM:280000 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Midface retrusion, Brachycephaly, Tapered finger |
ORPHA:261652 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Wide anterior fontanel, Scaphocephaly, Cranial asymmetry, Wide nasal bridge, Abno... |
OMIM:614886 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Highly arched eyebrow, Synophrys, Brachycephaly, Short nose, Midf... |
ORPHA:96147 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Clinodactyly, Wide nasal bridge |
OMIM:620316 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Pes planus, Arachnodactyly, Posteriorly rotated ears, Hyperlordosis, Hypertelorism,... |
OMIM:617011 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Short neck, Hypertelorism, Wide na... |
OMIM:614083 |
Deafness, X-Linked 7 |
|
Wide nasal bridge, Thick eyebrow |
OMIM:301018 |
Aminoacylase 1 Deficiency |
|
Wide nasal bridge |
OMIM:609924 |
Peroxisome Biogenesis Disorder 2B |
|
Frontal bossing, Anteverted nares, Wide nasal bridge, Dolichocephaly |
OMIM:202370 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumera... |
ORPHA:1071 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Prominent nose, Micrognathia, Scaphocephaly, Hirsutism, Wide nasal bridge, Oxycep... |
OMIM:618971 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Abnormality of skin pig... |
OMIM:619488 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Brachycephaly, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly... |
OMIM:135900 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Anteverted nares, Micrognathia, Synophrys, Wide nasal bridge, Thick eyebrow |
OMIM:602562 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Osteoarthritis, Abnormal form of the vertebral bodies, Pec... |
ORPHA:828 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... |
OMIM:613804 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Abnorma... |
ORPHA:2908 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pes planus, Posteriorly rotated ears, Uplifted earlobe, Tapered finger, Short neck, Long fingers,... |
OMIM:616734 |
Schimke Immunoosseous Dysplasia |
|
Depressed nasal bridge, Hypermelanotic macule, Bulbous nose, Wide nasal bridge, Fine hair, Coarse... |
OMIM:242900 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Narrow chest, Sparse hair, Syndactyly, Cloverleaf skull, Depressed nasal bridge, Rh... |
OMIM:613610 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Postnatal growth retardation, Lon... |
OMIM:616263 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Pes planus, Joint laxity, Lumbar hyperlordosis, Arachnodactyly... |
ORPHA:457359 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Branchio-Oculo-Facial Syndrome |
|
Broad nasal tip, Preaxial hand polydactyly, Wide nasal bridge, Premature graying of hair, Fingern... |
ORPHA:1297 |
Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Protrusio acetabuli, Coxa vara |
OMIM:610968 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate... |
OMIM:613805 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Protr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Protr... |
ORPHA:363958 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:619556 |
Angelman Syndrome |
|
Flat occiput, Blue irides, Brachycephaly, Fair hair, Hypopigmentation of the skin |
OMIM:105830 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Synophrys, Wide n... |
OMIM:615803 |
De Barsy Syndrome |
|
Congenital hip dislocation, Postnatal growth retardation, Pectus excavatum, Brachycephaly, Coxa v... |
ORPHA:2962 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Bulbous nose, Wide nasal bridge, ... |
OMIM:617809 |
Goldberg-Shprintzen Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Tapered finger, Bulbous nose, Synophrys, Increased... |
OMIM:609460 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Femoral bowing, Conductive hearing impairment, Simple ear, Arachnodactyly, Hyperte... |
OMIM:201750 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Hypertelorism, Spar... |
ORPHA:306542 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Highly arched eyebrow, Micrognathia, Broad nasal tip, Wide nasal bridge, Low hanging columella |
OMIM:620157 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Prominent nose, Micrognathia, Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Prominent... |
OMIM:612474 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Torticollis, Abnormal pinna morphology, Short neck, Hypertelorism, Abs... |
OMIM:611929 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Wide nasal bridge, Genu valgum, Hip dysplasia, Broad ribs, Irreg... |
OMIM:619698 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Depressed nasal bridge, Highly arched eyebrow, Craniosynostosis, Pectus excavatum... |
ORPHA:309282 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla... |
OMIM:612731 |
15Q Overgrowth Syndrome |
|
Microretrognathia, Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd fin... |
ORPHA:314585 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Alopecia, Brittle hair, Frontal bossing, Choanal atresia, Tarsal synostosis, U... |
ORPHA:2750 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Brachycephaly |
OMIM:618798 |
Radial-Renal Syndrome |
|
Absent radius, External ear malformation, Absent thumb |
OMIM:179280 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Duplication of thumb phalanx, Highly arched eyebrow, Prominent nose, Long nose, Microg... |
ORPHA:2995 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Prominent fingertip pad... |
OMIM:229850 |
Jung Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Low posterior hairline |
ORPHA:2321 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Prominent nasal bridge, Long nose,... |
OMIM:137940 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Reduced bone ... |
ORPHA:79474 |
Rauch-Steindl Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Wide n... |
OMIM:619695 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Underdeveloped nasal alae, Long nose, Sparse eyeb... |
ORPHA:1968 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Brachycephaly |
OMIM:103050 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Lo... |
ORPHA:221139 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sparse eyebro... |
OMIM:619124 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... |
OMIM:312870 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Flat occiput, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Narrow chest, Midface ... |
OMIM:235255 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Wide nasal bridge |
OMIM:619595 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long foot, Hypertelorism, Abnormal thumb morphology, Metatarsus adductus, Macrotia, Sensorineural... |
ORPHA:500095 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Deeply set eye, Conductive hearing impairment, Clinodactyly of the 5th finger, Thicken... |
OMIM:607872 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered f... |
OMIM:300998 |
Immunodeficiency 59 And Hypoglycemia |
|
Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Pectus carinatum, ... |
OMIM:233600 |
Menkes Disease |
|
Bowing of the long bones, Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent f... |
ORPHA:565 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Wide nasal bridge |
OMIM:618402 |
Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Widow's peak, Small hand, 2-3 toe syndactyly, Brachycephaly, Short foot, Midface retr... |
OMIM:619229 |
Liang-Wang Syndrome |
|
Synophrys, Wide nasal bridge |
OMIM:618729 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Anteverted nares, Rocker bottom foot, Micrognathia, Hip dislocation, Wide nasal... |
OMIM:618947 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Hypoplasia of the radius, Wide nasal bridge, Clinodactyly of the 5th finger, Lop ear |
ORPHA:140952 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Wide nasal bridge, Micrognathia |
OMIM:616367 |
Elsahy-Waters Syndrome |
|
Wide nose, Brachydactyly, Anteverted nares, Bifid nasal tip, Pectus excavatum, Bulbous nose, Syno... |
OMIM:211380 |
Distal Deletion 12Q |
|
Frontal bossing, Anteverted nares, Broad hallux, Overlapping toe, Micrognathia, Wide anterior fon... |
ORPHA:96149 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Frontal bossing, Wide nasal bridge, Micrognathia |
ORPHA:2575 |
Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Midface retrusion, Wide nasal bridge, Prominent nose |
OMIM:618205 |
Proteus Syndrome |
|
Decreased muscle mass, Central heterochromia, Abnormal finger morphology, Abnormal form of the ve... |
ORPHA:744 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Brachydactyly, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Taper... |
ORPHA:477993 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Short neck, Micrognathia, ... |
ORPHA:1587 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Wide nasal bridge, Camptodactyly |
OMIM:617333 |
Sialidosis Type 1 |
|
Frontal bossing, Short thorax, Wide nasal bridge, Pectus carinatum |
ORPHA:812 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Prominent nose, Brachycephaly, Depressed nasal bridge, Tapered finger... |
ORPHA:480880 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Anteverted nares, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:616158 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Sparse scalp hair, Wide nose, Depressed nasal bridge, Anteverted nares, Wide... |
OMIM:614609 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Brachycephaly, Nail dysplasia, Camptodactyly, Trichodysplasia |
OMIM:601701 |
Zellweger Syndrome |
|
Flat occiput, Depressed nasal bridge, Micrognathia, Brushfield spots, Wide anterior fontanel, Wid... |
ORPHA:912 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Cryptorchidism, Sensorineura... |
ORPHA:2719 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Absent inner ey... |
OMIM:229400 |
Juvenile Polyposis Of Infancy |
|
Hypertelorism, Clubbing of fingers, Midclavicular hypoplasia, Low-set ears, Broad thumb, Broad ph... |
ORPHA:79076 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Hypoplastic toenails, Bulbous nose, Wide nasal bridge, 2-3 toe syndactyly, Large ha... |
OMIM:606232 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Bulbous nose, Wide nasal bridge, Short foo... |
ORPHA:250989 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:615760 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia |
ORPHA:500055 |
Chromosome 1P35 Deletion Syndrome |
|
Micrognathia, Increased femoral anteversion, Wide nasal bridge, Hip dysplasia, Clinodactyly of th... |
OMIM:617930 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Hypoplastic fifth toenail |
OMIM:618106 |
Peroxisome Biogenesis Disorder 1B |
|
Epiphyseal stippling, Convex nasal ridge, Wide nasal bridge, Midface retrusion |
OMIM:601539 |
Rubinstein-Taybi Syndrome 1 |
|
Prominent nose, Micrognathia, Low anterior hairline, Hypoplastic iliac wing, Prominent fingertip ... |
OMIM:180849 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Anteverted nares, Wide nasal bridge, Micrognathia |
OMIM:616258 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot, Flat occiput, Micrognathia, Br... |
OMIM:214100 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, Reduced bone mineral density, Shallow orbits, Conductive hearing im... |
ORPHA:740 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Micrognathia, Wide nasal b... |
OMIM:300749 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Anteverted nares, Prominent nose, Broad nasal tip, Tapered finger, Bulbous nose, Long... |
OMIM:619950 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Coarse metaphyseal trabecularization, Alopecia, Abnormal fingernail ... |
ORPHA:1775 |
Nance-Horan Syndrome |
|
Macrotia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Pectus excavatum, Brachycephaly, Wide nas... |
ORPHA:369837 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Trigonocephaly, Short nose |
OMIM:619179 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Alopecia, Posteriorly rotated ears, Short neck, Micrognathia, Hy... |
ORPHA:96176 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Prominent nose, Tapered fing... |
DECIPHER:81 |
Developmental And Epileptic Encephalopathy 80 |
|
Tapered finger, Micrognathia, Wide nasal bridge, Talipes equinovarus, Small nail, Triphalangeal t... |
OMIM:618580 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Congenital muscular torticollis, Aplastic clavicle, Abnormalit... |
ORPHA:2538 |
Meester-Loeys Syndrome |
|
Pes planus, Arachnodactyly, Hypertelorism, Hypertrichosis, Cervical spine instability, Abnormal s... |
OMIM:300989 |
Hengel-Maroofian-Schols Syndrome |
|
Synophrys, Wide nasal bridge, Thick eyebrow |
OMIM:619641 |
Macs Syndrome |
|
Alopecia, Micrognathia, Sparse eyebrow, Pectus excavatum, Wide nasal bridge, Sparse hair, Brachyd... |
OMIM:613075 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Absent nipple, Depressed nasal bridge, Thoracolumbar kyphoscoli... |
ORPHA:1299 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Metatarsus adductus, 2-3 toe syndactyly, Brachycephaly, Pectus carinatum, P... |
OMIM:611962 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Anteverted nares, Wide nasal bridge, Highly arched eyebrow |
OMIM:608629 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly, Bulbous nose, Bifid nose, Thick eyebrow |
OMIM:608980 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Congenital hip dislocation, Hearing impairment, Micrognathia,... |
OMIM:606170 |
Alg2-Cdg |
|
Wide nasal bridge |
ORPHA:79326 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Frontal bossing, Toe syndactyly, Duplication of thumb phala... |
OMIM:200990 |
Distal Deletion 3P |
|
Anteverted nares, Micrognathia, Postaxial hand polydactyly, Brachycephaly, Clinodactyly of the 5t... |
ORPHA:1620 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recur... |
ORPHA:636 |
7Q11.23 Microduplication Syndrome |
|
Craniosynostosis, Broad nasal tip, Micrognathia, Sparse anterior scalp hair, Long fingers, Pectus... |
ORPHA:96121 |
Hennekam-Beemer Syndrome |
|
Wide nose, Generalized hyperpigmentation, Camptodactyly of finger, Micrognathia, Long nose, Wide ... |
ORPHA:2135 |
Axenfeld-Rieger Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Midface retrusion |
ORPHA:782 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Supernum... |
OMIM:618454 |
Zimmermann-Laband Syndrome 1 |
|
Hyperextensibility of the finger joints, Thick eyebrow, Thick hair, Highly arched eyebrow, Broad ... |
OMIM:135500 |
Kleefstra Syndrome |
|
Anteverted nares, Supernumerary nipple, Highly arched eyebrow, Synophrys, Brachycephaly, Talipes ... |
ORPHA:261494 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Low posterior hairline, Talipes equin... |
OMIM:619493 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Highly arched eyebrow, Proximal placement of thumb, Postnatal growth retardation... |
ORPHA:487796 |
X-Linked Intellectual Disability, Najm Type |
|
Wide nasal bridge, Micrognathia |
ORPHA:163937 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Finger syndactyly... |
OMIM:256520 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Abnormal eyebrow morphology, Frontal bossing, Depressed nasal bridge, Camptodac... |
ORPHA:1606 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Overlapping fingers, Wide nasal bridge |
OMIM:615966 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Wide nasal bridge |
OMIM:616025 |
Pontocerebellar Hypoplasia, Type 7 |
|
Broad nasal tip, Micrognathia, Synophrys, Wide nasal bridge, Pectus carinatum, Hypopigmentation o... |
OMIM:614969 |
Beemer-Ertbruggen Syndrome |
|
Bulbous nose, Wide nasal bridge, Micrognathia |
ORPHA:1237 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Absent nipple, Depressed nasal bridge, Choanal atresia, Broad hallux, Underde... |
OMIM:620186 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hip dislocation, Wide nasal bridge, Limb undergrowth, Short nose, Hirsutism |
OMIM:618005 |
Renpenning Syndrome 1 |
|
Brittle hair, Micrognathia, Pectus excavatum, Bulbous nose, Wide nasal bridge, Brachycephaly, Cli... |
OMIM:309500 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Pectus excavatum, Bulbous nose, Synophrys, Hirsutism, Wide nasal bri... |
ORPHA:488632 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Alopecia, Dry hair, Frontal bossing, Underdeveloped nasal alae, Wi... |
OMIM:311200 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... |
ORPHA:2751 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Frontal bossing, Sandal gap, Broad nasal tip, Dolichocephaly, Long finger... |
OMIM:620330 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping ... |
ORPHA:508498 |
Cog5-Cdg |
|
Camptodactyly of finger, Prominent nose, Wide nasal bridge, Genu valgum, Finger clinodactyly, Abn... |
ORPHA:263487 |
Barber-Say Syndrome |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Sparse or absent eyelashes, Breast aplasia, Hy... |
ORPHA:1231 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:617296 |
Andersen-Tawil Syndrome |
|
Micrognathia, Bulbous nose, Scaphocephaly, Small hand, Wide nasal bridge, 2-3 toe syndactyly, Sho... |
ORPHA:37553 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Depressed nasal bridge, Curly eyelashes, Prominent nose, Micrognathia, Bulbous n... |
OMIM:301022 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Abnormal pinna morphology, Down-sloping shoulders, Kyphoscolios... |
OMIM:309800 |
Treacher-Collins Syndrome |
|
Frontal bossing, Choanal atresia, Micrognathia, Absent eyelashes, Abnormal hair morphology, Low a... |
ORPHA:861 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Synophrys, Wide nasal bridg... |
ORPHA:466950 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Postnatal growth reta... |
ORPHA:83617 |
Hereditary Orotic Aciduria |
|
Abnormal toenail morphology, Wide nasal bridge, Hip dysplasia |
ORPHA:30 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Frontal bossing, Missi... |
ORPHA:2308 |
White-Sutton Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Brachycephaly, Midface retrusion, Vitiligo |
ORPHA:468678 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Short neck, Micrognathia, Talipes calcaneovalgus, Paroxysmal bursts of laughter, Tapered finger, ... |
OMIM:309580 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Micrognathia, Wide nasal bridge, Short nos... |
ORPHA:2510 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Rhabdomyosarcoma, Hypertelorism, Pectus excavatum, Spina bifida, Axillary fre... |
OMIM:162200 |
Sialuria |
|
Long hallux, Wide nasal bridge, 2-3 toe syndactyly |
ORPHA:3166 |
Faciocardiorenal Syndrome |
|
Plagiocephaly, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1973 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Abnormal location of the eyebrow, Equinus calcaneus, Widow's peak, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Premature... |
OMIM:113620 |
Miller-Dieker Lissencephaly Syndrome |
|
Frontal bossing, Anteverted nares, Micrognathia, Wide nasal bridge, Polydactyly, Camptodactyly, C... |
OMIM:247200 |
Hartsfield Syndrome |
|
Syndactyly, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Cryptorchidism, Hypotelori... |
OMIM:615465 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Inappropriate laughter, Scoliosis, Hy... |
ORPHA:98794 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Hypoplastic fifth fingernail, Wide nasal bridge, Shortening of all distal phalan... |
OMIM:614207 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Flat nasal alae, Synophrys, Absent nasal septal cartilage, Wide na... |
OMIM:610828 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-la... |
ORPHA:100 |
Stromme Syndrome |
|
Prominent nasal bridge, Micrognathia, Preaxial polydactyly, Wide nasal bridge, Short columella, S... |
OMIM:243605 |
X-Linked Intellectual Disability, Armfield Type |
|
Depressed nasal bridge, Micrognathia, Small hand, Brachycephaly, Short foot, Midface retrusion |
ORPHA:85276 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly |
ORPHA:364028 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Frontal bossing, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge |
ORPHA:438216 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Plagiocephaly, Mesomelia, Short nose, Hi... |
OMIM:613457 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Craniosynostosis, Abnormal hair morphology, Paronychia, Wide nasal bridge, Dystrophic fingernails |
ORPHA:2314 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Maternal Phenylketonuria |
|
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Wide nasal bridge, Clinodactyl... |
ORPHA:2209 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Wide nasal bridge, Generalized hypopig... |
OMIM:608233 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Posteriorly rotated ears, Hearing impairment, Hypertelorism, Long fingers, ... |
OMIM:613355 |
Cystinosis, Nephropathic |
|
Male infertility, Skeletal muscle atrophy, Hypopigmentation of hair, Retinal pigment epithelial m... |
OMIM:219800 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Micrognathia, Long fingers, Wide nasal bridge, Pectus carinatum, Enlarg... |
ORPHA:284979 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Micrognathia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Talipes equinova... |
ORPHA:314679 |
Fraser Syndrome 1 |
|
Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Aplasia/Hypoplasia of the thum... |
OMIM:219000 |
Keutel Syndrome |
|
Depressed nasal bridge, Cartilaginous ossification of nose, Short hallux, Premature fusion of pha... |
OMIM:245150 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... |
ORPHA:163746 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Bulbous nose, Wide nasal bridge, Talipes equinovarus |
OMIM:613744 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... |
ORPHA:411515 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypogonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Split hand, Blue irides, Nail pits... |
OMIM:604292 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Clinodactyly, Fragile nails, Short palm, Clinodactyly of the 5th fin... |
OMIM:613406 |
Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Tapered finger, Pectus excavatum, Sm... |
OMIM:615873 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Wide nasal bridge |
OMIM:611087 |
Rabin-Pappas Syndrome |
|
Highly arched eyebrow, Micrognathia, Broad nasal tip, Wide nasal bridge, Low hanging columella |
OMIM:620155 |
Fucosidosis |
|
Brachycephaly, Abnormality of the nail |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Wide nasal bridge |
OMIM:607906 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Trigonocephaly, Micrognathia, Pectus excavatum, Synophr... |
ORPHA:97297 |
Peters Plus Syndrome |
|
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomelia... |
ORPHA:709 |
Lymphangiectasia, Pulmonary, Congenital |
|
Pectus excavatum, Depressed nasal bridge, Mild postnatal growth retardation, Wide nasal bridge |
OMIM:265300 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Prominent nose, Micrognath... |
OMIM:619503 |
Hennekam Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Mild postnatal growth retardation, Sparse axillary hai... |
ORPHA:2136 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Flat occiput, Anteverted nares, Wide nasal bridge, Neonatal death |
OMIM:614052 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Single transverse palmar crease, Hypertelorism, Osteopetrosis, Cafe-au-... |
OMIM:618541 |
Opitz Gbbb Syndrome |
|
Frontal bossing, Abnormal nasopharynx morphology, Anteverted nares, Wide anterior fontanel, Widow... |
OMIM:300000 |
Dubowitz Syndrome |
|
Sparse scalp hair, Syndactyly, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardat... |
OMIM:223370 |
Down Syndrome |
|
Sandal gap, Brushfield spots, Hypoplastic iliac wing, Brachycephaly, Short palm, Short middle pha... |
OMIM:190685 |
Zttk Syndrome |
|
Curly hair, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Sparse eyebrow, Small hand... |
OMIM:617140 |
Fryns Syndrome |
|
Hypoplastic fingernail, Anteverted nares, Micrognathia, Wide nasal bridge, Narrow chest, Clinodac... |
ORPHA:2059 |
Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Extension of hair growth on ... |
ORPHA:2729 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th finger, Microretrognathia, Depr... |
OMIM:300855 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Abnormality of hair texture, Micrognathia, Synophrys, Abnormality of dermal mel... |
ORPHA:73223 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Feingold Syndrome 1 |
|
Anteverted nares, Micrognathia, Short thumb, Short toe, 4-5 toe syndactyly, Wide nasal bridge, 2-... |
OMIM:164280 |
Congenital Disorder Of Deglycosylation 1 |
|
Anteverted nares, Small hand, Brachycephaly, Short foot, Midface retrusion |
OMIM:615273 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Plagiocephaly, Brachycephaly, Tapered finger |
OMIM:301072 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
B4Galt1-Cdg |
|
Wide nasal bridge |
ORPHA:79332 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Arachnodactyly, Pectus excavatum, Brachycephaly, Short columella, Talipes equi... |
OMIM:601776 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Wide nasal bridge, Micrognathia |
ORPHA:85321 |
Leukocyte Adhesion Deficiency Type Ii |
|
Depressed nasal bridge, Overlapping toe, Low anterior hairline, Depressed nasal ridge, Wide nasal... |
ORPHA:99843 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Sparse pubic hair, Depressed nasal bridge, Wide nasal bridge, Highly arched eyebrow |
OMIM:110100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Plagiocephaly, Hip dysplasia |
ORPHA:453499 |
Congenital Myopathy 13 |
|
Micrognathia, Bilateral talipes equinovarus, Brachycephaly, Midface retrusion |
OMIM:255995 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous nose, Wide nasal bridge, Short palm, ... |
ORPHA:466943 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Micrognathia, Brachycephaly, Plagiocephaly,... |
OMIM:607932 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Prominent nasal bridge, Camptodactyly of finger, Abnorm... |
ORPHA:468631 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Tapered finger, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Dolichocephaly |
OMIM:619480 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Po... |
OMIM:607330 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Sandal gap, Micrognathia, Wide nasal bridge, Dolichocephaly, Midface retrusion |
OMIM:613177 |
Viss Syndrome |
|
Long toe, Sparse scalp hair, Alopecia, Frontal bossing, Depressed nasal bridge, Prominent nasal b... |
OMIM:619472 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Wide nasal bridge, Uncombable hair, Woolly hair, Cafe-au-... |
ORPHA:84064 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Micrognathia, Pectus excavatum, Brachycephaly, Plagiocephaly, Prominent float... |
ORPHA:2785 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Broad nasal tip, Supernumerary nipple, Underdeveloped nasal alae, Sagittal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Broad nasal tip, Supernumerary nipple, Underdeveloped nasal alae, Sagittal... |
ORPHA:352665 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Underdeveloped nasal alae, Micrognathia, Prominent nose, Synophrys, Wide nasal bridge |
ORPHA:90024 |
Oculoectodermal Syndrome |
|
Depressed nasal bridge, Supernumerary nipple, Hyperpigmented streaks, Wide nasal bridge, Parietal... |
OMIM:600268 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb pha... |
ORPHA:124 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Short nose |
ORPHA:2282 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Vici Syndrome |
|
Hypopigmentation of hair, Hypertelorism, Micrognathia, Albinism, Sensorineural hearing impairment... |
OMIM:242840 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Micromelia, Overlapping toe, Metatar... |
OMIM:270400 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Brachyturricephaly, Midface retrusion |
ORPHA:314621 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Bulbous nose, Wide nasal bridge, Large hands, Long eyelashes, Dolichocephal... |
ORPHA:48652 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
22Q11.2 Deletion Syndrome |
|
Turricephaly, Arachnodactyly, Prominent nasal bridge, Choanal atresia, Micrognathia, Bulbous nose... |
ORPHA:567 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bulbous nose, Hip dislocation, Wide nasal bridge, Hip dysplasia, Narrow naris, Talipes equinovaru... |
OMIM:617403 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Anteverted nares, Bulbous nose, Synophrys, Wide nasal bridge, Depressed nasal tip,... |
OMIM:619475 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Sp... |
OMIM:147920 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Brachycephaly, Thoracolumbar k... |
ORPHA:2072 |
Fraser Syndrome |
|
Finger syndactyly, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Abnormal hair pattern,... |
ORPHA:2052 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Hypoplastic toenails, Bulbous nose, Tape... |
OMIM:619522 |
Martin-Probst Syndrome |
|
Hypoplastic nipples, Wide nasal bridge, Micrognathia |
OMIM:300519 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... |
ORPHA:411511 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Wide nasal bridge, Pectus carinatum, Clinodactyly, ... |
OMIM:612541 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Wide nose, Micrognathia, Abnormal eyelash morphology, Wide n... |
ORPHA:2556 |
Kosaki Overgrowth Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:616592 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge |
OMIM:601499 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Wide nose, Anteverted nares, Abnormal eyelash ... |
ORPHA:2526 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Wide nose, Thickened ribs, Camptodactyly of finger, Recurren... |
ORPHA:217085 |
Opitz Gbbb Syndrome |
|
Anteverted nares, Craniosynostosis, Micrognathia, Widow's peak, Wide nasal bridge |
ORPHA:2745 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Wide nose, Thickened ribs, Camptodactyly of finger, Recurren... |
ORPHA:217093 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Wide nasal bridge, Micrognathia |
OMIM:601186 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Frontal bossing, Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, A... |
ORPHA:500150 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Aspartylglucosaminuria |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic frontal sinuses, Brachycephaly, Thickened c... |
OMIM:208400 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Wide nasal bridge |
ORPHA:572798 |
Shprintzen Omphalocele Syndrome |
|
Narrow chest, Short columella, Flared nostrils, Wide nasal bridge |
OMIM:182210 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Posterior rib fusion, Brachycephaly, Micrognathia |
OMIM:265380 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Wide nasal bridge, Depressed nasal tip |
OMIM:619306 |
Perlman Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:267000 |
Common Variable Immunodeficiency |
|
Brachycephaly |
ORPHA:1572 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microretrognathia, Depressed nasal bridge, Wide nasal bridge |
OMIM:619418 |
Chediak-Higashi Syndrome |
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Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Mucopolysaccharidosis Type 2 |
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Abnormality of retinal pigmentation, Wide nose, Recurrent upper respiratory tract infections, Wid... |
ORPHA:580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Anteverted nares, Highly arched eyebrow, Micrognathia, Low anterior hairline, Wide nasal bridge, ... |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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High anterior hairline, Wide nasal bridge |
OMIM:619714 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Synophrys, Depressed nasal bridge, Wide nasal bridge |
ORPHA:447997 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, P... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261537 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... |
ORPHA:79430 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Calcaneovalgus deformity, Pectus carinatum, Long hallux, Long toe, Syndactyly, Broad hallux, Arac... |
ORPHA:261552 |
Williams Syndrome |
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Hallux valgus, Abnormal fingernail morphology, Down-sloping shoulders, Micrognathia, Hypoplastic ... |
ORPHA:904 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Abnormal cartilage morphology, ... |
ORPHA:2396 |
Mowat-Wilson Syndrome |
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Supernumerary nipple, Pectus excavatum, Wide nasal bridge, Pectus carinatum, Prominent nasal tip,... |
OMIM:235730 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Anteverted nares, Wide nasal bridge |
OMIM:617641 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Thick eyebrow, Wide nasal bridge, Highly arched eyebrow |
ORPHA:572333 |
Pontocerebellar Hypoplasia Type 7 |
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Depressed nasal bridge, Wide nasal bridge, Micrognathia |
ORPHA:284339 |
Cardiac-Urogenital Syndrome |
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Wide nasal bridge, 2-3 toe syndactyly |
OMIM:618280 |
Congenital Disorder Of Glycosylation, Type Iim |
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Wide nasal bridge, Thick eyebrow |
OMIM:300896 |
Axenfeld-Rieger Syndrome, Type 1 |
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Wide nasal bridge |
OMIM:180500 |